Genes that control skin, hair, and eye pigmentation
Molecular Determinants of Pigmentation (MDoP)
['FUNDING_R01'] · UNIVERSITY OF MARYLAND BALTIMORE · NIH-11241078
Finding genes and proteins that cause albinism to help people with pigmentation differences and related vision problems.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MARYLAND BALTIMORE (nih funded) |
| Locations | 1 site (BALTIMORE, UNITED STATES) |
| Trial ID | NIH-11241078 on ClinicalTrials.gov |
What this research studies
From a patient viewpoint, researchers are looking for genes that are missing or changed when pigment doesn’t form or move properly in the body. They compare DNA from people with unexplained albinism to reference samples and test candidate genes in cells and animal models such as zebrafish to see how those changes affect pigment and vision. The team studies how melanosomes (the pigment-making and -moving parts of cells) work and what goes wrong when specific genes are mutated. The goal is to fill gaps in genetic diagnosis and create a foundation for future treatments.
Who could benefit from this research
Good fit: People with unexplained congenital hypopigmentation or albinism, childhood vision impairment linked to pigmentation, or families seeking a genetic diagnosis are the most relevant candidates.
Not a fit: Those with acquired pigmentation changes from injury, infection, medications, or who already have a confirmed genetic diagnosis may not receive direct benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis for families and set the stage for therapies that protect vision or address pigment loss.
How similar studies have performed: Genetic and animal-model approaches have previously discovered many albinism genes, but a number of cases remain unexplained so this continues that proven line of work.
Where this research is happening
BALTIMORE, UNITED STATES
- UNIVERSITY OF MARYLAND BALTIMORE — BALTIMORE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: AHMED, ZUBAIR M. — UNIVERSITY OF MARYLAND BALTIMORE
- Study coordinator: AHMED, ZUBAIR M.
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 below.
Conditions: Candidate Disease Gene