Study of how RP2 mutations affect photoreceptor nerve cell development and vision
Official title: Investigating Photoreceptor Nuclear Migration Defects Caused by Loss of Retinitis Pigmentosa 2.
Funded at University of Michigan at Ann Arbor · NIH-11312655 · Data updated 2026-11-12
Researchers are studying how genetic changes linked to X-linked retinitis pigmentosa disrupt special nerve-cell movements in the eye, which can lead to blindness in people with RP2 mutations.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | July 1, 2024 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $496,819 |
| NIH project number | 5R01EY036019-03 |
| Project ID | NIH-11312655 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with X-linked retinitis pigmentosa or RP2-related retinal disorders may directly benefit from insights gained, particularly if future therapies target RP2 or Arl3 pathways.
✕Less likely to help
Results may have limited immediate benefit for individuals without RP2-related retinal disease or without access to future translational trials.
What this research studies
This project looks at how mutations in RP2 (a gene that helps regulate a key cellular switch) cause photoreceptor nuclei to misposition during eye development. By using mouse models that lack RP2, scientists will observe whether this misplacement affects light-detecting cells and how well they respond to light. The study aims to connect the cellular mislocalization to functional changes in vision, using eye tissue analyses and functional tests in mice. Findings could reveal new targets to preserve sight in people with RP2-related retinal disease.
Why it matters
Potential benefit: If successful, the work could identify how RP2 mutations lead to vision loss and point toward strategies to protect or restore sight for affected patients.
How similar studies have gone: Previous work linking ARL3 mutations to retinal development defects supports the potential for meaningful discoveries in this pathway.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Pearring, Jillian Nydam — University of Michigan at Ann Arbor
- Study coordinator: Pearring, Jillian Nydam
Related research
Other NIH-funded projects on the same topics.
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Inflammation in MERTK-related retinitis pigmentosa
This project aims to understand whether losing the MERTK gene causes retinal inflammation that leads to vision loss in people with MERTK-related retinitis pigmentosa.
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Enhancing cone survival in RP through targeted cell-specific CRISPR therapy
A patient-friendly look at a new approach to protect cone cells in retinitis pigmentosa using precise gene editing to support vision.
-
Oral, once-daily MC16 medicine for retinitis pigmentosa
A gene-mutation-agnostic pill (MC16) is being studied to help people with retinitis pigmentosa by addressing a common cellular problem in the eye.
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Role of IPM Proteoglycans in Retinal Health and Inherited Blindness
This grant studies how specific retinal extracellular matrix proteins (IMPG1 and IMPG2) affect eye health and contribute to retinitis pigmentosa, with potential implications for people who have or are at risk for inherited blindness.
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NAC Attack: a late-stage trial for preserving vision in RP patients
A large, multi-site study is testing whether taking a daily NAC pill can help people with retinitis pigmentosa keep more of their vision.
-
Non-invasive biomarker for mitochondria health in retinitis pigmentosa
Aims to test a new, non-invasive OCT-based biomarker to explain and predict how mitochondria function affects cone cells in people with retinitis pigmentosa.
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.