WashU Rare Disease Symposium

FEBRUARY 28th IS RARE DISEASE DAY. 1 in 10 people around the world have a rare disease, defined in the US as any illness affecting less than 200,000 people. That’s 10,000 rare diseases and 300 million folks worldwide. On Rare Disease Day we band together to raise awareness and support research.

Matt Herndon, President of The Mitchell and Friends Foundation, celebrated Rare Disease Day in advance by attending the Rare Disease Symposium at Washington University in St. Louis, Missouri, on February 20th. While his wife, Michele, was doing her own advocacy with the Undiagnosed Diseases Network Foundation (UDNF) on the east coast, Matt sat at her table talking up the cause. (And sporting his official Mitchell and Friends hat!) This annual conference hosts speakers affected by rare diseases and researchers who are conducting valuable research and leading the charge. This includes Eric Green, M.D., Ph.D., the director of the National Human Genome Project, who was able to video-conference in and give a stellar presentation on the state of genomics research.

The highlight of the day was viewing some of the latest research into possible causes and treatments of Mitchell Syndrome—investigations which are ongoing at WashU. Dr. Zita Hubler and her student, Grace Robvais, both presented posters on Mitchell Syndrome, and were able to give an update on their investigation into antisense oligonucleotide (ASO) treatments for this deadly neurological disease.

It can feel lonely and hopeless battling a rare disease that so few people have. (As of today, we know of only 31 cases around the world of people with Mitchell Syndrome.) On Rare Disease Day, we remember that we are not alone, and that we are not hopeless. Together, we can defeat the rarest of rare diseases.

For more information about Rare Disease Day, visit https://www.rarediseaseday.org/