Michael York, a well-known British actor who has starred on the stage and in movies spoke at the National Press Club August 12, 2016, acting as a spokesman for a rare condition and a little known ailment called Amyloidosis.
As he explained, a number of researchers at universities, major medical centers, industry, and federal agencies such as NIH are working with patients to find solutions to help find the right solution for afflicted patients so they can better manage their lives perhaps with new experimental drugs.
In Michael York’s case, the rare condition was misdiagnosed for several years, before the actor ended up at the Mayo Clinic where a doctor with expertise in Amyloidosis was able to determine that he had a rare condition but it was not cancer. The actor underwent new treatments and has been in remission for three years.
There are more and more researchers studying rare conditions and diseases at NIH but as Michael York emphasized, more funding is always needed from federal agencies to find solutions to diseases that are not in the mainstream.
Right now, NIH’s National Center for Advancing Translational Sciences (NCATS) http://ncats.nih.gov supports a variety of programs serving patients who have any one of the 7,000 rare diseases known today.
The Office of Rare Diseases Research a part of NCATS http://ncats.nih.gov/about/center/org supports scientific conferences, a database of human bio specimen repositories, and the Rare Diseases Clinical Research Network (RDCRN) http://ncats.nih.gov/rdcrn.
The RDCRN consisting of 22 clinical research consortia works with researchers from multiple disciplines at hundreds of clinical sites around the world. Each consortium focuses on at least three related rare diseases, participate in multisite studies, and work with patient advocacy groups as research partners
The Data Management and Coordinating Center (DMCC) www.rarediseasesnetwork.org/dmcc provides for a high quality data collection and analysis and provides information sharing across the network.
NCATS also established the “Biomedical Data Translator” program called “Translator” https://ncats.nih.gov/translator which integrates multiple types of existing data sources. These include signs and symptoms of disease, drug effects, and intervening types of biological data relevant to understanding pathophysiology.
In addition NCATS is collaborating with the National Human Genome Research Institute (NHGRI) www.genome.gov to support the “Genetic and Rare Diseases Information Center” (GARD). The Center has comprehensive information on rare and genetic diseases available to patients, families, providers, researchers and to the public.