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- Leukodystrophy
Pediatric Nephrology - University Of Utah Hospital
Dr. Josh Bonkowsky is an associate professor of Pediatric Neurology (Pediatrics) and of Neurology. He obtained his MD and PhD degrees at the University of California. His undergraduate training was at Harvard University, and his Pediatrics and Neurology/Pediatric Neurology training was at the University of Utah and Boston Children's Hospital. His clinical studies are focused on understanding clinical features of leukodystrophies and genetics of complex human neurobehavioral traits, especially language impairments. Dr. Bonkowsky's clinical research group is investigating genetics of leukodystrophies to understand the genetic and medical impacts of these disorders. The Bonkowsky Laboratory is generating disease models for high-throughput drug discovery and investigating human neurogenetic diseases, specifically diseases of basal ganglia function and white matter diseases. On sunny afternoons, Dr. Bonkowsky enjoys trail running and learning to skate ski. Dr. Bonkowsky is rated as an Elite provider by MediFind in the treatment of Leukodystrophy. His top areas of expertise are CACH Syndrome, Adrenoleukodystrophy (ALD), Leukodystrophy, Krabbe Disease, and Gastrostomy.
Ingeborg Mann-Krageloh practices in Tuebingen, Germany. Ms. Mann-Krageloh is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Leukodystrophy, Metachromatic Leukodystrophy, CACH Syndrome, Pontocerebellar Hypoplasia, and Bone Marrow Transplant.
Odile Tanguy-Boespflug practices in Paris, France. Ms. Tanguy-Boespflug is rated as an Elite expert by MediFind in the treatment of Leukodystrophy. Her top areas of expertise are Leukodystrophy, Spastic Paraplegia Type 2, Spinal Muscular Atrophy (SMA), and Pelizaeus-Merzbacher Disease.
Summary: The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center


