Novel Model Systems for the Study of Cone Disorders and Other Heritable Retinal Diseases

NIH RePORTER · NIH · U24 · $393,484 · view on reporter.nih.gov ↗

Abstract

Abstract We propose to leverage our existing biobank of nonhuman primate (NHP) DNA samples to extend our effort to identify potential NHP models for human Alzheimer's disease (AD) and Alzheimer's disease-related dementias (ADRD) through while exome sequencing (WES). This is in response to NOT-AG-20-008. Progress in this pilot project has the potential to rapidly build a significant resource that will facilitate further investigation of AD disease mechanisms as well as accelerate developments related to new treatments. Building on our existing DNA biobank, it is straightforward and cost-effective to extend our current study and build a novel resource for AD/ADRD by performing mutation screening across genes associated with AD/ADRD using WES. Indeed, in our preliminary analysis on a small set of individuals for which we have whole genome sequence data, we found individuals carrying pathogenic mutations in the known human AD gene MAPT. Therefore, the macaque model represents a golden but currently untapped opportunity for innovative research. It is feasible and cost-effective to leverage the existing infrastructure to generate a wide range of novel primate models (breeding lines with informative mutations) that will be invaluable for research concerning pathogenesis and the development of treatments for AD/ADRD.

Key facts

NIH application ID
10121833
Project number
3U24EY029904-03S1
Recipient
BAYLOR COLLEGE OF MEDICINE
Principal Investigator
RUI CHEN
Activity code
U24
Funding institute
NIH
Fiscal year
2020
Award amount
$393,484
Award type
3
Project period
2018-09-30 → 2021-08-31