Huntington's disease is an inherited disorder causing parts of the brain to break down and die. People living with Huntington's develop uncontrollable dance-like movements. These symptoms can get worse over time or when the person is nervous or distracted.
These symptoms affected Dr. Nancy Wexler's mother, Leonore, who was diagnosed with Huntington's disease in 1968. That same year, her father founded the Hereditary Disease Foundation (HDF), dedicated to finding treatments and cures for Huntington's disease.
From 1978 to 2002, Dr. Wexler led a Huntington's Disease research project in the Lake Maracaibo region of Venezuela. She and her team collected samples from families with a high risk for the disease. In a groundbreaking 1983 paper, Dr. Wexler and her co-authors revealed that a genetic marker on chromosome 4, "G8", or as it is known by official designation, D4S10, was linked to Huntington's disease, making it the first genetic disease mapped using DNA polymorphisms[1]. This discovery, along with other pioneering efforts in human genetics by Dr. Wexler, ultimately launched a proof-of-concept framework that would go on to inspire the Human Genome Project[2].
Dr. Wexler has continued her research and supported advances in human genetics in her role as president of the Hereditary Disease Foundation. This year she released a memoir, My Life, My Science: Pursuing a Cure for Huntington's Disease, focused on her endless search for a treatment or cure.
The Coriell Institute has stored the samples Dr. Wexler collected in Venezuela in its Biobanks for more than 50 years as part of both the NIGMS Human Genetic Cell Repository and NINDS Human Genetics Resource Center. These blood samples have also helped researchers map genes linked to other diseases, such as familial Alzheimer's disease, kidney cancers, two types of neurofibromatosis, Amyotrophic Lateral Sclerosis (ALS), and others.
[1] Gusella JF, Wexler NS, Conneally PM, Naylor SL, Anderson MA, Tanzi RE, Watkins PC, Ottina K, Wallace MR, Sakaguchi AY, et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature. 1983 Nov 17-23;306(5940):234-8. doi: 10.1038/306234a0. PMID: 6316146.
[2] Wexler NS. Huntington's disease: advocacy driving science. Annu Rev Med. 2012;63:1-22. doi: 10.1146/annurev-med-050710-134457. PMID: 22248319.
