Medical Student Research Fellowship for Summer 2003

Mentor: Andrew Zinn
Department: McDermott Center
Room number: NB10.110
Mail Code: 8591
Phone number: 8-1615
E-mail: Andrew.Zinn
Project title: Identifying the Gene for X-linked Reticulate Pigmentary Disorder

Human subjects IRB approved project number (where applicable): 0401-189

Animal subjects IRB approved project number (where applicable): n/a

Project Type (patient-based research, animal-based research, or basic research; this characterization is only to permit a general classification for grouping similar types of projects) patient-based/basic research

Brief Description of Project:

Dr. Robin Carder in Pediatric Dermatology recently identified a Texas family with X-linked reticulate pigmentary disorder, an extremely rare genetic skin disease with systemic manifestations in males. Combining our family with a large family previously studied by collaborators, we narrowed the interval containing the mutant gene to a region of the X chromosome containing about 40 genes. The project involves using genome databases to identify these genes, designing PCR primers to amplify coding regions from an affected male, and sequencing the PCR products to look for mutations.

Previous Research Activities or Publications with Medical Students:

Supervised summer medical student research fellow Anuj Goel in 2002.

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