Tay-Sachs is a rare genetic disorder caused by the absence of the hexosaminidase enzyme that helps to break down fatty substances called gangliosides, which can build up to toxic levels in the brain and spinal cord and affect the function of nerve cells. Signs of Tay-Sachs begin to show around 6 months of age, with infants displaying an abnormally strong startle response. As the disease progresses, development slows, and muscles begin to weaken. The gene that causes Tay-Sachs disease is found more often in certain populations like Eastern and Central European Jewish communities, the Cajun community of Louisiana, and the Old Order Amish community in Pennsylvania.
In 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 . This research could not have been completed without cells and samples provided by the NIGMS Human Genetic Cell Repository at the Coriell Institute. By 1996, almost 40 healthy children had been born worldwide after going through this preimplantation diagnosis process . Genetic testing has continued to grow as a field in the past 30 years, but these early discoveries were instrumental in shaping the landscape of preimplantation testing.
Since the founding of the NIGMS Human Genetic Cell Repository in 1972 at Coriell, this biobank has been home to some of the world's most important cell lines, representing a variety of disease states, chromosomal abnormalities, and many distinct human populations. Presently, samples from Coriell’s biobanks are widely used by genetic testing labs around the world and serve as important reference materials, ensuring that these labs’ results are accurate and useful for the patient communities that they serve. Coriell is also home to four other NIH-funded biobanks, distributes thousands of samples every year, and offers world-class research and biobanking services to scientists around the globe.
To learn more about our biobank collections, visit coriell.org/1/Browse/Biobanks.
