SSADHD Presentation at PAME
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…
Read MoreNatural History Study Expanded to 10 Years
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…
Read MoreSSADHD: a metabolic and genomic approach to diagnosis
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…
Read MoreGuidelines for diagnosis and treatment of SSADHD
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…
Read MoreOne Million Dollars awarded to SSADHD Gene Therapy
Drs. Lee & Rotenberg were awarded approximately one million dollars for the next three years to fund their continued work on Gene Therapy. The funding will be coming through an Innovation Grants to Nurture Initial Translational Efforts (IGNITE) from the National Institutes of Neurological Disorders and Stroke (NINDS). Having documented…
Read MoreCalling for Reform in US Newborn Screening
Alice McConnell presented at the World Orphan Drug Congress in Boston on April 25th. We are grateful to Alice who took the opportunity to speak out about the need to revolutionize newborn screening in America. Alice did a great job to show the inequity in our system that has been…
Read More