Voice of the Patient Report Submitted to FDA
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 Center for Drug Evaluation and Research Division of Neurology Products, Office of Neuroscience, for inclusion in the framework used to…
Read MoreConquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
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. about 15 years after he originally described SSADH Deficiency in a patient in 1983. Although, June of 2023 will bring…
Read MoreLong-Term Funding Agreement for Maintaining Biorepository
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 Children’s Hospital (BCH) / Harvard Medical School. It was beyond exciting to hear a dozen brilliant scientists talking about SSADH…
Read MoreMouse Model Funding Grant Awarded
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 of $48,990 to keep the gene replacement therapy project on the SSADH inducible mouse model moving forward until their next…
Read MoreMGH update from Dr. Pearl and Carolyn Hoffman
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 behalf of Rare New England, a nonprofit organization serving the rare disease community, whose mission is to bring together…
Read MoreCelebrating Dr. Mike Gibson’s Retirement
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 40 years and we were honored to have the opportunity to express our gratitude for all that he has done…
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