Rare Disease Day celebrated its 13th annual occurrence this year on February 29th, 2020. Rare Disease Day has been held on the last day of February since 2008, with events taking place throughout the month to raise awareness of both rare diseases and their profound impact on patients’ lives and the communities around them.
read moreThe NIGMS Repository was well-represented at the annual conference for the Association for Molecular Pathology (AMP) in Baltimore, MD this past November.
read moreThe NIGMS Repository has been selected by the National Institutes of Health to provide genetic reference samples for the All of Us Research program, an initiative designed to advance research into individualized health care.
read moreIn September, the NIGMS Repository attended and hosted the Coriell booth at the Global Genes’ RARE Patient Advocacy Summit, in San Diego, California.
read moreAnnouncing the launch of our Featured Publication series
read moreGlobal Genes’ podcast, RAREcast, recently interviewed the Coriell Institute for Medical Research’s Deborah Requesens, PhD, about the National Institute for General Medical Science’s Human Genetic Cell Repository at Coriell and the role that biobanking plays in genetic research.
read moreIn April, members of Coriell’s NIGMS Human Genetic Cell Repository attended the American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting in Charlotte, North Carolina and hosted the Coriell booth.
read moreThe Coriell Institute for Medical Research is proud to announce the release of new samples representing N-glycanase deficiency, caused by a mutation on the NGLY 1 gene, also known as Congenital Disorder of Deglycosylation (CDDG). These extraordinarily well characterized samples come from the National Human Genome Research Institute (NHGRI) Undiagnosed Disease Program (UDP) and will be distributed from the National Institute for General Medical Sciences (NIGMS) Human Genetic Cell Repository (HGCR) housed at Coriell.
read moreThe Coriell Institute for Medical Research (Coriell) has added induced pluripotent stem cells (iPSC) to its collection of highly characterized cell lines offered by Coriell and the National Institute of Standards and Technology (NIST).
read moreThis July, the Cure CMD Scientific and Family Conference in Washington D.C. brought together researchers, patients, families and advocacy groups in their push for research regarding congenital muscular dystrophy.
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