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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. — A mother of three, Carolyn Hoffman said her 30-year-old middle child, Sam, was an easy baby to raise. “Sam was the…

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 inherited disorders of neurotransmission. Additionally he shares the progress that his group has made with succinic semialdehyde dehydrogenase (SSADH) deficiency.…

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, CA. Charity spoke of the ground breaking work that Bond (pictured below) participated in just months before his passing, during…

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 over the next five years to increase our understanding of the disorder.  This will also allow for us to be…

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 evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many…

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 specialists, neuropsychologists, clinical and biochemical geneticists, laboratory scientists, and representatives from parent groups. This diverse group carried out a systematic…