Hermansky-Pudlak syndrome: how cells make pigment
Hermansky-Pudlak syndrome and melanosome formation
This project looks at how genetic changes break the cell machinery that makes pigment in people with Hermansky-Pudlak syndrome so researchers can find better ways to help with pale skin, vision problems, and bleeding.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-11128746 on NIH RePORTER |
What this research studies
Researchers study special cell compartments called melanosomes that make pigment in skin and eye cells. They focus on genes and multiprotein complexes (like AP-3 and BLOCs) that sort proteins and lipids to melanosomes and how mutations in those parts cause HPS. The team uses laboratory cell models and molecular imaging to watch how cargo is packaged and moved along microtubules to forming melanosomes. Work may include patient-derived samples or human cells to connect the cell biology to symptoms people with HPS experience.
Who could benefit from this research
Good fit: People with a confirmed diagnosis of Hermansky-Pudlak syndrome, related oculocutaneous albinism, or family members willing to provide blood or skin samples are the most relevant candidates.
Not a fit: People whose pigment or vision problems are caused by unrelated conditions or who are not willing to provide samples are unlikely to directly benefit.
Why it matters
Potential benefit: If successful, this work could point to new targets for treatments or ways to correct pigment, vision, or bleeding problems in people with HPS.
How similar studies have performed: Previous lab studies have identified many of the protein complexes and trafficking steps involved in melanosome formation, but translating those findings into clinical treatments has been limited.
Where this research is happening
Philadelphia, United States
- Children's Hosp of Philadelphia — Philadelphia, United States (Active)
Researchers
- Principal investigator: Marks, Michael S — Children's Hosp of Philadelphia
- Study coordinator: Marks, Michael S
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.