News

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…

The American Epilepsy Society (AES) annual meeting for 2023 was held in Orlando, Florida from December 1-5, 2023.  The event took place at the Orange County Convention Center bringing together…

Over the past three and half years, Wardiya Afshar-Saber, Ph.D. a research fellow in Neurology at Boston Children’s Hospital in the Sahin Lab has been focusing on establishing a platform…

On Tuesday November 28th Dr. Phillip L. Pearl gave a talk, titled: Results of the SSADH Deficiency Natural History Study. This talk included a 1)     Review of the clinical, imaging, and neurophysiologic outcomes…

Amber and Haley, are two young, inspiring women who have an extremely rare metabolic disease called Succinic Semialdehyde Dehydrogenase Deficiency (SSADH); there are only 400 cases of SSADH worldwide. Amber…