Rare diseases often don’t have the same name recognition that other neurological disorders might, such as Parkinson’s, epilepsy, or stroke. While NINDS devotes ample efforts toward research programs on understanding and treating these prevalent disorders, rare diseases have equally important stories to tell. These devastating diseases are defined in the United States as conditions affecting
Roughly one-third of rare diseases include neurological components and symptoms, motivating NINDS efforts in this space. Last year, I wrote about coordinated efforts at NINDS, across NIH, and on an international scale that bring together clinical and research experts toward better understanding and treating rare diseases. Studying these diseases can yield broad scientific and clinical impacts, in part because knowledge gained from studying rare diseases may be transferable to common diseases. Moreover, recent advances in the gene therapy field have contributed to renewed interest in approaches to individualized, gene-targeted therapies for the more than 70% of rare diseases with genetic causes. (Please be sure to read NINDS Deputy Director Dr. Nina Schor’s discussion of gene-targeted therapies and their promises and pitfalls on her blog, the Schor Line.)
Last fall, NINDS held a workshop on facilitating next generation strategies for gene-targeted therapies for patients with neurological/neuromuscular disorders, including rare conditions. The workshop, chaired by Drs. Beverly Davidson and Guangping Gao, convened a multi-disciplinary group of experts from academia, government, industry, and patient advocacy to identify key challenges, knowledge gaps, and potential solutions. Four working groups focused on control of gene expression level and location, improving vector delivery and distribution, enhancing pre-clinical models and manufacturing processes, and advancing clinical research and patient impact. The workshop closed with an open discussion of setting goals and future priorities.
Earlier this month, the National Advisory Neurological Disorders and Stroke Council (NANDSC) provided concept clearance for a proposed NINDS translational research network for ultra-rare diseases, defined as a disease that affects one per 50,000 people. This network would provide resources and funding to accelerate the translation of discoveries from academia to the clinic, facilitate timely delivery of therapeutics to patients with ultra-rare diseases, and enhance data management through standardization of practices and protocols. Such a network would therefore reduce duplicative efforts and reduce the cost of translational developments over the long term.
A recent study demonstrated rapid development of a gene therapy customized for a single patient after molecular diagnosis of a rare, fatal neurodegenerative disorder. This exciting case illustrates that the time is ripe for our planned network to harness and coordinate the latest technologies to reduce the time between diagnosis and treatment.
As we advance in our rare disease research efforts, NINDS will celebrate Rare Disease Day at NIH on Friday, February 28, 2020. This event, led by the National Center for Advancing Translational Sciences (NCATS) and the NIH Clinical Center, raises awareness among policymakers and the public about rare diseases and their impact on patients’ lives. I invite you to take part, wherever the day finds you.