Leber’s hereditary optic neuropathy (LHON) is a maternally inherited mitochondrial disease that causes sudden, painless loss of vision. About 100 people experience the onset of LHON each year, and no one is too young or too old to become affected. The disease affects cells in your retina and optic nerve, called retinal ganglion cells.
.jpg?mw=200)
In 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.
While there is no cure for LHON, Idebenone, a medication initially developed to treat Alzheimer's disease, has been approved for use by the European Medicines Agency to treat LHON, and clinical trials are ongoing with positive results. Research and clinical trials are in process, and the LHON community got together earlier this summer to discuss updates on research, trials, and how to live a healthy lifestyle with LHON at the 2025 LHON Conference.
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/Biobanks.
