January 28, 2021: Bringing urgency to the public health issue of rare diseases

In my November 2020 Director’s Message, I stated my hope that the same urgency to develop and deploy COVID-19 diagnostics and treatments now would be applied to the thousands of other untreatable diseases. No one has greater need for timely diagnosis and effective treatments than the estimated 30 million Americans who are affected by 7,000 different rare diseases. It currently takes 3–15 years for patients to receive an accurate diagnosis, and fewer than 500 of those 7,000 diseases have any specific FDA-approved treatment.

NCATS serves as the epicenter of rare diseases research at NIH. We are collaborating with many other Institutes and Centers to raise awareness about rare diseases as a public health issue, develop innovative approaches and technologies to understanding and treating rare diseases, and identify commonalities among rare diseases that allow us to target multiple diseases at once, thus increasing the pace of diagnostic and treatment development.

NCATS will advance the mission to raise public awareness of rare diseases at the annual Rare Disease Day at NIH (RDD at NIH) event, being held virtually on Monday, March 1, 2021. Rare Disease Day takes place worldwide on or near the last day of February each year — officially it occurs on that rarest day of all, leap day (February 29), but it is held on a neighboring date in non-leap years. As part of this global observance, NCATS and the NIH Clinical Center co-sponsor RDD at NIH each year to raise awareness about rare diseases, the people they affect, and the research underway to address scientific challenges and advance new treatments. This year’s event will feature the winner of the NCATS 2020 Rare Diseases Are Not Rare! Challenge, inspiring personal stories delivered in TED-style talks, and interactive panel discussions. New topics include COVID-19’s impact on rare diseases health care and research and the importance of health literacy and education. Unique “virtual” aspects will include virtual tours of the Clinical Center and the NIH gene therapy laboratories, videos, virtual exhibitor booths and poster sessions and online networking.

During RDD at NIH, NCATS scientists will provide an update on one of our most exciting initiatives to treat many diseases at a time, the Platform Vector Gene Therapy (PaVe-GT) program. By testing whether it is feasible to use the same gene delivery system and manufacturing methods for multiple rare diseases, PaVe‑GT aims to make gene therapy development and clinical testing more streamlined, less expensive and more accessible to more rare diseases. Nobel laureate Jennifer Doudna, Ph.D., a pioneer in the development of the gene editing technique CRISPR-Cas9, will be on hand to discuss the field’s latest advances and potential implications for treating disease. Doudna’s work is partly supported through the NCATS-led NIH Somatic Cell Genome Editing (SCGE) program, which is developing innovative technologies that improve and accelerate methods to edit the human genome for therapeutic purposes. Gene editing is particularly applicable to rare diseases because they often are caused by single-letter misspellings in particular genes, as was demonstrated just this past month in a preclinical model of the rare aging syndrome progeria.

COVID-19 pushed the community to put our minds and resources to developing treatments and getting them to everyone who needs them. Let us resolve to do the same for all those living with rare diseases. Learn about NCATS’ recent efforts to advance rare diseases research and join conversations about them at RDD at NIH.

Stay well,

Christopher P. Austin, M.D.
National Center for Advancing Translational Sciences