This intolerance-scoring framework is now being refined not only to help discriminate benign and pathogenic mutations in genes but also to identify pathogenic mutations in non-coding parts of the genome. In addition to gene discovery, the Goldstein Lab is also involved in the development of methods to aid the interpretation of genome sequence data, including the first approach that used population genetic data to identify genes and genomic regions most likely to carry mutations that cause disease. His group has also been involved in some of the early applications of next generation sequencing in the study of undiagnosed diseases and has discovered a number of new syndromes through the careful evaluation of individual patient genomes, including NGLY1 deficiency and, more recently, the neurodevelopmental disease caused by mutation in GNB1. Goldstein led the collaboration that discovered three novel epilepsy genes. Along with large networks of collaborators, the Goldstein Lab has been responsible for a number of well-known discoveries, including the gene responsible for alternating hemiplegia of childhood and the role of the IL28B gene in treatment response to hepatitis C infection.ДЄs director of the Sequencing, Biostatistics, and Bioinformatics Core for the Epi4K Consortium, Dr. Research in the Goldstein Lab covers a broad range of human genetics, from the identification of new disease-causing genes to the development of new treatment options that are targeted to the underlying causes of disease.

Actio biosciences