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Semestral magazine of Genetics and Bioengineering Department

ISSUE 01/MAY 2016


Genetics for CSI Question??? A Love Story Disease treatment?
Great introduction in forensic Is Alzheimer’s in your genes? Scientist from Harvard about Problems and Prospects of
genetics on crime scene p.8 p.20 neuroscience and genetics p.16 Gene Therapy p.18


2 H i st o r y of G en etics

Genetics is more than a
“laboratory science”; unlike
some other areas of science, because
genetics has a direct impact on soci-
ety. So what is genetics? We heard a
lot of times that genetics is the scien-
tific study of heredity, but like all defi-
nitions, this leaves a lot unsaid. To be
more specific, what geneticists do is
study how traits (such as eye color and
hair color) and diseases (such as cys-
tic fibrosis and sickle cell anemia) are
»» p.8 passed from generation to generation . »» p.18

BurchGene magazine Broaden your horizons
Dear colleagues, students, respected professors, collabora-
Executive editors: tors and respected readers. It is a great pleasure and honour to
Ahmed Osmanović present to you the first ever student magazine „Burch Gene“,
Adnan Fojnica here at our department for Genetics and Bioengineering.

Editorial board: Finally, “Burch Gene” magazine saw the daylight. Our goal
Prof. Dr. Damir Marjanović was to introduce students, professors and the public to the basic
Prof. Dr. Mirsada Hukić ideas behind genetics and bioengineering. Introduce them with
Assist. Prof. Dr. Almir Badnjević definitions, concepts, applications and benefits these branches
Assist. Prof. Dr. Serkan Dogan of science provide to human kind. Also, to better understand
Assoc. Prof. Dr. Enisa Omanović science in general and to demystify some common myths we
can hear about, read in newspapers, watch on TV and similar.
Text authors:
Prof. Dr. Rifat Hadžiselimović In this very first edition, we will introduce you with his-
Prof. Dr. Damir Marjanović torical aspects and application of Mendelian and molec-
Assoc. Prof. Dr. Enisa Omanović ular genetics, biomedical engineering, forensics, nano-
Assist. Prof. Dr. Almir Badnjević technology, bioinformatics, neuroscience and many other
MS Elma Ferić-Bojić interesting topics. You will be able to read some interest-
Lejla Gurbeta ing facts about genetics and to introduce yourselves with
Adna Ašić common genetics’ diseases and ways they can be treated.
Larisa Bešić
Adnan Fojnica All the topics are written with simple style, affordable and
Dijana Sejdinović understandable for readers that are not so familiar with genet-
Anis Čilić ics from one side, in same time very comprehensive and edu-
Džana Mulaomerović cational for people that are dealing with genetics, bioengi-
Ahmed Osmanović neering and science in their everyday lives, from another side.

Lector: For realization of this project, we spent a lot of time
Sabina Halilović and gave a lot of effort, but without a doubt, our edito-
rial board and collaborators have given their maximum in
Graphical Design: order to achieve desired goal. Magazine is of course free,
Ahmed Osmanović we are stick to belief that knowledge is right not privilege.

Publisher: Using this opportunity we would like to thanks to everyone
International Burch University who have recognized our work and vision, also contributed for
publication of this very first number of „Burch Gene” magazine.
Francuske revolucije bb, Ilidža 71210 At the end, special thanks to our sponsors: International
Burch University and Verlab.
Telephone: 033 782-130
We hope you delight in reading these pieces
E-mail: The Editors

BurchGene Magazine | May 2016

G & T A.7 24 A TRIP DOWN MEMORY LANE When we are talking about molecular genetics we can surely say ideas that are currently unimaginable are soon going to become history.19 If genes don’t work properly.22 BurchGene Magazine | May 2016 . G & T are ‘’letters’’ that write ‘’book of life’’ inside each of us. However it was preceded by numerous. so they’re listed in the order they were discovered. C. It’s impossible to rank their importance. »» p. diabetes and AIDS. 8 GENETICS ON CRIME SCENE Forensic genetics is one of the rare scientific disciplines in which antiheroes had a significant impact in raising public awareness about the necessity of DNA analysis. German archeologists uncovered a 3. Hist or y of Ge ne tic s 3 CONTENTS 4 MILESTONES OF GENETICS The widespread thinking is that Gregor Mendel set basis for modern genetics.12 with a wooden prosthetic tied to its foot to serve as a big toe. 11 BIOMEDICAL ENGINEERING In 2000. 20 IS ALZHEIMER´S IN YOUR GENES? Alzheimer´s disease is a degenerative disease of brain that results in dementia or loss of memory. And each of them contains the entire human genome.000-year old mummy from Thebes »» p. smaller or larger contributions to this science. 26 9 GREATEST DISCOVERIES Here’s a look at some discoveries that have changed the world of genetics.14 solution for treating a wide range of diseases. »» p. 2 in 3 people with AD are women. »» p.16 14 SCIENCE ABOUT SMALL The ideas and concepts behind nanoscience and nanotechnology started with a talk entitled “There’s Plenty of Room at the Bottom” by physicist Richard Feynman. C. 16 A LOVE STORY Your brain is built of cells called neurons and glia – hundreds of billions of them.4 »» p. Gene therapy seems like ideal »» p. It took too long for humans to decipher these ‘’letters’’. and ability to function. 18 FROM GENES TO THERAPY »» p. 22 A.11 p. they can cause disease. including cancer.

phenomenon is well known in V Century CE . According to the earliest written ev- idence. Abu al-Qasim al-Zahrawi 3000. and nor did they fully grasp the science. theory of heredity had to explain. but life can not Hippocrates’ theory (possibly based In 1140 CE. His philos- ical) form-giving principle of an his grandfather. In the early 20th century. CE . the Afro. Homo sapiens tend to use the genetical potential of the interesting species. his father. Rei ‘(everything moves). dates. Judah HaLevi exist without death.Targeted cross and nearly all Western scholars (known as Albucasis in the West) breeding between domestic through to the late 19th century— was the first physician to describe animals. involving hered. from which some were not explained untill the distant future and modern epoch. individual species terialist view of the world: ‘’ Panta tinguished male and female tree were taken to have a fixed essence. Such areas have long been works of ingenious in- dividuals amateurs who were not considered scientists. likelihood of an animal to survive.Empedocles ity material that is collected from inheritance. have a son who does not look like earth. smaller or larger contributions to this science. Aristotle sug. and the number of males such that inherited changes were including wildlife. It is widely known that Gregor Mendel (1822-1884) set the basis (1869. the founder of the dialectical-ma- Assyrians and Babylonians dis. Early theories and interacted in the womb to direct an Hebrew . beginning with no end.” that living organisms are formed by mother’s menstrual blood. which assembling individual anatomical BurchGene Magazine | May 2016 . “This darkness. air and fire . it was preceded by numerous. as in all other areas of hu- man knowledge. However. the origin does on the teachings of Anaxagoras) described dominant and recessive not go without fail. In the 9th century CE.and culminates gested instead that the (nonphys. Interestingly. constantly changing. 1. Greeks and teristics was a supposedly well-es.. There exists a theories of heredity were that effects of the environment on the present struggle of opposites: of of Hippocrates and Aristotle. and the were not visible from the outside. 4 H i st o r y of G en etics MILESTONES OF GENETICS Rifat Hadžiselimović     DISCOVERIES AND EVENTS                                     From the origins of human cognition patterns on our planet.only manifests itself The most influential early Arab writer Al-Jahiz considered the in various forms.Heraclitus is aim of “processing”. the inheritance of acquired charac. It is a single higher yields. with the qualification “science of inheritance” . concept . mophilia in his Al-Tasrif. everywhere. by using core genetics forms.) for all fields of modern genetic research. semen (which he considered to be found within his father. throughout the body. the Arab physi- both Hippocrates and Aristotle— cian. is were minimized in order to achieve merely superficial. on pangenesis. For In 1000 CE. members of the human race tend to evolve to surpass their predecessors. Matter. Without a doubt. which originate from the deepest layers of civilization.. light without was similar to Darwin’s later ideas genetic traits in The Kuzari. ophy is the forerunner of the sci- organism was transmitted through inheritance and likeness were entific process. clearly the hereditary nature of hae- The Egyptians.Judah ibn Tibbon. living occurs life. because very often we suggested the four elements: water. At the same time. though they Empedocles hypothesis sugests a purified form of blood). the science that he was involved with is referred to as Mendelism. and instead looks like ancient materialism. Romans crossed horses with the tablished fact that any adequate VI century CE. applications organism’s early development. .

Erasmus Darwin. During this long period. they have “normal distribution”.Rudolph Camerarius. Hybrids displayed Figure 1 Albucasis and two pages from his original crowning achievement. . writers related the characteristics nal ancient ideas in Western Europe George Leclerc Buffon was of a child as four factors: drew only on the threshold of the a French naturalist -evolution- (1) those from the mother’s 13th century. air and fire plant reproductive organs. Due to the accumulation of increased knowledge of plant and recorded biological data. Vesalius. ancient Indian medical sion). in different is a product of time. Descartes and 3. As far as is known. In terms of biology. who insisted on the empirical reproductive material. experimenting with high and dwarf plants and animals to man. Abu Ibn Sina (Avicenna).Nehemiah Crew. Harvey and Leeuwenhoek domi. this was the first recorded production of artificial hybrids. his traits of both parents. minds of the time. In thought that acquired characteris- Europe is rooted the original sci. ie. natural sciences in the 16th century ics and practical hybridization. four parts creating sixteen factors Latin name Carolus Linnaeus) which indicates the modern views of which the karma of the parents made the first taxonomic sys- on the selection and genetic struc. described sexual reproduction in plants. grandfather pregnant mother and icine certain figures particularly of Charles Darwin also recorded (4) those accompanying the stood out: Al-Kindi. Gaber. in the Netherlands). these parts are Each of these four factors had Linnaeus (published under the held in a harmonious whole form. Line described biological diversity. Aristotle and other figures hybrids of the first generation are about 10 centuries of absence spilled over works that were “sea. ist. which prompted an experimental approach to hybridization. In the 18th century. in med. in a conspicuous development line. onomy. whose basis contributed immensly to ancient and criteria are not significantly science. thanks to the expan. Al Rhases. he noted that III century CE . Among the many ing and that the biological diversity sperm. sion of Arab culture. earth. Galileo.Thomas Fairchild. von Gärtner. there is a animal diversity and the accom- need for their systematization and panying increased focus on tax- organization. entific ideas. and Charles Naudin) BurchGene Magazine | May 2016 . Carl Friedrich water. in general and even biology. Al similar conclusions and. XVIII and XIX other scholars had most of the century credit. German professor of medicine. . and the soul determined which attri. tematization of living beings (in ture of populations.Swede Carl in nature. the Roman varieties of tobacco. with nated.Aristotle gave the child its characteristics. intermediate. Hist or y of Ge ne tic s 5 1694th . new ideas about hered- 1682nd . ity began to appear. parts that are independently formed soul which enters into the fetus. 1735-38. ie. Empire. Transitional epoch changed untill now. the fact that the sexual organs of many plants living beings are heterogeneous Since ancient times. in which Copernicus. as Buffon. butes predominated and thereby epochal work Systema Naturae. (3) those from the diet of the fields of natural sciences. He visualized the immense 2. English explorer announced results of successful pollination between related plants. was a 30 volume encyclopedia of medicine and surgery called Kitab known as Fairchild’s sweet William al-Tasrif or Fairchaild’s mule.Joseph Kölreuter is The entire material world is clas.In Europe. the first and experimentally produced their and that they are graded complexes ideas on the development of living hybrids. Newton. parents and that there is no differ- 300CE. After that. that it is much belief that living species are chang- (2) those from the father’s earlier assumed. Linnaeus English plant anatomist. It so happened that the origi. which are magnum opus. under and others (among them Joseph Figure 2 Empedocles’s four world: went the first consistent study of Gottlieb Kölreuter. tors (these interpretations where they are often more exuberant than In the Charaka Samhita of mostly stolen or had serious omis. 1717th . By plexity: from minerals through has been recorded (for biology). tics are transmitted to the offspring. and that in another traced the development of science soned” interpretations of transla. nature and biological inheritance to In 1760. IV century CE . ence in reciprocal crosses. the great discoveries in the field of the founder of quantitative genet- sified as a hierarchical set of com.

unques. ie.Oscar Hertwig discov. – Friedrich Leopold links between Mendel’s “units back-crosses. of agricultural plants in England. He 1859 . Classical genetics Species hybridizers described a color) + soma (= body).Charles Darwin pub. ments with hybridization. recombination of paren- 1876 .William Bateson intro- the 18th century.German Jew. 1902 . created the term genetics. The sex chromo- any of the offspring. Hugo de Vries) marked the begin. a Danish botanist intro- the book ‘Zoological Philosophy’. 6 H i st o r y of G en etics conducted extensive experi. one parent. because wide variety of inheritance phe. which are “unchanged”. lished “Origin of Species by plasma. of development and even biolog.Hugo von Mohl. ered meiosis. Means of Natural Selection ‘’ (‘’ 1900 . ical sciences. differentiated lighed i samfund og i rene linier“ in plants. biotechnology and tal chromosomes during meiosis. and it is also the first loca- lished ‘’ The research on plant ferentiation of genetic research. espe. and is not the title „Elemente der exakten as mitosis. This system ity of the body. biologist discovers colored bodies. somes were found in the works of is also confirmed by the farmers mation can not pass some of the the butterflies and other insects. not com. German zoologist Otto somatoplazma (“catfish”) and and the book „Arvelighedslærens Bütschl was one of the first germ-plasma (“” germ “) existed. gene for eye color is on the X chro- 1865 . at the level of chromosomes (Belgian zoologist Edouard Van Beneden. and genetics. which characterize the modern era mosome. ning of rapid development and dif. Morgan reveals crossing HYBRID ‘’). the germplasm and translated into German under the discovery process today known is a basic unit of heredity. In 1809.Jean-Baptiste a biologist. modern theory of organic inher. established the “theory of germ 1910. a Danish botanist. noticing are transmitted in a series of gen. of evolution. She described this phenomena again in 1883.Wilhelm Ludwig that such properties.US and German cytol- nomena. has developed one They conclude that hereditary Lamarck. Although some his chromosomes. BurchGene Magazine | May 2016 . – 1920. 1909 . of heredity” and chromosomes. while studying the fruit fly Drosophila. a In the early years of the 19th plicate somatic cells but germ. He also found that some produce somatic cells from somatic term gene. 1905 . August Weismann . mosome.Rediscovery of 1910th . tion of a gene on a particular chro- hybrids ‘’ (‘’ Versuch über Pflanzen. described only in 1890. at the beginning of views were later rejected. ogists independently observed the ity and the high variability of 1893.German ties. received specific colors. include hybrid steril. in eggs of Ascaris worms of the genus). He discovered that the life ‘’).Wilhelm Ludwig tance of acquired characteristics in known as neo-Darwinism (‘’Über Johannsen. according to genotype parental features do not appear in cells “learn” the appropriate capac. they are visible as stains when cells 1902 . Erich von Tschermak and Drosophila. and named them cially hybrids within species. proposes the offspring. which was expanded researchers who may have found According to him. regularly occur in the one direction: calling (germ) cells according to some. medicine. The effect of running in Johannsen.Gregor Mendel pub. British biologist and evolutionist century Augustin Sager established plasma.William Bateson. and the term is defined affected by environmental factors.Thomas Hunt Morgan The Origin of Species by means Mendel’s work and affirmation first discovered sex-linked prop- of natural selection or preservation of the meaning of its results (Carl erties while studying the fruit fly of favored races in the struggle for Correns. “inheritance factor”. chromosomes. die Vererbung’’). who noted that two cell division necessary to transform one diploid cell into four haploid cells if the number of chromosomes should be maintained. Elementer“. He assumed duces the concepts: genotype and 1835th . over. He discovered a theory of inheri. phenotype in the work „Om arve- German botanist discovers mitosis onic development. a that in every cell in early embry. Hereditary infor. after the Greek prefix chroma (= 4. a French biologist. of the first theories of biological information is contained in the creator of the first complete theory inheritance. Reproduction of animals. relationship of dominance. The significance of meiosis for reproduction and inher- itance. itance and evolutionary route 1905 . Figure 3 Thomas Hunt Morgan was first discovered sex-linked (sex-linked) proper- 1882 Walter Fleming . germ and the next generation. has also attributed tionably was the originator of the duces the name gene for Mendel’s great importance to biodiversity. if it has at least erations. by Walther Flemming (1882). however. Erblichkeitslehre“. German biologist August Weismann. .

sequence for a multicellular tled “The Problem of Genetic sists of triplets.Swede Nilsson-Ehle phage known as the indication of establishes the basis and nature Figure 4 Genes carry the codes for the X174 (which contains 5375 nucle- of inheritance of quantitative protein synthesis otides). which causes cystic of a phenomenon and related nucleic acids. . amino acids. quantitative relationship between 1958: The Meselson–Stahl Arabidopsis thaliana and fruit fly.. A. discovers a hereditary molecule can come in the RNA molecule. equal to that of thymine. He discovered and struc. McCarty experiment isolates DNA mental factors.Ronald A. all other organisms) UK in 1996. which each consist eukaryote.The genetic code con. coli bacterio- 1911. T). Independently of this characteristics. ie. only. inheritance. and proved rules appear to hold(e.Maxi-Gilbert effect on certain genes. human genome sequence. tomato. Francis (Morgan student) announces the 1950: Erwin Chargaff shows Collins and Lap-Chi-Cui (Lap- first gene (genetic) folder chro. International Congress of Genetics which encodes one amino acid 2001: First draft sequences of (Berlin). their genetics can not explain the bacteria. That the phenotypic variation for protein synthesis. ical degradation (chemical deg- with cumulative effects and their radation method . by tomato puree goes on sale in the family based on Mendelovskog implication. Alfred Sturtevant. is DNA. Caenorhabditis elegans. . released. 1956: Joe Hin Tjio. Haemophilus influenzae.g. experiment demonstrates that DNA Drosophila melanogaster. 1998: The first genome media sensation after a paper enti. which he has a long shelf 1918th . . He assumes 5.Hermann Joseph RNA viruses demonstrates that 2003 (14 April): Successful Muller defines: Physical changes Watson’s central dogma does not completion of Human Genome in genes are called mutations.. that the In 1994. This is the first GM product lished a paper entitled “Correlation experiment reveals that the genetic sales in the United States. called transforming principle). 1961.Established the first 1913th .Howard M.). genes to a gene map. within the same genotype is sig. Molecular genetics method). (2000.Frederick Sanger’s observations of mutant fruit flies method determined the DNA bjelooke. gene encoding ‘’ CFTR mosomes. She appeared significant some number in humans to be 46. and George Wells Beadle con. and not only DNA. Hist or y of Ge ne tic s 7 Researchers Thomas Hunt Morgan. which enables simple Johansen defines modifications.99% accuracy. Muller real. that the four nucleotides are not Chi Cui). eukaryote genome sequence to be CESO. Genomics nificantly influenced by environ.encoding the same simultaneously by the Human was later referred to as chromo. as the genetic material (at that time 1989 . 1944: The Avery–MacLeod– 6. . while 1996: Saccharomyces cerevi- ized two experiments with differ. firmed that genes carry the codes amplification of the DNA molecule. by the same principle. GM between members of the same information of phages (and. siae . In 1927. working in Albert Levan’s lab. however certain fibrosis.He showed up linear arrangement of genes on amount of adenine. is the first ent doses of X-rays were used by established the correct chromo. a yeast species. BurchGene Magazine | May 2016 . He noticed that that is transferred from bacteria to experiment. . and after that of plant.Frederick Griffith that the viral genetic information sequenced to a 99. take into consideration the fact Project with 99% of the genome In 1928.Hermann Joseph 1953: DNA structure is rium Haemophilus influenzae is the Muller reveals. Genome Project and Celera somal inversions. and in 1927 pub. He took advantage present in stable proprotions in ‘’ protein. . Temin Genomics. based on In 1977. that there a larger number of genes In 1983.‘’ Crossing over ‘’ is developed their methods of chem- the hypothesis of multiple alleles the result of recombination. 1995: The genome of bacte- In 1926. Modification ‘’ sent to the Fifth of three units (“letter”). In 1919. inheritance ‘’. Walter Gilbert and Alan Maxam current Mendelian rules and raises In 1931. Calvin Bridges 1970: Restriction enzymes and the other on vstama Drosophila were discovered in studies of bac- genetics explain sex and sex-linked terium. Thomas Hunt Morgan enabling scientists to cut and paste suggested that genes are contained DNA in the chromosomes. tion (PCR). Muller’s discovery caused a huge is semiconservatively replicated. ism to be sequenced of X-rays. each of is released. In 1964.Kary Mullis dis- whose expression is significantly 1941 . Fisher pub. More codes can have the the human genome are released tural chromosomal mutation that same meaning . . radiation and deadly mutation. 1952: The Hershey–Chase life. tends to be FlavrSavr genetically modified chromosome. resolved to be a double helix by first genome of a free living organ- lished data on mutagenic effects James Watson and Francis Crick.Alfred Sturtevant.Edward Lawrie Tatum covers polymerase chain reac- affected by environmental factors. sequence of the E. . .

of the genetic markers. Before DNA analysis. 2005a). in successive series. under its working title as forensic twenty years. as well as ular genetics). such as HLA (human leu- kocyte antigen) analysis or ABO blood groups analysis were widely used. should not be neglected. In the last existence of the DNA sequences.. he con. at least on the level of olutionary discovery of the molec. biostatistics. By improving covered in that period. He described the discipline which is still described sic science as a whole. i. of analysis. biotechnology. It is important to emphasize that forensic genet- ics. DNA analysis has an ago in the papers of English geneti. Also. depending on the method very high level of applicability of ematics. technology. firmed that the number of those some of the fundamental findings tion. etc. genetics forensic DNA testing. biochemistry. based on the variations scientific fields. the newest findings. this method was the BurchGene Magazine | May 2016 . as it was thought Figure 1 Connection of the forensic genetics with the other at that time. One of the most com. which repeat its application. (especially population and molec- as DNA fingerprinting or DNA That massiveness. ble to its recent scope. Forensic genetics is the sci- entific area of genetics which is concerned with the application of the genetic findings in court. medicine. 8 H i st o r y of G en etics GENETICS ON CRIME SCENE Damir Marjanović. analysis of these repetitive DNA the complex interaction of a huge monly used methods of the analy. especially for the purpose of paternity testing. it has been promoted into the repetitive units can vary among that still represent the base of the mostly mentioned and used organic the individuals in the examined modern forensic genetics were dis- substance in a wide range of sci. sequences. which consid. led to the Today.e. tial carrier of hereditary informa. cally promoted in forensics 20 years lates of DNA analysis. However. legal procedures. (Figure DNA typing has been scientifi. population sample. ethics. development of the new scientific irreplaceable role in the foren- cist Alec Jeffreys. date from before the first official use of foren- sic DNA analysis in 1985. is hardly compara- ular structure of DNA as an essen. entific disciplines (Marjanović et the methods of length variations Forensic genetics is based on al. Moreover. erably overcame the initial postu. such as sis of individual regions of DNA is sibility to conduct massive human biology. different genetic systems. located on the specific positions in that time. pater- nity testing which was done using comparative analysis of those phenotypic characteristics whose expression was. law. also known DNA testing. its foundations. 1). Jeffreys created the pos. Larisa Bešić     FORENSIC GENETICS                                     genetics. number of scientific fields. Adna Ašić. The science from Half of the century after the rev. math- typing. the human genome.

After the assas- victims identification. and also showing that procedure and its improvement tunity to bury their loved ones in there are small variations in hered. during the 1980s (Mullis and col- dignity. With the discovery of by the events and changes within DNA markers for the first time this technology. Wyman and White described the ysis. Simpson Case and Bill Clinton Case. and used them and proving the parenthood. and not to mention a single chapter like this. Coenberg dis. itary material which differ from leagues. however. of human remains were given phism) by describing the possi. found the murderer (Wambaugh. Alec Jeffreys (Figure 2) forensic cases worldwide. would not be enough to consider all the relevant facts. This discovery was crucial in important role in the Balkans mos. they were completely for- gotten until 1900. defined polymerase chain reaction and b) Sir Alec Jeffreys who performed the first dation and universality of Mendel’s official DNA analysis whose results were verified in the court trial in 1980s. both in merase in his papers (in 1958). The foun. person to person. Soon after that. sination of two girls. J. later. Crick in 1953 opened new hori. when the other scientists (De Vries. both in clinical and forensic ics is not exclusively conditioned existence of short. Forensic genetics is one of the rare scientific disciplines in which even antiheroes had a significant impact through raising public awareness about the necessity of DNA analysis and the need for the investment in this promising tool. Botstein and and Dawn Ashworht. but.1995) and in its closest neigh. of more than 5000 men and finally “molecular weapon”. PCR (polymerase chain reaction) lies were at least given the oppor. Therefore. Figure 2-a) significantly The development of the scien. winners James Watson and Francis to person in 1984. used DNA analysis. highly variable medicine. Finally. in the court for the first time a year This method played a very zons in the molecular microcos. as well as everything that. showed that specific regions of are several main areas of DNA Final demystification of the DNA (VNTR – variable number of analysis application in forensic molecular structure of DNA which tandem repeats) contain repetitive medicine: investigation of criminal was first shown by the Nobel Prize sequences which differ from person activities. identification of persons. It is necessary to consider all the events that hap- pened prior to its establishment. The whole book. Correns. proved Mendel’s laws in his decades was set by two scientists who were not forensic experts. 1986. As it is well known. any forensics text „worth reading“ should not avoid the following three cases: Colin Pitchfork Case. thousands tion fragment length polymor. That will help you to recognize how exact application helped in the shaping of the forensic genetics as one of the most applied scientific branch within 21st century. Lynda Mann Bosnia and Herzegovina (1992 Twenty years later. a) Kary Mullis who experiments on animals. However. Applying this powerful tions of the RFLP method (restric. We are strongly recommending you to read something about those stories. nucleases. Mendel formulated the basic principles of the inheritance. a) b) William Bateson (founder of the terms “gene” and “genetics”) in Figure 2 The basis for the “dramatic” expansion of forensic genetics in the last three 1906. in 1983 and . after influenced the future of DNA anal- tific field such as forensic genet. BurchGene Magazine | May 2016 . There forensic genetics. main tool that clarified numerous principles are widely used in the in 1980. it became possible its field of interest. bility of using restriction endo. Even though his first results were published in 1865. solving the first forensic case that thought the projects of the war covered and described DNA poly. his coworkers laid the founda. Hist or y of Ge ne tic s 9 Almost every scientific discipline has its own heroes who substantially influenced its further development. originating from the other scientific fields. O. had either direct or indirect influence on the streams within the forensic genetics itself. 1989). few of them are worth to be pointed out in this short review. the discovery of their names back and their fami. police organized the testing borhood. and Von Tschermak) confirmed them.

However. the same ical and HLA tests. the most commonly used enzyme were aware of the blood group ally long procedure. This analysis ing of the processing time became molecular bases of this testing were was considerably improved with necessary in the laboratories in the application of so-called HLA the two additional steps. dis. and their simulta. so-called RFLP analysis. in turn. has begun. the person who left certain biolog- cially during the testing of infants closure of the famous PCR princi. and Duffy blood this method is the ability to get the one reaction). ical trace based on the analysis of in the first year of life. its appli. usually Modification of the existing STR HLA typing. fast progress in the development sible to analyze extremely small the application of this method has of basic biotechnological methods amounts of highly degraded DNA some serious limitations because which enabled the forensic DNA which is often found in biolog- the analysis requires processing analysis to cross the path from an ical traces. which. of interest from very small biolog. the use of mitochondrial DNA and in disputed parentage testing. every month new product is offered hereditary traits. and in combination highly degraded. duction Taq polymerase and STR ing the samples for the DNA data- There are many HLA types which (short tandem repeats) molecular bases. of new markers. markers. in the early 1990s. first PCR thermocycler was con. ing was described for the first time. like SNPs (single cally controlled” primarily by the cation of this method shifted the nucleotide polymorphisms). i. genetic markers and the creation with serological tests. age testing and in forensic DNA 2012. interesting and it will be discussed puted parentage testing and deter. lyzer – model 370A – on the the field of forensic DNA analysis. This method enabled the probabil. the SNP markers) turned out to be very Finally. on the market to significantly sim- ecule. cation was still extremely limited was officially produced. molecular period. which will be further dis. which made based on the classical vertical poly- them ideal for the determination of acrylamide gel electrophoresis in BurchGene Magazine | May 2016 . to the everyday routine procedure basic phenotypic characteristics of resents a serious problem. which will com- cule are significantly more variable pletely repress genetic analyzers than HLA complex. It was shown company presented the first cap- that the fragments of DNA mole. In ics is truly dynamic and almost processing the primary carrier of that same year. Six years later. and simultaneous electrophore- increased up to 40%. intro.e. using enables extremely fast processing genetic testing were widened from successive and targeted copying of numerous samples. con.e. cantly better than previous serolog. century. The development of forensic genet- cal traces in forensic analyses by ing the phases of PCR method. at the beginning of 1986. which is still forensic genetics itself. automatic sequenc. With the dis. The shorten- blood typing to tissue typing. multiple STR loci (at the end of uals for a long time. Finally. which genetic complex located on the power of exclusion in the testing of are expected to enable the progress sixth chromosome. In this inheritance system and the possi. 10 H i st o r y of G en etics to analyze the biological specimens biological relations between indi. in the middle 1980s. was recorded. that number increased to the covery of new serological tests analysis. market. Method used and company Applied Biosystems plify already existing procedures or then. the following 15 years. cussed later on. The main advantage of simultaneous analysis of 18 loci in for Rh. disputed parentage to the minimum of chip biotechnology and increase they turned out to be a good tool of 99.999% and enabled the anal. ized by the presence of extremely sis of multiple samples. STR loci was introduced for the These fundamental discoveries in ity of tested parentage to cross the first time. as well as biological traces. up to 80% with the application of ence of minute amounts of. traces character. that power In the end. illary system. Due to that. Also. lary genetic analyzers for simple the power of exclusion has been ical traces. conditions necessary for perform. as well as fast-PCR group systems. in only 20 years. large blood samples that cannot exclusive and complex procedure phenotypization (prediction of the be older than few days. which rep. espe. Two years later. Kell. sex chromosomes. as well as ditioned the development of the on the analysis of large biological TaqGold polymerase. In 1993. the analysis of already mentioned DNA. to give completely new solutions in was giving the results signifi. ABI 310 capillary genetic analyzer application. The ysis of extremely small biological molecular markers related to the power of exclusion was increased traces characterized by the pres. In the last few years. application in the disputed parent. However. The of DNA molecules. billions of copies of the fragment thermocyclers and multi capil- neous application with ABO test.. which contain minute amounts of viduals. Scientists traces and was using an exception. Also. genetics techniques based on the systems were developed. i. at the beginning of this expressed a high level of individ. the limits of the small amounts of DNA. there is a significant and of miniSTR concepts made it pos- reached almost 90%. ple. DNA. It was simulating all the in one of the following chapters. the expansion in the use ual variation which is “geneti. structed. which mination of biological (genetic) application of PCR found its wide enable simultaneous analysis of relations between human individ. the first multiplex STR bility of its application in the deter. the first genetics dictated the trend of their limit of 99%. the appli. which In the early 1970s. DNA mol. in forensic DNA analysis.. introduced the first genetic ana. mination of the origin of biologi. Soon after the dis. whose primary task was process- (Human leukocyte antigen ) typing.

In 1816. computerised tomog- systems. antibiotic production tech- kinds of high technology devices medical physics. Egyptians able and renewable energy sources. is of diagnostic and therapeutic sophisticated technology in every the application of engineering prin. sumption. try (silicon transistor) while later it for his invention that led to today’s lation. artificial kidney from the including the hospital information early days. biomedi- ized personnel. Miniaturisation of patients throught introducing Engineering. also used hollow reeds to look and one of the most rapidly growing listen to the internal goings on of the branches of industry in the devel. medicine and health care started developing at its own pace. imaging devices and methods.tened through it. covering a wide range of ciples and methods in solving prob. ubiquitous stethoscope. Biomedical suggests that it could be the oldest engineering is. devices.known limb icine and health care.human anatomy. from X-ray and other medical institutions have engineering. Hospitals engineering is a unique mix of branches of medicine. from simple bandages to lems in the fields of biology. med. In its broadest sense. Growing technologi. engi. where wooden prosthetic tied to its foot engineers contribute to the to serve as a big toe. treatment and rehabilitation bearing in mind that Biomedical ities or injuries. modesty oped world. Within the In this article. enforces the support of technologically special. beside the sustain. The development of prevented French physician Rene Figure 1 Biomedical engineering is a biomedical engineering and its Laennec from placing his ear next young field of engineering and science affirmation has mainly appeared to a young woman’s bare chest. Biomedical their applications in practically all equipment and prothesis. ance of microprocessor enabled the most sophisticated life . first as a result he rolled up a newspaper and lis- world of development in electronic indus. portability and appear- products. nology. medicine and science imaging devices. triggering the idea In respect with growing popu. Researchers advancement of knowledge equally said the wear on the bottom surface as medical professions. German arche- ologists uncovered a 3. cardiac pace- a commitment to take care of all emerged alongside biophysics and maker. trained into solving cal engineering has been with us for problems in medicine and health centuries. their lower power con- day use. Hist or y of Ge ne tic s 11 BIOMEDICAL ENGINEERING Almir Badnjević. cal participation in health services up to genomic sequencing & BurchGene Magazine | May 2016 . perhaps even thousands – bioengineers. or Bioengineering. Lejla Gurbeta     HISTORY AND PERSPECTIVES                                    and comitment in improvement Biomedical Engineering – past of quality of life. so and is yet to be seen how it will affect the in the last 50 years. networks and their safety raphy and magnetic resonance and security. have changed dramatically in the past few decades. disease preven. humans modern health care system. of years.000-year- Interdisciplinary is a bedrock of old mummy from Thebes with a biomedical engineering. rehabil- health protection. Biomedical Engineering is given have made increasingly more effec- neering involvement is needed in with respect to present state in tive devices to diagnose and treat overcoming challenges in human Bosnia and Herzegovina and future diseases and to alleviate. research in this area in the world itate or compensate for disabil- tion. history overview of Throughout history. In 2000.

this is become more demanding due to Today. the first job in the USA for impact. Their estab- lishment was aided by Sam Talbot Figure 2 Intediscipllinary is bedrock of Biomedical Engineering of Johns Hopkins University. the ear- liest academic programs began to take shape in the 1950s. is becoming of strategic interest from the inside of the body. In Europe. biomechanics. 12 H i st o r y of G en etics micro-arrays. especially among the nanoma- became generators of the economy. fusion of directed to finding optimal solu. Those measurement or monitoring of for each and every effort to ensure numbers are growing very fast and physiological and biomechanical health and well-being of the pop. The sedentary or only lightly active. one can expect that research will engineering knowledge is neces- Research and development in the concentrate and bring to the market sary. such as bioinstru- mentation. these new and ible materials for neural prosthe- increased needs of the population For research in biomedi. in the USA. is a key sector for European com. clini- cal engineering and rehabilitation engineering. These three institutions. neural tially due to change of lifestyle to growth and future prospects. The profession “bio. there is to Europe and other developed an increase of chronic non-com. electronic device and these devices group discussion of approaches to grams with content in biomedical will have to learn how to commu- teaching biomedical engineering. cal engineering. As medical practice becomes more technologically based. biomedical engineers neering where tissue will be grown and the University of Rochester. complexity of all the data acquired. In and for better diagnosis. placed into the body into the right Drexel University. billion-market size.restored.g. ing from the National Institutes of petitiveness. improve the current results. there are more with more than one implantable of Health for funding to support a than 300 universities having pro. systems physiology. The next step will The Johns Hopkins University. medical technol. medical the future. so different specialty areas within the field of biomedical engineering were established. This equates to 575. there is no limit terials and nanotechnology. At the same time. It presents a €100 Health. For instance.sis. but especially in Europe. However. the CNN There are two major fields municable diseases partially due to reported in 2014 that BME was of intensive research which will aging of the population and par. a progressive shift occured in industry to meet the demand.increased number of sensors for ogy is essential and unavoidable tions – 10. data 20. who petitioned the National Institutes In Europe. bad need for neural interfaces fosters nutrition habits and increased level Biomedical Engineering – future development of new biocompat- of stress. and then the function of the first to win important training Biomedical engineering the newly implanted tissue will be grants for biomedical engineer.000 jobs ing in medical applications will and in terms of innovation. from biological material .000 companies work in this transfer and information process- Biomedical Engineering – present sector. countries. implantable electronic devices. the average for all occupations”. from the surface and/or ulation. there will be patients experts still need better resolution BurchGene Magazine | May 2016 . As for education. the Biomedical Engineering sector quantities. are considered to work in an inter. because humans are demand.cells. “employ. For better understanding of field of medical technology in devices for restoring the functions the data in neuroscience. of tissue. along with disciplinary area. positron emis- sion tomography and image-guided surgery from the last decades. were among position. Everywhere in the world. by more sophisticated imaging modalities is necessary tions for social priorities.412 – in 2012. interfaces and neuroscience. nicate and adjust their performance Ultimately three universities were medical engineer” is a registered in order not to cause any harm due represented in these discussions: profession in many countries and in to joint action. those where it is not an registered probably be functional tissue engi- the University of Pennsylvania professions. the first sector in patent applica. scientists are research- ment of biomedical engineers is ing and would like to extend the ing how the brain works and for projected to grow 27 percent from quality of life and the life itself for processing and understanding the 2012 to 2022. much faster than many years. bioma- terials.roscience. engineering. In neu- so that e. In the next decades.

mechanical engineer. It will working in research and develop- in the field of medical. ing conference with aim of sharing As for Bosnia and ing. 2017). neering”. Biological Engineering in Bosnia of the society and enthusiasms of This society brings together a large and Herzegovina (CMBEBIH young generations of students. tific curricula exist mostly on facul- ment necessary for the demanding 1st Conference of Medical and ties for electrical engineering and/ research. The main goal of and latest researches in biomed. area. biological. like electrical or mechanical engi- Biological Engineering Society 2nd Conference of Medical and neering. be exciting. Bosnia and and Herzegovina Medical and the traditional engineering fields. The good news how research and academic pro- ment of Biomedical Engineering is that all accepted papers will be grammes will develop in future. Don’t miss #cmbebih2017! BurchGene Magazine | May 2016 . a young field of engineering and still in the first stage of devel. by Springer Nature. Selected stantly and rapidly changing. electrical. 2015 with formal education is yet to develop. the number of university professors. and there is a constant need for and supporting researches in this As for education. ical engineering. 2017. experiences. Biomedical engineering is Herzegovina is very young and zons through biomedical engi. engineers and technicians 16th to 18th March. different scien- increasing the resources and equip. Herzegovina Medical and Biological Engineering Society. pharmacy and other related ideas. will be held in Sarajevo from number of biomedical engineers doctors. in Bosnia and Herzegovina by published in IFMBE Proceedings medical engineering world is con. helping the government in deter. Engineering in Bosnia and goal to “Expand your (own) hori. In 2014. However. Bosnia science and it is small compared to opment. the mining the strategic direction papers will be published at CC/SCI knowledge is rapidly increasing related to Biomedical Engineering Indexed Springer Journal. due to the needs (DMBIUBIH) was established. Hist or y of Ge ne tic s 13 Environment in the bio. informative and inspir. best practices Herzegovina. was held in Sarajevo from there are evidences that this field of Field of Biomedical 13th to 15th March. Biological Engineering in Bosnia or informational technologies on Biomedical Engineering in and Herzegovina (CMBEBIH public and private universites. ment is rapidly growing. but Bosnia and Herzegovina 2015). Engineering it is yet to be seen this society is to support develop. Biomedical science fields. The organizers.

talk. Richard Feynman at an Amer- father of nanotechnology. of Technology (CalTech) on study and application of extreme. the gies are so promising in materials. Over neering at nanoscale (1-100 nm). of killing viruses upon contact. It is the the properties of matter change.. It wasn’t until from the properties the materi. like a tennis ball. 1959. Why „nano“ is so special? started with a talk entitled There are various reasons why “There’s Plenty of Room nanoscience and nanotechnolo. at the nanometre scale. mechanical. machining. change when the nanoscale level of the scanning tunneling is reached: the same metal can microscope that could “see” What is a nanomaterial? become a semiconductor or an individual atoms. electri. and nanoma. a metal) when in a and control individual atoms neering. al is in a bulk form. biology. ogy was acctually used. It was a long nanotechnology is that it conducts erties which are very different before the term nanotechnol- science. at the Bottom” by physicist Figure 1 Physicist Richard Feynman. ican Physical Society meet- Nanotechnology is „the es. tivity. phys.g. strength and weight 1981. Figure 2. colour. On of the definition of nano-sized form can assume prop. engineering and related scienc. silver nanoparticles are capable nanotechnology in his ex- ties (optical. Nanomaterials are categorised according to their HOW IT STARTED? dimensions as shown in Table 1. hind nano- als.) which are very different Properties like electrical conduc. with the development al has at the macro scale (bulk). Feynman described a across all the other science fields. ing at the California Institute science about small“.14 H i st o r y of G en etics SCIENCE ABOUT SMALL Enisa Omanović Mikličanin    NANOTECHNOLOGY                          nanometre scale. from those when the same materi. effects. material (e. plorations of ultraprecision cal etc. ern nanotechnology began. Nanomaterials are larger than sin. and engi. technology and engi. visualise the cepts be- relationships between bulk materi. science and nanotechnology terials. physically explained as quantum process in which scientists such as chemistry. and molecules. materials science. In his ly small things which can be used the small size of nanomaterials. that mod- A nanomaterial is an object that insulator at the nanoscale level. For instance. First. whereas rio Taniguchi coined the term the nanoscale can have proper.. a decade later Professor No- The same material (e. has at least one dimension in the The second exceptional property BurchGene Magazine | May 2016 .g. This is a direct consequence of December 29. The ideas gle atoms but smaller then bacteria and con- and cells. The consequence is that a would be able to manipulate ics. gold) at bulk silver is non-toxic.

Finally. specially in cancer treatment have brought a new inter- disciplinary research field – nanomedicine. such as catalysis and detection.. Nanotechnology has broad applications in medicine. food etc. THANKS TO OUR GOLD SPONSOR BurchGene Magazine | May 2016 . nanomate- rials have an increased sur- face-to-volume ratio com- pared to bulk materials. cosmetics (e. The information for this fabrication process is embedded in the material building blocks so that these can self-assemble in the final product. This has important consequences Figure 2 From a macro-materials to atoms (source: „A snapshot of nanotechnology“ Na- for all those processes that tional Cancer Institute) occur at the surface of a material. sunscreams). Hist or y of Ge ne tic s 15 of nanomaterials is that they can be fabricated atom by atom by a process called bottom-up. Application of nan- otechnology in medicine.g.

to a time when text. In fact the and 1960s both Massachusetts glyphs represent sounds that all add Institute of Technology as well as up to a word that approximately Harvard Medical School brought means “skull-offal.’ Even though how we perceive the world around organ as well as their unexpected the history of genetics dates back us. istry. individuals. The investigations into the brain many neurological functions and named after an Egyptologist who and allusions to it as the center of who is considered by many to be purchased it in 1896 at which time intelligence varied throughout early the father of neurogenetics. but logical. In fact. Staying true glyphs. a time at which tence.” which is not together studies of biology. Moreover. it was deciphered to have been history. namely neurogenetics thought and emotion. the first traces of as their visual abilities were also Gregor Mendel published his neuroscience date back as far as mentioned in various cases in the genetic inheritance concepts. and the same motor functions rogenetics began to expand in the the ancient Egyptians referred to are tested today as means to inves.16 H i st o r y of G en etics A LOVE S T O RY Elma Ferić Bojić     NEUROSCIENCE AND GENETICS                                     “folded cloth” and a final suffix that brain and spinal cord. the link between genes. beautiful renditions of the organ No pun intended. perhaps the tissue they use to think was become and function of the nervous system. even those belonging indicate “brain” is made up of four demic programs strictly devoted to the same species. Seymour Benzer (Figure 3). it was the heart Subsequent advances in tech- that was regarded as the center of nologies in molecular biology and intelligence and thus given a lot genetics and a desire to understand more attention. While the events in the twentieth century. 1960s. who illustrates this fact is termed the utilized the fruit fly to elucidate Edwin Smith Papyrus (Figure 1).” “reed. bined the studies of neuroscience The brain is the center of inations referenced in the papyrus and genetics. the organ responsible for repercussions of injuries to that the ‘Genetic Brain.ability to speak and walk as well of the papyrus. namely “vulture. the ancient ders gave birth to a field that com- physician that conducted the exam. papyrus reveals how they did not more advanced are reflected in In this endeavor. Figure 1 Edwin Smith Surgical Papyrus Despite the lack of respect that the brain and neurological disor- and First Symbol for ‘Brain’ was given to the brain. Yet it took humans quite some symptoms in the rest of the body. and. the term used to significant enough to justify aca. neural character- think about the brain. since ancient Egyptians (Figure 2) and indications that of neurogenetics is the study of the from this period did not have a humans’ understanding of the very role of genetics in the development word for the organ. In the 1950s means “little” (Figure 1). fication. just time to comprehend the ins and Head injuries that affect people’s a few decades before the purchase outs of the center of their exis. heart and eye each had their whereby universities deemed it and are assumed to be unique to own unique words. physics and mathemat- sidering that the organ was teased ics and became the first to estab- out through the nose and subse. istics are considered phenotypes hand. departments.was aware of the life-threatening and gave rise to a concept termed tially. behavior.” to studying the functions of the to its name. neu- 5000 years ago. essen. lish free standing Neuroscience quently thrown out upon mummi. pioneered by the research of it cryptically. neurogenetics draws BurchGene Magazine | May 2016 . The document that tigate possible brain injuries. The Middle Ages produced written in approximately 3000BC. con. chem- entirely respectful. but at the heart However. to the late nineteenth century.

in closely. it focuses on source of ongoing research. ulation and thereby enabling more ing of a gene without alterations of pline that aims at elucidating those readily discernible linked dis. and they are still at there are an increasing number of the brain. disorders is only 50% concordant in genet- such as Parkinson’s. ders has tended to focus on gene and thereby point to gene-envi- polymorphisms. the genetics behind more genetic code. individual feels. nology that enables us more so vast variation in our species. its expressed traits. which is why the last ing between what is real and what decade of the 20th century was is imagined and with expressing marked by an increase in identi. genetic polymorphisms that are organ. to a disease than what exists in the an organism’s genetic code affects pointed. rently no reliable treatment para. One of dominant field of study termed the impact of genes on the struc. Alzheimer’s and However. thinks and acts. turn highlights the present view of eases include amyotrophic lateral the dynamic and thereby complex sclerosis (ALS). which implies that there is more and genetics while it focuses on orders have genetically been pin. brain deterioration. epilepsy as of different life-events may predis- well as ALS.” ~D. Figure 3 Seymor Benzer and a atric disorders more so than others Drosophila BurchGene Magazine | May 2016 . more than any other the center of much research con. Alzheimer’s. example of this idea is schizophre. Furthermore. such as histone de-acetylation and and dysfunctions. A powerful than ever to comprehend the inner enabled linkage testing. after Leonardo Da Vinci photon of light. the DNA sequences. This. The contribution of studied. up to hundreds of times per second.E. ically identical twins. If you represented each of Figure 2 Inner Aspects of the Human Skull these trillions and trillions of pulses in your brain by a single Wenceslaus Hollar. pose some people to certain psychi. it?! How is that for a mind blow. Hist or y of Ge ne tic s 17 “Three pounds of the most complex material that we’ve discovered in the universe. These advancements still mainly unknown. despite the fact that field of neurogenetics that is that Huntington’s. the combined output would be blinding. Examples of genes that determine or drive our eases are genome wide association these phenomena are mechanisms individuality including diseases studies (GWAS). a disease that affects how an use as we attempt to comprehend and gene defects. the new developments that resulted epigenetics. the severity Fragile X syndrome. or the anal. And each one contains the entire human genome and traffics billions of molecules in intri- cate economies. normal emotions in social situa- fying genetic roles in neurological tions. Each cell sends electrical pulses to other cells. complex neurological disorders is a This points to a presently in its dynamic nature. In other words. which variability within the human pop. and while it included. This is the mission control center that drives the whole operation. ronment interactions that have the But how lucky are we to live in ally silent differences in DNA frag. they still lack to fully environmental influences that can genetics to the understanding of account for much of the variance have long-lasting effects on brain cognition and psychiatric disor. The cause of the disease is disorders. seen in many psychiatric illnesses function and wellbeing. Your brain is built of cells called neurons and glia – hundreds of billions of them. workings of the very organ that we ysis of the linkage between DNA nia. or the function. is under strong social and ducted today. 1651. that chiatric disorders. mind teaser? genetic analysis more feasible and have a difficult time distinguish- available. heritable changes in the function- means that neurogenetics is a dici. gathering dispatches through small portals in the armored bunker of the skull. long-term developmental changes and must therefore be studied apeutic drugs that could reverse in chromatin structure. further advancements in of environmental events that cause of effects on one’s quality of life neurogenetics might yield to ther. Each one of these cells is as complicated as a city. ability to account for much more a time of rapidly advancing tech- ments that are responsible for the of the causes and origins of psy. among many. And while cur. The earliest studied dis. advancing technology made Those who are affected typically brain twister. namely an area that ture and function of the brain and in possible elucidations of genetic focuses on the study of reversible peripheral nervous system. aspects from both neuroscience While simpler diseases and dis. DNA methylation of non-coding Therefore it is safe to claim digms exist that effectively reverse sequences which induce long-term that mutations in the neurogenetic progressions of neurodegenerative silencing of transcription as a result sequence may have a wide range diseases.

and engineer ferring genes. the tools to efficiently Basically. manipulate viral than viral vectors. Right now. our body’s ability to fight disease. Scientists have gene to the patient’s target cells. from making color of our eyes to regulation of complete body systems. BurchGene Magazine | May 2016 . the most commonly the 1970s. in progress. including cancer. to as transfection. Kenneth Culver W. Scientists used these in order to cure disease or improve Viruses have evolved a way of techniques to isolate genes. they can cause disease. If genes don’t work properly. are called genes. genes to human cells in a patho- must be used to deliver the correct genic manner. have been used in ~70% of the clinical trials to date. genetically altered to develop gene therapy become a faulty gene or adds a new gene carry normal human DNA is virus. various viral vectors and non-vi- ated by nonviral vectors is referred With the discovery of ral vectors. diabetes. Gene transfer medi. encapsulating and delivering their A carrier molecule (called vector). cystic fibrosis. by the papovavirus and SV40 was late gene expression. used this capability and manipu- There are two general approaches late the virus genome to remove for introducing genes into a cell: disease-causing genes and insert viral and nonviral. Hereditary units founds on DNA. Gene transfer medi. Viral vectors therapeutic genes. in the same time as as transduction. mechanisms of cell transformation genomes characterize and regu- they are fairly inefficient at trans. gene therapy replaces used vector. usually by introducing nucleic acid polymers in order to threat specific disease. available. first time appears during the 1960s gene therapy patients ated by viral vectors is referred to and early 1970s. They control much of our body’s shape and function. heart disease. Viral vectors Walking through history are extremely efficient at trans- Figure 2 Dr. recombinant DNA technology in hemophilia and AIDS. French ferring genes but can create some The concepts of gene therapy Anderson. Nonviral vectors experiments of genetically marked identify mutations involved in are considered to be much safer cells lines and the elucidation of human diseases. and Michael Blaese pose with safety risks. 18 H i st o r y of G en etics FROM GENES TO THERAPY Adnan Fojnica     GENE THERAPY                          Understand the gene therapy Gene therapy is a type of bio- logical therapy that involves alter- ing the genes inside body’s cells. but at present. Gene therapy seems like ideal solu- tion for treating a wide range of Figure 1 Inserting the vector in gene therapy diseases.

The experiments were so affected tissues. four. 1990). for the genes. White blood ingly higher levels of research how cells from people with ADA cells were taken from her. and been slow. French biology and improving vector of animals. best for cancer treatment. gene therapy could Figure 3 Seeing into the future of vision therapy. recting the disease was injected Finally on September 14. Baylor College of Medicine and Texas. and regulatory cassettes Gelsinger died. cells. ine deaminase were inserted into vided proofs of concept for mul- virus as a vector to carry the correct them. lyso. but in 1988. In 2000. this group of scientists conducted neered virus can be used safely in many experiments in which an humans and which TIL cells work Problems and Prospects enzyme-producing gene for cor. hemophilia. the researchers teamed While effective long-term treat. major advances have In 1986. dramatically successful gene-ther- In 1989. as well as increas- knowledge in order to demonstrate less against infections. Further develop. field occurred in September 1999. instead of bone marrow insights into gene interactions Pennsylvania. There has been sub- In 1985. This switch greatly increased and regulation. Gauscher’s disease. after her nine-year siderable promise has been given the Lesch-Nyhan disease. died in a clin- white blood cells (T cells). Namely. a genetic stantial public. apy trial was published. to the field. and the activity. W. A major setback for the with a dramatic increase in the Blood Institute. Fortunately for the gene therapy successful that the team began to as well as redesigning vectors. up with Dr. In 1983. Each girl was tions. Numerous preclinical deficiency could be modified in normal genes for making adenos. immunodeficiency disorder (SCID- people with malignant melanoma eases of the bones and joints are XI). animal-model studies have pro- tissue culture. clinical progress has cells was much more successful. French Anderson inase (ADA) deficiency. basic scientific knowledge of the cient hepatic enzyme. less than 1 year after look for ways to test the delivery mulations. leagues in Paris described results gene therapy would be in cancer phy. the first report of a system in people. suffering from a severe combined infiltration lymphocytes cells from cular diseases. from a study involving two children patients. even if number gene therapy treatments for many resulting from a gene-therapy trial of them wasn’t still enough. Cavazzana-Calvo and her col- to test how safe and effective the cystic fibrosis. an 1988 . proposed that one day. Richard Roblin and Theodore Friedmann pub- lished a paper in Science called “Gene therapy for human genetic disease?” which is cited version of Stanfield Roger’s proposal from 1970 that “good DNA” could be used to replace defective DNA in people with genetic disorders . These being observed in the treatment of BurchGene Magazine | May 2016 . researchers learn two things: engi. old girl. a type of “marked TIL cells” helped the several types of immunodeficiency rare neurological disorder. doctors say they can use gene be a viable approach for treating therapy to reverse blindness. 1990 Since the first clinical gene-therapy into a group of cells. DNA marker into those cells. muscular dystro. at the National Heart. Lung. field. fied Ad5 vector to deliver the gene the number of correct genes taken ment often involves uncovering for ornithine decarboxylase. and eye disorders.and private-sec- and Michael Blease joined their disease which leaves her defense. a group of scientists from Houston.. found that Anderson helped develop this land. cardiovas. cancer. much attention and con- then be injected into people with therapy patient. which used a modi- cells. tor investment. when the term “gene surgery” was first introduced. some success is life in an isolated environment. they tried transferring the given repeated treatments over a been made in understanding vector correct genes into the bone marrow period of two years. Dr. design and production. W. ments for anemia. Also. genetic diseases and some acquired was reported. They had adenosine deam. Jesse Gelsinger. in tissue challenges and uncovered new ical trial at the University of culture. reinjected into her. iments. and genes. and dis. at the NIH Clinical Center.The scientists decided to use diseases has encountered many 18-year-old man. diseases. The corrected cells were tiple potential clinical applica- ADA gene into the cells. Based on this. a defi- up by the cells in the animal exper. Steven Rosenberg. transferring them to white blood mark clinical trial when he worked However. Hist or y of Ge ne tic s 19 Gene therapy first barrier appeared in the early 1970s. dr. The team cultured tumor somal storage diseases. diabetes. trial was conducted (Rosenberg et researcher theorized the cells could year old girl became the first gene al. They used a retro. amount of the correct genes being The development of suitable when a widely publicized death taken up by cells. for. In 1972. which had restricted them to and manipulate a virus to put a elusive today. Lesch-Nyhan disease.

and ability to function. struggle to find the right word in a conver- sation. Patients may have the gene for the amyloid precur- by Alois Alzheimer in his patient difficulties recalling recent events sor protein (APP) and the genes whose symptoms included loss or learning new information. These mutations involve case of Alzheimer’s was reported is memory loss. for the presenilin 1 and presenilin BurchGene Magazine | May 2016 .20 H i st o r y of G en etics I S ALZHEIMER’S IN YOUR GENES? Džana Mulaomerović     ALZHEIMER´S DISEASE                                     These symptoms occur because the early damage in Alzheimer’s is usually in hippocampus. Certain genes make you it is one of the major risk factors. however. “Alzheimer’s disease” in a medical history. The first Alzheimer’s. ogist Dr. involved in getting Alzheimer’s The discovery of Alzheimer’s disease. the neurol- AD cases. and forget appointments or anniversa- ries. of memory. Because of memory loss. paranoia and shrink- erative disease of brain that results age of the brain. perception or communication. Twin and family studies The disease usually affects indi. forget about recent conversations or events. dementia which brought aware- factors are just one of the factors ness to the disease. book in 1910. In 1976. the earliest symptoms or 21. forget names. Memory for life events that happened a long time ago is often unaffected in the early stages of the disease. Emil Kraepelin coined the term ant cause of the disease is family judgment. By this time several suggest that genetic factors may vidual older than 65 but it is not more cases with similar symptoms play a major role in at least 80% of a normal part of aging although were reported. or would develop prob- lems with other aspects of think- ing. Psychiatrist The second most import- in dementia or loss of memory. disease (AD) Symptoms of Alzheimer’s AD is caused by any one of a number of different single-gene AD is named after German For most people with mutations on chromosomes 1. Individuals with Alzheimer’s also have. 14 doctor Alois Alzheimer. genetic risk cause of 60 to 80 % of all dementia. person may have everyday difficulties such as: lose items around the house. Figure 1 If you have a brain. part of a brain that has major role in day- to-day memory. Robert Katzman declared more likely to develop Alzheimer’s Alzheimer’s is considered to be a AD the most common form of disease. reasoning. you are at risk for alzheimer The genetics of disease Alzheimer´s disease is a degen.

Some scien- in an autosomal dominant pattern. Scientists believe that mation. breast and prostate cancer com- and environmental factors are nized as potential “major killer”. while majority of people disease. Figure 3 Seymor Benzer and a of Alzheimer’s by using alternate ited. slowed tions causes abnormal proteins for. bined. toms before age 65. disease can be prevented. reserve”. •2 in 3 people with Alzheimer’s disease are women. disease. everyone with of development of Alzheimer’s about the precise biologic changes a brain is at risk for Alzheimer’s. more than 70 2050. Early-onset Alzheimer’s neurotransmitters in the brain. 60 and counts for 5% of all indi. sometimes in approved 6 medicines to treat the Studies suggest that major early 30s. but till the time identified yet could affect the risk much more has to be discovered we found answers. Administration (FDA) has been disease. education are at higher risk for Chances of getting AD Alzheimer’s and other demen- tias than those with more years Alzheimer disease is inherited of formal education.S. Each of these muta. Alzheimer’s kills more than and this suggest that other genetic years passed before it was recog. Hist or y of Ge ne tic s 21 Alzheimer’s statistics •Nearly 44 million people have Alzheimer’s or a related dementia worldwide •Only 1 in4 people with disease have been diagnosed. A hypothesis suggests that having child whose biological mother or more years of education increases father carries a genetic mutation the connections between neurons for early-onset FAD has a 50/50 which enables brain to compen- chance of inheriting the same sate for the early brain damages mutation. the child has a very strong Drosophila routes between neuron commu- probability of developing early-on. Those inheriting a muta. and how BurchGene Magazine | May 2016 . them stops the damage to neurons people with fewer years of formal caused by disease. early detection is key to preventing. Individuals with muta. improve symptoms of Alzheimer’s combination of genetic. nications to complete a cognitive set FAD. occurring at age 65 disease by increasing the amount of mental. tion in the presenilin 2 gene have According to World Health a 95% chance of developing the Even though Alzheimer’s Organization. The affect a person’s risk for develop- disease occurs in people age 30 to effectiveness of the medicines vary ing the disease.S was $226 billion in 2015 •Life expectancy after an Alzheimer’s is diagnosed is 4 to 8 years. The cognitive reserve anteed to develop Alzheimer’s. 2 proteins. The drugs temporarily causes of Alzheimer’s include a with Alzheimer’s have late-on.S. that cause Alzheimer’s. Efforts to cure the disease likely involved in development of The disease begins before any include Alzheimer’s disease disease. from person to person but none of Studies also suggest that viduals with Alzheimer’s. But not everyone who has disease was first identified more living with dementia will triple till mutations is getting Alzheimer’s. than 100 years ago. Food and Drug slowing and stopping Alzheimer’s tend to develop Alzheimer’s symp. environ- set disease. tists believe that having more years Individuals inheriting a mutation of of education makes a “cognitive APP or presenilin 1 genes are guar. •Alzheimer’s is most common in Western Europe •The cost of caring for Alzheimer’s patients in the U. but of genomic studies. If the mutation is inher. number of people disease. and lifestyle factors that or later. Researchers indicate that symptoms can be noticed. Treatment of Alzheimer’s or stopped. Research Sequencing Project and wide range many more genes that haven’t been has revealed a lot about disease. tions in any of these three genes U. •Alzheimer’s disease is listed as the sixth-leading cause of death in the U. tasks.

informatics and statistics combined together in one field to form bio- informatics. This dis- ams and species and microworld created by frequent sequencing. BurchGene Magazine | May 2016 .. Let’s take a look on the some Begining of this process is con. crimi.. new information from existing start reading ‘’book of life’’ nalistics. It The main purpose of the bioin. Their work helped ogy in their researches.C. Many scientific statistics to analyze different data duoble helix for DNA by Watson & fields starts to implement technol. With the usage of computers. became avail. These technological ino. leads to rapid development of nowdays different clinical data as basis for later genomic studies. (bovine insuline) was analyzed more detailed analysis of organis. gene expression data. ics was due to huge amount of data by Frederick Sanger. Biology. data. appeared in literature in 1991 (although there are some records that this term was used in conver- sation in 1985). which was used mostly which uses knowledge from One of the main landmark in military puproses.22 H i st o r y of G en etics A. It took too long for humans of science which.G & T Anis Čilić     BIOINFORMATICS                                      A. After World War II. play great sequencing. Although the founders of this science did not use term ‘’bioin- formatics’’ to describe their field of work. to store. also. such us sequences of nucleic acids Crick in 1953. follow and process all these things. especially comput. C. So. begining of ‘’sequencing journey’’ as new researches were done. Bioinformatics is scienece bioinformatics: technology. biology. mathe. computer science and discoveries was prediction of the able for scientists. Figure 1 Huge amount of data created by frequent sequencing were able to be matics and biology and on that way stored and analyzed only by computer. science. In 1955 first protein sequence vations allowed more precise and Development of bioinformat. compere and science and change it’s perspective. which keeps secrets inside them. medicine. for the first time. G & T are ‘’letters’’ that solve some of the crucial questions analyse date obtained from Human write ‘’book of life’’ inside each in life science and lay a foundation Genome Project and other genome of us. and also to discover to decipher these ‘’letters’’ and role in genetics. us in understanding genetic struc- of technology. different molecular pathways and ture and human genome and served ers. etc. Progression and proteins. science developed rapidly and thus science was divid- ing in some new fields. they knew how to make most of computer technology. which will leave a mark on a became imposible for human brain formatics is to store. These data were able to be stored Chemistry in 1958. covery earned him Nobel prize in and it’s secrets start to appear. so artificial memory came to the fore. today. This was the Information was accumulating and analyzed only by computer. what is bioinformatics? of the most important events that nected with the development of contributed to developement of technology. which.

in sequencing of human genome. in a large scale. ent organisms. sequencing. institute in Geneva announced the and offer appropriate solutions. HGP officialy begin and bio. pline of mapping. Fifty years after Watson’s and which will allow sequencing of Project).7 billion novel DNA sequencing method tiatet . This and first large achivement was and Paul Allen founded Microsoft year was also significant because in 1999 when first human chro- Corporation. they tried to obtain history of bioinformatics was ini. Discovery of this method ing human genome. in 1977. Novel Human DNA sequence was genome sequence was compleated method for sequencing DNA known unknown for a long period of time. All resources were invested concept of connecting networks and then Human genome organi. Sanger and group of his co-workers published the sequence of the 5S ribosomal RNA Figure 2 Intediscipllinary is bedrock of Biomedical Engineering from E. so in 1965. program is implemented and this informatics has important role and ism (phage) in 1980. All of this informatics started to gain attention lished. and sequencing. As new researches were performing creation of the protocols which BurchGene Magazine | May 2016 . there are a lot more to do and led to publication of first com. in Although great work was done and earned Sanger second Nobel prize 1990. Many researches were rithm for sequence alignment and and find matches between differ. and one was large investment . It is the first public database of protein sequences wihch consisted of totally 65 protein sequences that were listed in the Atlas. Crick’s landmark discovery. Sanger and his comparision is pubished.Coli. other great work was done. when Vint Cerf turbulent year: NCBI was estab. which allowed sciencist to reach engineers achieved great results In 1986 SWISS-PROT database all new analysis. Researchers con- tinue to make effort in the field of sequencing. and are sequenced: in 1995 bacteria tion to the Internet. and journey through ‘’book of life’’ as Sanger method was published Great effort was made in sequenc. Same year. During this period first genoms was one of the techincal founda. computer first databeses started to appear. which firstly analyzing genes.HGP (Human Genome $. One year later allowed sciencists to compare is increasingly interconnected with Smith and Waterman created algo. This study played important role in develop- ing of bioinformatics and data- bases such as GenBank. genome of Saccharomyces cerevi- and Robert Khan developed the lished at National Cancer Institute siae. The 1988 was genome & in 1996 first eukaryotic appeared in 1974. so by 1970 first algo- rithm for sequence alignement and comparision was created by Figure 2 That’s how Sanger sequencing works Needleman-Wunsch. first was created. Margaret Dayhoff published initial edition of the Atlas of protein sequences. ing. data.estimated colleagues continued research in of the most important project in costs were 1$ per base pair. in 1967. FASTA algorithm for sequence mosome was sequenced. Hist or y of Ge ne tic s 23 Sanger’s work led other research- ers to sequence different proteins. packet swithing network named ‘’Genomics’’ appeared for the first 1990s are years of genome sequenc- ARPANET was created. Same year BLAST improve in this field.Major milestone now is bioinformatics turn to find duced Personal Computer to the occured in 1991 . of computers. HGP On the other side. human larger segments of DNA. In 1969. and finally. Robert Holley published first sequence of RNA (alanine tRNA from Saccharomyces cer- evisiae) and beat Sanger in com- petition to be first who publish RNA sequence. done and data was obtained. reseaches in their researches. word from all around the world. make-up the World Wide Web of effort in sequencing. But it did not take to long for Sanger to sequence RNA. large amount of data has been pub- in Chemistry in 1980. sequences (nucleotide or protein) medicine. costs of HGP reached 2. During the year 1965.the research correlation between all these data market. Nowdays bio- plete gene sequence of and organ. was started. In 1975 Bill Gates sation (HUGO) was founded. While biolo- gists/geneticists were putting a lot and information was amassing. and during the same year IBM intro. This work time to describe the scientific disci.

scientists didn’t know to transfer a characteristic from that Before talking about the history it yet that DNA carried genetic infor. Philosophical interest The protein nature of the would permit it to function thus. strain to another strain. treat- ing the gene as an abstraction and the Mendelian analysis of exper- imental data as an algorithm. entists. Genetics is was something that could cause of protein. The first half of 20th century is often referred as classical genet- ics. principle. still widely used among scientists. of structure DNA possesses that ular level. in molecular genetics. and Maclyn McCarty. application of laboratory methods Griffith’s findings were followed Making the case for DNA and research strategies. During this period a concern of identifying gene products chem- ically has continued. one bacteria to transform from one type Geneticists knew about this work. not transferring gative approach that involves the a process known as transformation. that bacteria are capable of trans. not on investigative 1944 when three Rockefeller sci. the chemical constitution of the gene remained vague. Colin sugar rings attached to one another but on theory. by phosphate arms. This by research in the late 1930s and acting as the repository of the approach presupposes basic knowl. cule. a gene. In 1922 Muller had drawn the analogy between bacterial viruses and genes. Griffith’s experiment but the majority assumed that the even though the term molecular is was the first experiment suggesting DNA was acting as a mutagen. This ics is very rich and colorful in the ent reaction in the general metab. Nonetheless. however. This extract is important to understand the term mation. molecular and one non-molecular to another. regulation of genes. obtained from dead bac- events as well as characters that olism of the cell (heterocatalysis). ferring genetic information through the recipient cell. deoxyribonucleic acid (DNA). not made up of two sciences. was shown contributed to its development. and geneti- cists were content to assume it was a protein of a special kind: one that can both catalyze its own reproduc- tion (autocatalysis) and provide an Figure 1 The Avery–MacLeod–McCarty experiment BurchGene Magazine | May 2016 . In 1928. gene was called into question in Known to be a long-chain mole- has centered. Ostwald Avery. it has only research concerned the basic theory published their identification of the four kinds of side-groups attached about the make-up. its backbone composed of approaches or laboratory methods. genetic information. enzyme that catalyzes a quite differ. Morgan had set the tone. Early philosophical MacLeod. expression. but they knew that there contained only the minutest traces of molecular genetics. terial cells of one strain. the rest was DNA. altering the genetic constitution of Molecular genetics is an investi. and so-called transforming principle as to the sugars—the bases adenine.24 H i st o r y of G en etics A TRIP DOWN M E M O RY L A N E Dijana Sejdinović     MOLECULAR GENETICS                                      The history of molecular genet. early 40s that isolated DNA as the genetic specificities of the organ- edge about the expression and material that communicated this ism called for establishing the kind regulation of genes at the molec.

Leslieof a very early stage of the earth came this difficulty because their Barnett. the best is yet to come. Only thenuum”. did interest in the structure become 1986 by Walter Gilbert that neither The proposal of the double-helical widespread. DNA nor protein would be required model of DNA by James Watson In genetics the work of Sydneyin such a primitive system as that and Francis Crick in 1953 over. It marked a success in tone for scientist all over the world any kind of sequence of the bases. but when published alongside soning but had to accept that nature BurchGene Magazine | May 2016 . Francis Crick. Yet it was Instead. we can surely say that because of the above complementary relations. was published While these discoveries set the ar-phosphate backbones. regions of the DNA pro- This contrasts unfavorably with not until 1958 that evidence from ducing distinct proteins may the proteins. Brenner. a cylindrical one with the using mutagenesis in bacteriophage a catalyst and genetic information four kinds of bases packed inside to establish the general nature of storage processor. When we are talking and attaching free bases to those amino acids coded by given triplet about history of molecular genetics now unpaired in accordance with sequences of bases. in devising their proposed struc. applying the genetic approach to and started a race for research Moreover. In 1972. and for improvements and new con- alized the duplication of the gene without commas between the trip- cepts especially because the molec- as the result of separating the two lets. for they have twenty quite different approaches wasoverlap. It was the physicist George Gamow fast development and big interest. In particular. the genetic code. established by mathematical rea- ture. adenine with message is composed of triplets Everyday technology is progress- thymine. Therefore is the need to turn to the biochem- ists and the geneticists to solve the problem. Figure 2 Watson and Crick – discovery of DNA double-helix genes do not seem to sit side by side on DNA like discrete beads. The work of Rosalind Franklin and who had first suggested a DNA code the ideas that are currently unimag- Maurice Wilkins in London had for the amino acids in proteins. thymine. Walter Fiers and his team at the University of Ghent were the first to determine the sequence of a gene: the gene for Bacteriophage MS2 coat protein. so that the idea emerges different amino acids that can be published confirming predictions that “genes are one long contin- arranged in countless different made from the model. and cytosine. these bases are paired by questions at the molecular level. it offered crucial support. if RNA could perform as simply structure. This led to the idea that one gene can make several proteins. Meanwhile biochemists had ular genetics is based on laboratory chains of the parent double helix been establishing the identity of the techniques. read from a fixed start- ing and opening new possibilities Watson and Crick therefore visu. Richard J. and by 1966 the full details of the code were established. J. permits in 1961. He inable are soon going to become not only aided Watson and Crick had hoped the right code could be history. ing point. and development of molecular weak bonds across from one base to for they showed that the genetic genetics. It was first hypothesized in sequences. the two helically entwined sug. The amino acid sequences being discovered in proteins showed no limitations on the permutations of nearest neigh- bors of the kinds required by these mathematical codes. of bases. But the major transformation of genet- ics came with the introduction in the 1970s of the techniques of recombinant DNA technology that made directed manipulation of the genetic material possible. The successful sequenc- ing of many organisms’ genomes has complicated the molecular definition of genes. and R. Roberts and Phillip Sharp discov- ered in 1977 that genes can be split into segments. in only one direction. Watts-Tobin. guanine with cytosine. Hist or y of Ge ne tic s 25 does not use the most mathemati- cally elegant solution. They attacked it with vigor. its opposite number. guanine.

By painstakingly examining thou- acteristics have a greater survival sands upon thousands of flies with or reproductive rate than other indi. He recognized the math- ematical patterns of inheritance from one generation to the next. One of genotype is a group of organisms his students.Natural Selection Natural selection is the process by which species adapt to 3 1 91911-Chromosome 11 . a microscope and a magnifying viduals in a population and pass on glass.26 H i st o r y of G en etics 9 G R E AT E S T DISCOVERIES Ahmed Osmanović     GENETIC TIMELINE                                      2 1 8 61865-Heredity 5- Transmitted Heredity in Units Transmitted in Units Gregor Mendel. through his work on pea plants. genes are linked (meaning they or even different genes.] ated the first ever genetic map. one from each parent. a landmark event in genetics. Morgan and his colleagues these inheritable genetic character. are located on chromosomes like ference in survival and reproduc. Thomas Hunt Morgan and his stu- tion leads to evolutionary change dents study fruit fly chromosomes. some of the letters and doc- uments generated by Mendel were kept in the monastery archives. and that some tion between different genotypes. After his death. Simply put. He deduced that genes come in pairs and are inherited as distinct units. Mendel tracked the segregation of paren- tal genes and their appearance in the offspring as dominant or reces- sive traits.C h r o m o s o m e s C a r Carry ry GenesGenes their environment. [A always inherited together). when individuals with certain char. Mendel’s personal papers were burned by the monks. discovered the fun- damental laws of inheritance. Alfred Sturtevant. in what we are on the same chromosome and could call reproductive success. Luckily. 1 1859. confirmed the chromosomal istics to their offspring. beads on a string. cre- sharing a specific genetic makeup. Natural selec. theory of inheritance: that genes natural selection is a consistent dif. BurchGene Magazine | May 2016 .

Martha Chase.PCR Invented 11952-Genes 9 5 2 . Two groups. The Sanger method is most commonly employed in the lab today. genome . ability.1972. invented in Alfred Hershey & Martha Chase 1985 by Kary B.of members of our spe- cules form the twisted uprights of cies.DNA Double Helix The Human Genome Project (HGP) In 1953. of DNA. for the first time. technique is also used by crimi- iments in molecular biology. providing strong support The technique has revolutionized for the idea that genes are made many aspects of current research. the race to deter.together known as the deoxyribose and phosphate mole. Homo sapiens. the HGP gave us the ladder are formed by complemen. England. paired with C. In the past.D N A trace amounts. often a bacterium. scientists used radioactivity to mark the ends of DNA chains. using restric- tion enzymes. comparison. The did one of the most famous exper. both develop rapid DNA sequencing methods. infect it. an international research Laboratory in Cambridge. AIDS virus in human cells. with his defects and the detection of the research assistant. they use colored dyes. was one of the great feats of explo- mine how these pieces fit together ration in history . BurchGene Magazine | May 2016 . with colored dyes used to identify each of the four nucleic acids that make up DNA. Alfred Hershey was a including the diagnosis of genetic phage geneticist who. Recombinant DNA technol- ogy involves the joining of DNA from different species and subse- 8 quently inserting the hybrid DNA 4 into a host cell.Completion C o m p l e t iof on othe f Humant h e Genome Human 5 Project 1953. and Alan Maxam and Walter Gilbert. The rungs of the April inward voyage in a three-dimensional structure of discovery rather than an outward was won by James Watson and exploration of the planet or the Francis Crick at the Cavendish cosmos.7 5 Sequencing . Completed in the DNA ladder. Frederick Sanger and colleagues. occurred in the early 1970s. Mullis. allowed show that only the DNA of a virus scientists to make millions of needs to enter a bacterium to copies of a scarce sample of DNA.G e nAre e s Made Are M a d e of DNA of DNA The polymerase chain reac- tion (PCR) technique.First First b irecombinant nant recom- DNA DNA The first production of recombi- nant DNA molecules. 1983. 9 now. 22003- 0 0 3 . effort to sequence and map all of They showed that alternating the genes . PCR also affected evolutionary studies because large quantities of DNA can be manufac- 7 tured from fossils containing but 1 9 DNA 1975. Hist or y of Ge ne tic s 27 6 1972. to read tary pairs of nitrogen bases — A nature’s complete genetic blueprint always paired with T and G always for building a human being. The nologists to link specific persons to “blender” experiment proved that samples of blood or hair via DNA DNA carried genetic information.