SSADHD: a metabolic and genomic approach to diagnosis
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence of pathogenicity often results in variants being overlooked as potentially causative, particularly in individuals with undifferentiated phenotypes. Consequently, many…
Read MoreGuidelines for diagnosis and treatment of SSADHD
The guidelines were formed by an “SSADHD Consensus Group” including 23 participants from 19 institutions representing 11 countries from four continents. The group consisted of healthcare professionals including neurologists, metabolic specialists, neuropsychologists, clinical and biochemical geneticists, laboratory scientists, and representatives from parent groups. This diverse group carried out a systematic…
Read MoreOne Million Dollars awarded to SSADHD Gene Therapy
Drs. Lee & Rotenberg were awarded approximately one million dollars for the next three years to fund their continued work on Gene Therapy. The funding will be coming through an Innovation Grants to Nurture Initial Translational Efforts (IGNITE) from the National Institutes of Neurological Disorders and Stroke (NINDS). Having documented…
Read MoreCalling for Reform in US Newborn Screening
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…
Read MoreGene Replacement Therapy Update
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…
Read MoreGC Biopharma builds mRNA manufacturing plant in South Korea
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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