1 in 100 people are

affected by a serious
genetic defect at birth
The Clot Thickens
Alessandra Leone
Independent Research
Mount Hebron High School
Overview
Background
Research question
Data collection & product
Questions

https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwid9saE1vrSAhWFMSYKHV-kBjoQjRwIBw&url
=http%3A%2F%2F2010.igem.org%2FTeam%3AFreiburg_Bioware%2FModeling&psig=AFQjCNGplN3QoCHrcbo1bB3NhgH89zi9Ow&ust=1490841101
562112
How much do replacement blood
clotting factors cost annually?
A. $5,500
B. $15,000
C. $73,000
D. $180,000
E. $200,000
What is Gene Therapy?
Experimental technique that treats or prevents disease
through inserting genes to correct errors in the DNA
Monogenic disorders
Hemophilia B
Sickle Cell Anemia
Cystic Fibrosis

http://www.bbc.co.uk/schools/gcsebitesize/science/21c_pre_2011/genetics/geneticdiseasesrev2.shtml
Viral Vectors: The
Problem
In vivo delivery
Adenoviruses
Retroviruses
Associated adenoviruses
(AAV)
Risks
Immune response
Potentially
pathology-inducing
Overexpression

http://www.yourgenome.org/facts/what-is-gene-therapy
https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwibjsWz1PrSAhWC2SYKHSvRA-cQjRwIBw&url=https%3A%2F
%2Flitscidarwin.wordpress.com%2F2014%2F02%2F10%2Fplaying-god-gene-therapy-ingenious-or-improper%2F&psig=AFQjCNGlCorOLsNolxwxuqhfbFtbm-kmVA&us
t=1490840663162652
My Research
Research Question:

Which viral vector is most efficient in delivering

therapeutic genes as treatment for hemophilia B?

Hypothesis:

The adeno-associated virus is most efficient in gene

delivery compared to other vectors such as
adenoviruses and retroviruses.
Hemophilia B
lack of factor IX production, resulting in lack of blood clots

St. Jude Hospital clinical gene therapy trials show:

Amount of factor IX increased 30%

Minimal increases in the FIX levels carry great impact on the patients lives

Risks40% of patients have virus antibodies

Data Collection
Meta-analysis
Compiled 4 studies of gene therapy hemophilia B trials
Analyzed the safety and efficiency of the vectors in each
case
Concluded that the AAV is most safe and efficient

https://www.google.com/url?sa=i&rct=j&q=&esrc=s&source=images&cd=&cad=rja&uact=8&ved=0ahUKEwiPkOOBqf3SAhVM7yYKHRR1DNgQjRwIBw&url=http%3A%2F%2Fwww.fanpop.com%2Fclubs%2Famber-the-penguin%2Fima
Final Product
https://www.animaker.com/animo/nchVZvpOfEdd
Conclusion

Reversing genetic diseases

remains gene therapys
greatest promise.
Questions?
Works Cited
Gene therapy for the treatment of hemophilia b [Video file]. (2013, June 19). Retrieved from
https://www.youtube.com/watch?v=CN61zN8pg8I
Hemophilia A and B. (n.d.). Retrieved from Indiana Hemophilia and Thrombosis Center website:
http://www.ihtc.org/patient/blood-disorders/bleeding-disorders/hemophilia-a-and-b/
Hemophilia B. (2014, March 4). Retrieved from
https://www.hemophilia.org/Bleeding-Disorders/Types-of-Bleeding-Disorders/Hemophilia-B
How does gene therapy work? (2016, October 18). Retrieved from https://ghr.nlm.nih.gov/primer/therapy/procedures
How is hemophilia treated? (2013, July 13). Retrieved from National Institutes of Health website:
http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/treatment#
Lambert, M. (2017, January 6). [Personal interview by the author].
Lillicrap, D., & Thompson, A. R. (2008). Gene therapy for the hemophilias [PDF]. World Federation of Hemophilia, (18).
Retrieved from http://www1.wfh.org/publication/files/pdf-1145.pdf
Marcovitz, H. (2011). Gene therapy research. San Diego, CA: ReferencePoint.
University of Oxford. (2015, January 8). Gene therapy for cancer and other diseases [Video file]. Retrieved from
https://www.youtube.com/watch?v=M_plg10Hn6E&list=PLSnUdyQgziZtlDwoVzVIHM4EDegePO3mE&index=4