With no roadmap and almost no research available on NCBRS, Lee and his wife set out to start a small support group for families. At their first meeting, six families from across Europe gathered to hear from the geneticists at GOSH who spotted Reavey’s son years before.
read moreIn 1988, researchers at Emory University School of Medicine made a groundbreaking discovery using cell lines from the NIGMS Human Genetic Cell Repository at Coriell. Their findings demonstrated that a single base change in mitochondrial DNA results in LHON. This finding has affected all research moving forward on this disease and led to clinical gene therapy trials. One of the leading centers for LHON research and patient care sits right across the river from Coriell at the Willis Eye Hospital in Philadelphia.
read moreBased on numerous samples from Coriell’s NIGMS Human Genetic Cell Repository biobank, Elizabeth Neufeld and her lab at UCLA published a series of papers from 1996 through 2009 detailing the basis of Sanfilippo syndrome type B, the underlying mutations of the disease, identifying five mutations in cells of patients with Sanfilippo syndrome type B, as well as discovering that Sanfilippo syndrome type B is a tauopathy, a class of neurodegenerative disorders characterized by neuronal and/or glial tau-positive inclusions.
read moreThe NIGMS Human Genetic Cell Repository is now offering a new collection of cell lines to support research into frontotemporal dementia (FTD), one of the most common forms of early-onset dementia.
read morePostdoctoral researcher Tatanya Pozner's latest paper, Human iPSC Reprogramming Success: The Impact of Approaches and Source Materials, was published this January.
read moreNIGMS Repository staff traveled to Denver, Colorado, to attend and exhibit at the American Society of Human Genetics (ASHG) Annual Meeting.
read moreThe NIGMS Repository is now distributing 15 gene-edited induced pluripotent stem cell (iPSC) lines, supporting research into disease mechanisms and therapeutic development.
read moreTeam members from the NIGMS Repository traveled to Toronto this month to attend the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.
read moreThe NIGMS Repository now offers high-molecular-weight (HMW) DNA from an expanded range of source materials, including fibroblast and induced pluripotent stem cell (iPSC) lines.
read moreThe National Institute of General Medical Sciences (NIGMS) recently celebrated the 50th anniversary of the Human Genetic Cell Repository (HGCR), housed at the Coriell Institute, in its Biomedical Beat blog where writers shine a light on scientists and research backed by NIGMS.
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