Posts by Carolyn Hoffman

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…

We are happy that after hosting the Externally Led Patient-Focused Drug Development (EL-PFDD) meeting, in July of 2022, the Voice of the Patient report has been submitted to the FDA’s…

Boston Children’s Hospital and Dr. Phil Pearl, have long been at the center or our mission to find a treatment for SSADH Deficiency. Pearl teamed up with Mike Gibson, PhD.…

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…

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…

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…

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…