# Molecular Pathophysiology of Retinal Degeneration in Bardet-Biedl Syndrome

> **NIH NIH R01** · UNIVERSITY OF IOWA · 2020 · $381,250

## Abstract

Abstract
Mutations disrupting ciliary assembly and trafficking are a common cause of inherited retinal
degenerations, causing early-onset severe blindness. Bardet-Biedl syndrome (BBS) is one of the human
genetic diseases associated with defective ciliary trafficking and photoreceptor degeneration. However,
details of the patho-mechanisms underlying photoreceptor degeneration in BBS are largely unknown and
no effective treatment options have been developed. The long-term goal of this research program is to
elucidate the molecular and cellular mechanisms of photoreceptor degeneration in BBS and develop
therapeutic interventions to preserve vision in BBS patients. Our prior study determined that
accumulation of proteins in the outer segment (OS) is likely the primary cause of photoreceptor
degeneration in BBS, representing a novel mechanism of photoreceptor degeneration. During the next
grant cycle, we will explore how protein accumulation in the OS induces photoreceptor degeneration. Our
preliminary data suggest that OS accumulation/sequestration of Stx3 (a SNARE protein facilitating
membrane fusion events) and proteasomal overload stress are involved. The proposed study will
determine how these factors contribute to photoreceptor degeneration in BBS. The outcome of this study
will greatly advance our understanding of the cilia-related retinopathies and provide an important
foundation for the development of mechanism-based therapies.

## Key facts

- **NIH application ID:** 9852449
- **Project number:** 5R01EY022616-08
- **Recipient organization:** UNIVERSITY OF IOWA
- **Principal Investigator:** Seongjin Seo
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $381,250
- **Award type:** 5
- **Project period:** 2012-09-01 → 2022-01-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9852449

## Citation

> US National Institutes of Health, RePORTER application 9852449, Molecular Pathophysiology of Retinal Degeneration in Bardet-Biedl Syndrome (5R01EY022616-08). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9852449. Licensed CC0.

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