News

Long-Term Funding Agreement for Maintaining Biorepository

March 28, 2023

In January of 2023, Brad and Carolyn Hoffman we were invited to sit in on a weekly neuroscience lab meeting with Alex Rotenberg’s MD, PhD and the team from Boston…

Mouse Model Funding Grant Awarded

March 28, 2023

The SSADH Association has granted the funding request from Dr. Henry Lee and Dr. Alex Rotenberg of Boston Children’s Hospital (BCH) / Harvard Medical School seeking nine month interim funding…

MGH update from Dr. Pearl and Carolyn Hoffman

March 28, 2023

On February 16, 2023, Dr. Phillip Pearl and Carolyn Hoffman spoke to a group of genetic counselors at Massachusetts General Hospital (MGH) regarding SSADH Deficiency.  They were invited to speak…

Celebrating Dr. Mike Gibson’s Retirement

December 14, 2022

On December 9th we joined a handful of friends to celebrate Dr. Mike Gibson’s retirement dinner in Spokane, Washington. Dr. Gibson has been our beacon of hope for more than…

Dr. Lee Presents at 2022 AES Annual Meeting

December 14, 2022

Henry H. C. Lee, PhD, had the opportunity to present his very important work on SSADH Deficiency at the 2022 AES (American Epilepsy Society) Annual Meeting, December 2-6, 2022 in…

Fund Raiser for SSADH Deficiency

October 21, 2022

Wave of Hope Benefit Fund Raiser for SSADH Deficiency in honor of Amber and Haley Le Vine, two young women diagnosed with SSADH (Succinic Semialdehyde Dehydrogenase Deficiency).  It took seven…

SSADH EL-PFDD Meeting Proceedings  

July 13, 2022

Over a hundred patients, caregivers and doctors gathered from across the US, and from as far away as Asia, Europe and Greece to participate in the Externally Led – Patient…

EL-PFDD Meeting

June 6, 2022

The Externally-Led Patient-Focused Drug Development (EL-PFDD) initiative was developed for the Food and Drug Administration (FDA) to systematically obtain the patient perspective on specific diseases and their currently available treatments.…

Journal of Child Neurology Special Issue:

January 11, 2022

2020 Conference Proceedings of the International SSADH Deficiency / Conference Organizers: Phillip L. Pearl, MD, Melissa L. DiBacco, MD, Jean-Baptiste Roullet, PhD, and K. Michael Gibson, PhD Given the exigencies…

NINDS Awards two year grant: ERT for SSADH Deficiency

January 11, 2022

Granted awarded for Developing an inducible mouse model for gene replacement therapy in Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) Drs. Henry Lee and Alex Rotenberg of Boston Children’s Hospital were awarded…