Application of Genomic

and Personalized Medicine

Luiza Niyazmetova
October 3, 2011
Introduction
 Genomic and personalized medicine can be
used for:
 Diagnosing and preventing diseases
 Drug development
 Gene therapy
 Diseases treatment

Specific cases:
 Blood clots
 Colorectal cancer

 Breast cancer
Genomic Medicine. Gene therapy
Technique for correcting defective genes
responsible for development of a disease
 Methods:

 Insertion of normal gene into non-specific

location to replace abnormal gene

 Selective repair mutation (returning gene to

its normal function)

 Altering gene regulation (gene is not fully

active)
(Gene therapy, 2011)
Gene therapy. Successful trials
 2002 – child with X-linked severe combined
immunodeficiency syndrome (‘bubble baby
syndrome’) was cured
 2003- two children with leukemia was cured by

injecting blood stem cells with retroviral vectors

Limitations for gene therapy
 Immune response (rejecting viral vectors)
 Viral vectors (toxicity, inflammation)
 Multigene disorders (caused by multiple genes)
 Short lived-nature of gene therapy

(Gene therapy, 2011)

Innovations in gene therapy
 The use of nanotechnology
 Combination of 2 tumor suppressing genes

reduced the size of lung tumor

 Reengineering of lymphocytes (immune cells)

in the way that they can attack cancer cells of

metastatic melanoma
 Potential treatment for cystic fibrosis and

thalassaemia (low or no synthesis of globin

for haemoglobin) by correcting errors in
mRNA of defective gene
(Gene therapy, 2011)
Personalized Medicine. Blood Clots
 Common treatment: Warfarin (anticoagulant)
 Side effects:

 too little dose caused more clotting

 too much caused bleeding

 Since 2007 – Warfarin has been prescribed based

on individual genotyping
 Genotyping helped to show whether it is good

treatment or not, and the best dosage for this

particular patient
(Current Applications of personalized medicine,
2011)
Personalized Medicine. Metastatic colorectal cancer

 Common treatment: Cetuximab

 Improvement: Using biomarkers, scientists can

predict the response of patients organism to

the drug and whether it will effective or not
 This drug can be used only for patients with

normal KRAS protein (responsible for activating

mutation)
 In the remaining cases (about 40% of patients)

alternative treatments should be used

(Current Applications of personalized medicine,
2011)
Conclusion
 Techniques of genomic medicine is important
for the development of new treatments
 When gene therapy will be modernized, it will

be used more widely in medicine

 Personalized medicine can help to improve

some methods of treatment due to the use of

individual analysis of patient’s genome,
respond to drugs and effect of the
environment
 References
Current Applications of personalized medicine.
(2011). Retrieved October 1, 2011 from
http://genetichealth.jax.org/personalized-
medicine/what-is/applications.html
Gene therapy. (2011). Retrieved October 1,
2011 from
http://www.ornl.gov/sci/techresources/Hum
an_Genome/medicine/genetherapy.shtml