Dr. Nancy Wexler’s groundbreaking research transformed our understanding of Huntington’s disease, a devastating inherited brain disorder. Inspired by her mother’s diagnosis, Wexler led landmark genetic studies in Venezuela that identified the first DNA marker for Huntington’s—an achievement that paved the way for new discoveries in human genetics and inspired the Human Genome Project. Her ongoing work as president of the Hereditary Disease Foundation and the legacy of her biobank samples continue to fuel scientific breakthroughs for Huntington’s and other genetic diseases.
read moreAt Yale, Dr. Flora Vaccarino and her laboratory are using advanced organoid technology—miniature brains grown from patient stem cells—to explore the genetic roots of neurodevelopmental disorders like ASD. Their research, powered by cutting-edge RNA sequencing, uncovered numerous genetic targets, including FOXG1, that may be implicated in neurodevelopment and, ultimately, ASD. With Coriell managing the NIMH Repository and Genomics Resource, the nation's largest psychiatric research repository, and collaborating with the FOXG1 Research Foundation, researchers have access to an unprecedented Biobank containing patient-derived iPSCs and blood samples from individuals with FOXG1 syndrome and their family members.
read moreWe are pleased to announce the expansion of the NIGMS Repository iPSC collection with the addition of several new disease-specific and isogenic control cell lines. The NIGMS Repository houses and includes iPSCs derived from apparently healthy individuals, patient-derived disease-specific iPSCs, and isogenic controls. These additions further strengthen the existing collection, providing researchers with enhanced tools for disease modeling, cell differentiation studies, target validation, drug discovery, functional genomics, and experimental controls.
read moreUsing samples from DM1 patients and unaffected individuals from the NIGMS repository at Coriell, these researchers created a technique that enables efficient, accessible screening to identify patients with undiagnosed triplet-repeat diseases. Future applications of this technology may allow for more efficient and effective automation of DM1 blood-sample detection, and potentially revolutionize genetic disease screening.
read moreIn 2010, a collaborative project between researchers from the Salk Institute for Biological Studies, the University of California, San Diego, and Penn State University investigated whether induced pluripotent stem cells (iPSCs) could be utilized to study complex neurodevelopmental disorders, like autism spectrum disorder (ASD), to develop better targeted therapies. By employing cell lines obtained from Coriell, the team successfully transformed skin cells, or fibroblasts, from patients with Rett syndrome (RTT), a genetic disorder that was formerly considered part of the autism spectrum, into iPSCs. From these iPSCs, the researchers generated neurons better to understand their structure and function in individuals with RTT and, more broadly, ASD.
read moreIn 1996, researchers from Millennium Pharmaceuticals, led by Deborah L. Nagle, PhD, made a groundbreaking discovery in Chediak-Higashi syndrome. Through DNA isolation, they determined some mutations that cause CHS and found that CHS may be a heterogeneous disease, with multiple root causes rather than a single cause in all patients affected. The same cell lines used in this study remain available today through Coriell’s NIGMS biobank for other scientists to continue using to advance critical research.
read moreIn 2018, Kasey Woleben and a small group of determined parents of affected children formed Cure Mito, originally named Cure SURF-1, one of the most common mutations causing Leigh syndrome. What began as a desperate response to the diagnosis of their children has become a nonprofit driving patient-led research. “We are trying to find something as quickly as possible to help our kids and slow this disease down,” said Woleben.
read moreIn 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.
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