February 28th is recognized as Rare Disease Day around the world each year. This day is intended to bring recognition and awareness to the plight of the millions of people around the world that are living with a rare disease. It’s also a time to highlight the amazing progress that has been made in rare disease treatment and research. The National Institutes of Health (NIH) holds an in-person convergence at their Bethesda, MD headquarters on Rare Disease Day, bringing together community advocates, scientists, and other stakeholders for a day of testimony and celebration.
Patient Worthy was in attendance at this year’s event. The event began with opening remarks from NIH and National Center for Advancing Translational Sciences (NCATS) leadership. Members of the Rare Disease Congressional Caucus also submitted remarks over video. These remarks included the newest co-chair of the caucus, rep Doris Matsui (D-CA).
In her remarks, Doris highlighted that this was the 40th year of the pivotal Orphan Drug Act, a vital law that has provided critical incentives for the development of rare disease treatments which has resulted in a faster pace of new drug approvals and development. She re-iterated her commitment to supporting new policies championed by the rare community. Matsui has also demonstrated this commitment firsthand when she recently re-introduced the BENEFIT Act.
Officials from NCATS provided an overview of their resources and programs related to rare disease. Eric W.K. Sid, MD, MHA, Program Officer, DRDRI, NCATS, NIH discussed the Genetic and Rare Diseases (GARD) Information Center. He highlighted the challenges of working with rare disease data, such as the constant state of change in rare disease research and the thousands of different conditions, leading to partitioning of information. GARD is intended to be a tool for all rare diseases that can be an asset for both researchers and patients.
Elizabeth A. Ottinger, Ph.D., Acting Director, Therapeutic Development Branch, Division of Preclinical Innovation, and Uma Mudunuri, MS, Director, Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research, shared a similar project called RARe-SOURCE (raresource.nih.gov), an “integrated bioinformatics resource.” This is intended to improve access to data that is relevant for the development of rare disease treatments. Other resources that have been developed include the Rare Disease Alert System, which gives updates on progress in a given rare disease, such as trials, scientific studies, grants, and more.
There was also a session that focused on the needs of adolescents and young adults with cancer. The age 15-39 year group is considered under-served. Organizations such as Stupid Cancer, Inc., (represented at the event by CEO Alison Silberman) and Teen Cancer America, Inc., have been actively supporting this community and raising awareness.
This is just a taste of what was shared at Rare Disease Day at NIH. You can view a videocast of the day’s presentations here.
