News
Phillip L. Pearl, MD is Director of Epilepsy and Clinical Neurophysiology and William G. Lennox Chair in the Department of Neurology at Boston Children’s Hospital and Professor of Neurology at…
The SSADH Association funded the creation of a new mouse model to be created at Boston Children’s Hospital by Alexander Rotenberg, MD PhD and Henry Lee, MPhil, PhD. This mouse…
Galibra Neuroscience has been awarded $500,000 through the U.S. Department of Health and Human Services. This grant through the Small Business Technology Transfer (STTR) program is to encourage research and…
Congratulations to Alexander Rotenberg, MD, PhD. for being named one of ten 2025 Harrington Scholar-Innovator Award recipient by the Harrington Discovery Institute, for his project titled ‘Gene therapy for a…
Wisconsin mother creates SSADH Association after her son is diagnosed with neuro disorder. Spectrum News Wisconsin | BY Abbey Taylor | PUBLISHED 12:59 PM ET Feb. 26, 2025 OCONOMOWOC, Wis. —…
Dr. Henry Lee, Ph.D., Boston Children’s Hospital, F.M. Kirby Neurobiology Center joins the Journal of Inherited Metabolic Disease (JIMD) podcast. Dr. Lee discusses the challenges of developing gene therapies for…
Charity Adams (Mom to Bond), Dr. Phil Pearl and Dr. Itay Tokatly Latz spoke at the 2024 PAME (Partners Against Morality in Epilepsy) event on December 5th in Los Angeles,…
We are thrilled to announce that the grant for the SSADH Deficiency Natural History Study was renewed by the National Institutes of Health (NIH) to allow collection of more data…
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional…
The guidelines were formed by an “SSADHD Consensus Group” including 23 participants from 19 institutions representing 11 countries from four continents. The group consisted of healthcare professionals including neurologists, metabolic…