Rare Disease Research at NINDS



When most people think of neurological disorders, a small number of diseases that affect millions of people-such as epilepsy, Parkinson's disease, and stroke-come to mind. While we focus a majority of our effort on these devastating diseases, we also have very dedicated research programs devoted to finding treatments for numerous rare diseases, which are defined as conditions affecting fewer than 200,000 Americans. In fact, due to the prevalence of neurological symptoms in rare diseases-of the estimated 7,000 known rare diseases that lead to significant morbidity and mortality in 25 million people in the United States, a third are thought to include a neurological component-NINDS funds research into an extraordinary number of rare diseases.

Examples of rare neurological conditions that NINDS-funded scientists and clinicians study are amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy, and Huntington's disease. In addition, NINDS funded research of hundreds of other rare diseases, including cerebrovascular diseases, neurometabolic disorders, neuromuscular and neurodegenerative disorders, movement disorders, epilepsies and episodic disorders, channelopathies, mitochondrial encephalopathies, and childhood developmental and/or genetic syndromes involving autism or intellectual disability. 

Highlights of NINDS's efforts over the past decade to treat rare diseases include: the development of a new way to deliver replacement genes for slowing the development of childhood Batten disease, a rare and fatal neurological disorder; the creation of a new laboratory test for identifying trace amounts of the virus responsible for the life-threatening progressive multifocal leukoencephalopathy(PML); the discovery of a potential treatment for neurofibromatosis type 1, as well as the mechanism of action of the rare disease in which tumors grow within nerves; and the discovery of a drug that reduces neurological symptoms in mouse models of tuberous sclerosis complex (TSC), a rare genetic disorder associated with epilepsy and autism.

In addition to the individual grants we issue to fund research into rare diseases, NINDS plays a leading role in two NIH-wide consortia for researching rare diseases: the Undiagnosed Disease Network and the Rare Diseases Clinical Research Network.

The Undiagnosed Disease Network (UDN), funded through the NIH Common Fund, accelerates discovery and innovation in the way we diagnose and treat patients with previously undiagnosed diseases by improving diagnosis, expanding the search for diseases' source, and creating collaborative communities of researchers. Among the many activities NINDS has undertaken to support the UDN, we have recently established a Model Organisms Screening Center for evaluating the pathogenicity and function of approximately 200 gene variants per year identified through the UDN.

NINDS also is a major supporter of the Rare Diseases Clinical Research Network (RDCRN), a trans-NIH partnership with nearly 100 patient advocacy groups to advance medical research on rare diseases by providing support for clinical studies and facilitating collaboration, study enrollment and data sharing. In particular, NINDS oversees the RDCRN's Data Management and Coordinating Center (DMCC), which provides a secure, customizable coordinated clinical data management system for the collection, storage, and analysis of diverse data types from clinical researchers working on many different types of rare diseases.

In observance of Rare Disease Day at NIH, which takes place this year on Feb 29, I want to share with you the story of Dr. Susan Slaugenhaupt, a neurologist at Harvard University and Massachusetts General Hospital, and her career-spanning quest-supported every step of the way by NINDS-to discover and develop a treatment for familial dysautonomia, a rare disease that affects the development and survival of the sensory and autonomic nervous systems. Dr. Slaugenhaupt is an inspiration for the institute and a shining example of how a dedicated researcher with continuous, uninterrupted funding can provide much needed hope to patients.

Please follow this link to my new blog post about Dr. Slaugenhaupt's efforts to fight familial dysautonomia.