Posts by Carolyn Hoffman

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…

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…

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…

Drs. Henry H. C. Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L. Pearl, Mustafa Sahin, and Alexander Rotenberg teamed up to create a paper on the status of their…

The plant features a single-use manufacturing unit, reducing the risk of cross-contamination and facilitating the production of a number of products simultaneously. GC Biopharma builds mRNA manufacturing plant in South…