Official websites use .gov

A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS

A lock ( 🔒 ) or https:// means you've safely connected to the .gov website. Share sensitive information only on official, secure websites.

Need Help

Elucidation the Epigenetic and Transcriptional Landscape of Spinocerebellar Type 7 Retinal Degeneration

Award Number: F30EY039130
ORGANIZATION: NATIONAL EYE INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS
PERIOD OF PERFORMANCE START DATE: 07/01/2026
PERIOD OF PERFORMANCE END DATE: 03/31/2029

Group Awards By:

View Award Description

Elucidation the Epigenetic and Transcriptional Landscape of Spinocerebellar Type 7 Retinal Degeneration - PROJECT SUMMARY Spinocerebellar ataxia type 7 (SCA7) is a rare, inherited neurodegenerative disorder characterized by progressive vision loss and cerebellar ataxia. The defining feature of SCA7, setting it apart from over 40 other SCAs, is its retinal degeneration, specifically a cone-rod dystrophy, as evidenced by dysfunctional cone photoreceptors in patient electroretinograms. The disorder is caused by a CAG-polyglutamine (polyQ) repeat expansion in the Ataxin-7 (ATXN7) gene. ATXN7 is a core component of the mammalian acetyltransferase transcription coactivator complex, and polyQ expansion has demonstrated epigenetic dysregulation. This condition, part of a wider group of polyQ diseases, presents a significant challenge due to its complex pathophysiology involving transcriptional dysregulation, which classified these disorders as transcriptionopathies. Despite this classification, the mechanisms linking mutant ATXN7 to retinal cell dysfunction and degeneration remain poorly understood. This project aims to define the transcriptional and epigenetic architecture underlying SCA7 retinal degeneration using an integrative multiomic approach. We will apply single-cell RNA-seq and ATAC-seq to retinal cells from SCA7 knock-in mice at presymptomatic and symptomatic stages to map enhancer-driven gene regulatory networks (GRNs) disrupted during disease progression. To complement and extend these findings in a human context, we will generate retinal organoids (ROs) from SCA7 patient-derived and isogenic iPSC lines. These in vitro models will be structurally and functionally characterized to evaluate photoreceptor organization, outer segment integrity, and visual cycle function. Single-cell multiomic analysis at key developmental milestones will identify human-specific transcription factor regulons and regulatory elements altered by ATXN7 expansion. Candidate regulators will then be targeted with CRISPRi/a or pharmacologic agents to assess their potential to restore photoreceptor structure and function. By integrating in vivo and in vitro systems, this research will define the gene regulatory circuitry disrupted in SCA7 and identify mechanistic drivers of cone-rod dystrophy. These insights will not only inform novel therapeutic strategies for SCA7 but may also be broadly relevant to other polyQ disorders and inherited retinopathies. Ultimately, this work seeks to bridge basic mechanisms of transcriptional dysfunction with therapeutic development in neurodegeneration. By identifying modifiable gene regulatory nodes, this research may lay the groundwork for future precision therapies.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2026 ( Subtotal = $48,179 )
2026	2026	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	001	1	6/22/2026	NEW	$0
2026	2026	UNIVERSITY OF CALIFORNIA IRVINE	160 ALDRICH HALL	IRVINE	CA	92697	ORANGE	USA	Vision Research	000	1	6/22/2026	NEW	$48,179
														Subtotal = $48,179

Grand Total All Awards = $48,179

Top

All Categories

About

Search

Reports

Data Submission

Award Information

Elucidation the Epigenetic and Transcriptional Landscape of Spinocerebellar Type 7 Retinal Degeneration

Award Number: F30EY039130

ORGANIZATION: NATIONAL EYE INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: FELLOWSHIP/SCHOLARSHIP/STUDENT LOANS

PERIOD OF PERFORMANCE START DATE: 07/01/2026

PERIOD OF PERFORMANCE END DATE: 03/31/2029

Federal Websites

Department of Health & Human Services

HHS Operating Divisions

HHS Staff Divisions

Download A Document Viewer