The Manton Center for Orphan Disease Research
Mustafa Sahin, MD, PhD
Dr. Sahin received his MD and PhD in neurobiology at the Yale University School of Medicine. He completed an internship at Children's Hospital of Philadelphia and residencies at both Children's Hospital of Philadelphia and Boston Children's Hospital. He has received numerous awards, including a Mentored Clinical Scientist Development Award, a William Randolph Hearst Fund Award, and a Spinal Muscular Atrophy Foundation Young Investigator Award and the 2005 Young Investigator Award from the Child Neurology Society. Currently, Dr. Sahin studies Tuberous sclerosis (TSC), a multisystem disorder which can cause seizures and other neurological problems, and spinal muscular atrophy (SMA), a progressive muscle weakness disorder caused by the degeneration of the anterior horn cells in the spinal cord.
Three primary goals of Dr. Sahin's research:
- To understand the role of TSC genes in axon guidance
- To characterize role of the genes in SMA for axon outgrowth and guidance in vivo
- To identify RNA cargos and translationally-regulated neuronal targets of SMA