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Stopping the clock on KIF1A associated neurological disorder

July 29, 2024 at 12:30 pm US EDT


KIF1A associated neurological disorder is a rare neurodegenerative neurological disorder associated with seizures, autism, cognitive disability, spasticity, neuropathy, and optic nerve atrophy. The condition is caused by a large number of de novo heterozygous mutations acting through a dominant negative mechanism. An ASO to a polymorphism in cis with the disease causing allele was tested in a single pediatric patient and improved mobility, cognition, and behavioral arrests over the first year of treatment.




Wendy Chung, M.D., Ph.D., is a clinical and molecular geneticist and the Chief of the Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School. Dr. Chung directs NIH

funded research programs in human genetics of pulmonary hypertension, breast cancer, obesity,

diabetes, autism, birth defects including congenital diaphragmatic hernia and congenital heart

disease. She is a national leader in the ethical, legal, and social implications of genomics. She was

the recipient of the Rare Impact Award from the National Organization of Rare Disorders, and is a

member of the National Academy of Medicine and the American Academy of Physicians. Dr.

Chung received her B.A. in biochemistry from Cornell University, her M.D. from Cornell University

Medical College, and her Ph.D. from The Rockefeller University in genetics.




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