Calling for Reform in US Newborn Screening

May 3, 2024

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 revolutionize newborn screening in America. Alice did a great job to show the inequity in our system that has been…

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Gene Replacement Therapy Update

May 3, 2024

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 Gene Replacement Therapy project results using the SSADH mouse model.  This article title is Gene replacement therapies for inherited disorders…

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GC Biopharma builds mRNA manufacturing plant in South Korea

January 12, 2024

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 Korea The Hwasun plant will provide a comprehensive manufacturing capability to handle all stages of mRNA production.  The plant features…

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SSADH Presented at AES

January 5, 2024

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 healthcare providers, scientists, advocates, industry, and other professionals dedicated to better outcomes for people with epilepsy. Dr. Lee presented the…

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Neurobiology of SSADH Deficiency

January 5, 2024

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 for drug screening using induced pluripotent stem cells derived neurons for SSADH Deficiency. Dr. Afshar-Saber has de-stablished a robust in vitro model for…

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SSADH Deficiency becomes the topic for the Boston Children’s Hospital Metabolism Grand Rounds.

November 29, 2023

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 of the 5-year SSADHD natural history study. 2)     Correlate longitudinal changes of the course of the disorder with GABA activity…

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