Conquering a rare metabolic condition: A family, a pediatrician, and two labs join forces

May 2, 2023

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…

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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 Children’s Hospital (BCH) / Harvard Medical School. It was beyond exciting to hear a dozen brilliant scientists talking about SSADH…

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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 of $48,990 to keep the gene replacement therapy project on the SSADH inducible mouse model moving forward until their next…

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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 on behalf of Rare New England, a nonprofit organization serving the rare disease community, whose mission is to bring together…

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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 40 years and we were honored to have the opportunity to express our gratitude for all that he has done…

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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 Nashville, Tennessee. Dr. Lee is the Science Program Manager of the Preclinical Research for the RSZ Translational Neuroscience Center and…

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