How genes guide retinal cells to form

Gene regulation of retinal cell differentiation

NIH-funded research Albert Einstein College of Medicine · NIH-11195664

Researchers are mapping how key eye-development genes help retinal progenitor cells become the different cell types of the retina to inform care for people born with eye malformations.

Quick facts

Grant typeR01 grant
Study typeNIH-funded research
Funding institutionAlbert Einstein College of Medicine NIH-funded
Lab location1 site (Bronx, United States)
Project IDNIH-11195664 on NIH RePORTER

What this research studies

From my perspective as someone affected by an eye condition, this work looks at the genes that tell early retinal cells what to become. The team studies important developmental genes (like Six3, Six6, Sox2, and Pax6) using mouse and cell models and modern lab methods to see where these proteins bind DNA and how they change chromatin structure. They use techniques such as CUT&RUN to find direct binding sites, single-cell ATAC sequencing to look at accessibility in individual cells, and protein-complex mapping to see what molecular partners these factors use. The goal is to understand the molecular instructions that let retinal progenitor cells remain flexible and produce all retinal cell types.

Who could benefit from this research

Good fit: People born with congenital eye conditions such as microphthalmia, anophthalmia, or coloboma (or families affected by these conditions) would be most relevant to the biological questions and potential future studies.

Not a fit: Patients whose vision loss comes from unrelated acquired diseases (for example, typical age-related macular degeneration or diabetic retinopathy) are less likely to directly benefit from these developmental-focused findings in the short term.

Why it matters

Potential benefit: If successful, this research could point to molecular targets for diagnosing, preventing, or eventually treating congenital retinal malformations and inform future regenerative approaches.

How similar studies have performed: Prior animal and laboratory studies have shown these transcription factors are essential for eye development, but directly mapping their targets and chromatin interactions at high resolution is more recent and still emerging.

Where this research is happening

Bronx, United States

Researchers

About this research

  1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
  2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
  3. For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Last reviewed 2026-06-09 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.