Lesch-Nyhan Syndrome, a rare genetic metabolic disorder that affects mostly boys, causes brain and behavior problems, severe arthritis, and poor muscle control. The first report of Lesch-Nyhan syndrome occurred in 1964 when Michael Lesch and William Nyhan encountered brothers with symptoms at Johns Hopkins Hospital. Caused by a deficiency of the activity of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), symptoms of Lesch-Nyan syndrome can become apparent as early as six months old.
One 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[1]. 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. They also streamlined the process of identifying these mutations through direct DNA sequencing. Their research was groundbreaking, and this work was the first time that scientists were able to directly link a specific genetic variant to Lesch-Nyhan Syndrome. While there is no cure for Lesch-Nyhan Syndrome, organizations like Love Never Stinks are fueling hope through research readiness, like their 2025 Million Dollar Bike Ride.
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. 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.
[1] R.A. Gibbs, P.N. Nguyen, L.J. McBride, S.M. Koepf, & C.T. Caskey, Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA., Proc. Natl. Acad. Sci. U.S.A. 86 (6) 1919-1923, https://doi.org/10.1073/pnas.86.6.1919 (1989).
