In 1996, researchers from the International Agency for Research of Cancer made a groundbreaking discovery when they found through DNA sequencing that families with a history of breast or ovarian cancer can carry a genetic risk through mutations in the BRCA1 gene . This was a significant finding at the time, demonstrating that germline mutations were responsible for a majority of these cancer-prone families, leading to increased efforts in genetic testing and early intervention strategies for high-risk individuals. The cell lines used in this innovative study are still available at Coriell and have continued to be studied.
read moreIn 1995, researchers at the Eastern Virginia Medical School in Norfolk made a groundbreaking discovery for families who may carry Tay-Sachs disease. Their successful study demonstrated that even if both parents are carriers of the disease, a successful pregnancy and birth could still be accomplished with preimplantation genetic screening.
read moreWith 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 moreOne of the major breakthroughs in Lesh-Nyhan syndrome research came in 1989 when researchers at the Baylor College of Medicine and Howard Hughes Medical Institute led by Richard A Gibbs, Ph.D. made a discovery based on samples they ordered from the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research. For the first time, they demonstrated that the mutations responsible for Lesch-Nyhan Syndrome often occur as de novo events, new mutations not inherited from either parent.
read moreIn 2003, Francis Collins, MD, PhD, former NIH Director, and Senior Investigator at the National Human Genome Research Institute (NHGRI), and his colleagues published a groundbreaking paper using samples found in the NIA Aging Cell Repository at Coriell, sponsored by the National Institute on Aging (NIA). Their research discovered the genetic cause of progeria, a point mutation of the Lamin A gene, which helps maintain the normal structure and function of a cell’s nucleus.
read more2024 marked another year of remarkable progress and achievement at Coriell.
read moreDid you know that in 1995 researchers used two cell lines preserved in Coriell’s renowned biobank, the NIGMS Human Genetic Cell Repository, to make a game-changing medical discovery?
read moreCoriell’s bioinformatics scientists are an essential part of our team. They play a critical role in our cancer research, help make the samples in our care more accessible, and collaborate with scientists all over the world. Gennaro Calendo is the Associate Director of Bioinformatics at Coriell and answered a few questions about his team and their work.
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