Genetic Disorders Project

Common Genetic Disorders:

Achondroplasia
Albinism
Angelman Syndrome
BRCA 1 or BRCA 2
Chronic Myeloid Leukemia
Color Blindness
Cri du Chat Syndrome
Cystic Fibrosis
Down Syndrome
Duchenne Muscular Dystrophy
EDS
Edward’s Syndrome
Fragile X
Hemophilia
Hemochromatosis
Hypertrichosis
Huntington’s Disease
Klinefelter’s Syndrome
Leber’s Hereditary Optic Neuropathy
Marfan Syndrome
Maple Syrup Urine Disease
Neurofibromatosis
Noonan Syndrome
Patau Syndrome
Phenylketonuria (PKU)
Polycystic Kidney Disease
Prader-Willi Syndrome
Progeria
Sickle Cell Anemia
Tay-Sachs
Thalassemia
Trisomy X Syndrome
Turner Syndrome
XYY Male Syndrome

*Genetic disorder of your choice

 Brainstorm and Warmup

1. List the genetic disorder you will be researching. Then, briefly identify the cause of the
disorder:

Genetic Disorder Cause

Progeria • Progeria is caused by a genetic mutation in the LMNA gene.

Answer the questions below

2. What is a genetic mutation?
A genetic mutation is a change in the DNA sequence of a gene that can affect the way it
functions.

3. Define nondisjunction.
the failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during
nuclear division

4. Distinguish between:

a. monosomy and trisomy

Monosomy is a genetic disorder with the presence of only one chromosome where as trisomy is the presence of
three copies, instead of the normal two, of a particular chromosome of an organism.
b. Chromosome and gene mutations
A chromosome mutation is a change in the structure or number of chromosomes in an organism's cells
whereas a gene mutation is a change in the DNA sequence of a specific gene, which can alter the instructions
for protein production and potentially affect an organism's traits or health.
c. Germ cell and somatic mutations
A germ cell mutation is a genetic alteration that occurs in the cells that give rise to eggs or sperm, and can be
passed on to offspring while, a somatic cell mutation is a genetic change that occurs in the non-reproductive
cells of an organism, affecting only the individual and not being passed on to offspring.
You will create a PowerPoint or Google Slides presentation AND a works
cited slide. Your presentation should include the following:

1) Slide 1: Introduce the genetic disorder.

● What are the characteristics and symptoms?

2) Slides 2 and 3: What causes this disorder?

● What is the genetic cause?
▪ Chromosome mutation: include the type of mutation (deletion,
trisomy, monosomy, etc.), specific chromosome number effected
▪ Gene mutation: include the gene affected, how the gene is changed,
and what the protein the gene codes for does (relate back to the
symptoms if applicable)
● How is it inherited?
▪ Spontaneous mutation?
▪ Autosomal or sex-linked?
▪ Recessive, dominant, etc.

3) Slide 4: How common is this disorder?

● Incidence: What portion of human population is affected by disorder?
● Prevalence: Is any particular segment of the population at greater risk
(gender, ethnicity, etc.)? Why?

4) Slides 5 and 6: How is the disorder diagnosed?

● Why would someone get tested for this disorder?
● When is it tested for (prenatal, infancy, adult)?

5) Slides 7 and 8: What treatments are available for this disorder and its symptoms?
● Medications, procedures, therapies, support, etc.

6) Slide 9: What is the prognosis?

● What is the life expectancy for individuals with this disorder?
● What current research is being done to develop a cure? Give a brief summary
of who, where and what.

7) Slide 10: Include your citations on the last slide of your presentation.
● You must include 5 citations.
● 2 must be from articles you have read
Genetic Disorder Research Presentation Rubric

Exceeds Meets Below

Criteria
Expectations Expectations Expectations
What is this
Fully explains Touches on some Does not explain
disorder?
characteristics and characteristics characteristics
(_ points)
symptoms and symptoms and symptoms
Explains genetic
What causes this Fully explains the Does not explain
cause and
disorder? cause & how it is genetic cause and
inheritance in
(_ points) inherited inheritance
basic terms
How common is this Fully explains both Explains general Does not explain
disorder? incidence and incidence and incidence and
(_ points) prevalence prevalence prevalence
General
Fully explains why, Does not explain
How is this disorder explanation for
when, and how a why, when, or
diagnosed? why, when, and
person would be how testing
(_ points) how testing
tested occurs
occurs
Fully explores
What treatments are medications, Mentions some Does not explore
available? procedures, treatments but available
(_ points) therapies, & overly general treatments
support
What is the Fully explains life Briefly mentions Does not mention
prognosis? expectancy and life expectancy life expectancy
(_ points) research for a cure and research and research
Genetic Disorders
Completely done Somewhat done
worksheet Not completed
with accuracy with accuracy
(_ points)
Writing was not
Writing in a
completely done Writing was
PowerPoint/ Google professional and
in a professional poorly executed
Slides serious manner;
manner and and less than 10
(_ points) minimum of 10
minimum of 10 slides
slides
slides
Citations (__ Has more than 5 Has less than 5
Has 5 citations
points) citations citations
Presentation was
professional, spoke Presentation was
Presentation at an appropriate informal, hard to Did not give a
(_ points) volume, and did hear, and read presentation
not read from the from the slides.
slides.
PROGERIA
Some symptoms of Progeria are Growth Failure,
Distinctive Facial features, Hair loss, Skin changes
and Premature Aging.
They develop a characteristic facial appearance
including prominent eyes, a thin nose with a beaked
tip, thin lips, a small chin, and protruding ears
CAUSES
It is a rare genetic disorder characterized by
accelerated aging in children. The primary
cause of progeria is a spontaneous mutation
in the LMNA gene, which leads to the
production of a mutated protein called
progerin. Progerin disrupts the normal
functioning of the cell's nucleus, causing
various cellular and physiological
abnormalities. The accumulation of progerin in
cells results in premature aging, affecting
multiple organs and systems throughout the
body. Although the exact reason behind the
LMNA gene mutation remains unclear, it is
believed to occur randomly and is not typically
inherited from parents.
 INHERITANCE
It is generally not inherited from parents. It is a
sporadic genetic mutation that occurs randomly
during early development, often during the
formation of the egg or sperm. In most cases,
individuals with progeria have parents who do
not have the condition. It is an autosomnal
dominant disorder.
 HOW RARE IS IT?
Progeria, specifically Hutchinson-Gilford progeria
syndrome (HGPS), is an extremely rare genetic
disorder. It is estimated to occur in approximately
1 in every 4 to 8 million births worldwide. Given
its rarity, the prevalence of progeria is relatively
low.
HOW IS IT DIAGNOSED?
Clinical evaluation: A healthcare professional, such as a pediatrician or
geneticist, assesses the individual's medical history, family history, and
physical appearance
Physical examination: The healthcare professional performs a thorough
physical examination, paying attention to physical features associated
with progeria,
Genetic testing: Genetic testing plays a crucial role in confirming the
diagnosis of progeria. The most common genetic test performed is DNA
sequencing of the LMNA gene, which detects the specific mutation
responsible for progeria.
Progeria is usually found in infancy or early childhood. This often
happens at regular checkups, when a baby first shows the distinctive
signs of premature aging.
 TREATMENTS
Currently, there is no cure for progeria, and
treatment focuses on managing the symptoms
and complications associated with the condition.
The treatment approach for progeria typically
involves a multidisciplinary team of healthcare
professionals, and the following interventions
may be considered: Medications, Nutritional
Support and Physical Therapy.
 PROGNOSIS
It is a progressive and life-limiting condition, with
most individuals with progeria experiencing a
significantly shortened lifespan. The average life
expectancy for individuals with progeria is around
14 years, although some individuals may live into
their early 20s. The causes of mortality are usually
heart diseases and strokes.
RESEARCH

Genetic studies: Researchers are investigating the underlying genetic

mechanisms of progeria, including the LMNA gene mutation and its impact on
cellular function and aging processes.
Progerin inhibition: Progerin, the abnormal protein produced in individuals
with progeria, is a primary focus of research.
Gene therapy: Researchers are exploring gene therapy approaches to correct
the genetic mutation responsible for progeria
.Drug treatments: Several drug compounds are being investigated for their
potential in treating progeria.
CITATIONS
https://www.mayoclinic.org/diseases-conditions/progeria/symptoms-
causes/syc-
20356038#:~:text=Overview,generally%20appear%20healthy%20at%2
0birth.
https://www.progeriaresearch.org/
https://my.clevelandclinic.org/health/diseases/17850-progeria
https://www.webmd.com/children/progeria

https://www.genome.gov/Genetic-Disorders/Progeria