Bulletin of the American Physical Society
85th Annual Meeting of the APS Southeastern Section
Volume 63, Number 19
Thursday–Saturday, November 8–10, 2018; Holiday Inn at World’s Fair Park, Knoxville, Tennessee
Session D05: Poster Session (6:00pm-7:30pm)
6:00 PM,
Thursday, November 8, 2018
Holiday Inn Knoxville Downtown
Room: Atrium
Abstract ID: BAPS.2018.SES.D05.31
Abstract: D05.00031 : Biophysical Study on the Leber Congenital Amaurosis (LCA) Using Computational Analysis
Presenter:
Namju Kim
(Choice Research Group)
Authors:
Namju Kim
(Choice Research Group)
Andrew Kyung
(Choice Research Group)
Gene therapy aims to deliver a healthy, functional copy of a gene to the patient’s cells via engineered viral vectors. A point mutation or silent mutation can have detrimental effects on one’s health. In the case of retinal diseases, a mutation in the RPE65 gene, such as Arg91Trp, can lead to Retinitis Pigmentosa or Leber Congeital Amaruosis. The onset of these conditions can heavily affect visual function, with symptoms that range from light sensitivity to poor peripheral vision.
This paper identifies and analyzes abnormalities in the genetic sequence that lead to mutations in patients with genetic eye disorders. A computational and biophysical study were performed with genetic mutations identified in RP patients, then a computational study was also performed with pathogenic mutations identified in LCA patients, examining sequence abnormalities in their DNA.
To cite this abstract, use the following reference: http://meetings.aps.org/link/BAPS.2018.SES.D05.31
Follow Us |
Engage
Become an APS Member |
My APS
Renew Membership |
Information for |
About APSThe American Physical Society (APS) is a non-profit membership organization working to advance the knowledge of physics. |
© 2024 American Physical Society
| All rights reserved | Terms of Use
| Contact Us
Headquarters
1 Physics Ellipse, College Park, MD 20740-3844
(301) 209-3200
Editorial Office
100 Motor Pkwy, Suite 110, Hauppauge, NY 11788
(631) 591-4000
Office of Public Affairs
529 14th St NW, Suite 1050, Washington, D.C. 20045-2001
(202) 662-8700