|
|
|
|
|
|
|
Deborah Krakow, MD, has spent the last several years researching the genes that cause the development of skeletal dysplasias prior to birth. She is a member of the International Skeletal Dysplasias Registry, a NIH project that studies the natural history, treatment and basic causes of the skeletal dysplasias. The Registry has the largest archive of prenatal cases in the world.
During a National Institutes of Health-sponsored, UCLA Intercampus Medical Genetics fellowship, Dr. Krakow for two years studied the molecular basis of osteogenesis imperfecta (brittle bone disease). She discovered 37 new mutations in the collagen genes that make up the non-lethal type of osteogenesis imperfecta, creating a map of the mutation in 40 fetuses. Her current research, funded by another NIH-sponsored grant, involves the molecular genetics of Facio-Audio-Symphalangism, where she is attempting to locate the gene for this web-fingered, web-toed condition.
|
|
|
|
|
|
Disability Resources
