This Project Grant award of $684,891 from the National Eye Institute (NEI) under the Vision Research program (CFDA 93.867) will support research to address the challenge of interpreting the functional consequences of rare genetic variants of unknown significance in inherited retinal degenerations (IRDs). The key products and services to be delivered include: Developing and applying a high-throughput splicing assay to identify rare coding and non-coding variants that lead to aberrant pre-mRNA splicing as a contributor to the missing genetic causality in IRDs and other rare diseases. Performing a systematic survey of structural variants, such as inversions, translocations, and complex rearrangements, in unsolved IRD families using short-read and long-read genome sequencing approaches to identify additional sources of genetic causality. The award recipient, the Massachusetts Eye and Ear Infirmary, is a renowned non-profit hospital and research center affiliated with Harvard Medical School that specializes in ophthalmology, otolaryngology, and related medical research. The results of this research are expected to lead to new genetic diagnoses, enhance patient care, and provide opportunities for participation in clinical trials of potential therapies and approved genetic treatments for IRDs.
Mod # | Description | Reason For Modification | Federal Obligation (Click to sort descending) | Date (Click to sort ascending) |
|---|---|---|---|---|
| Not listed | $0 | 10/10/24 | ||
| Not listed | $684.9k | 9/9/24 |