This February 28th is Rare Disease Day and the National Institutes of Health (NIH) will once again be holding its annual Rare Disease Day Event. This day, and event, brings awareness to various rare diseases, how they affect patients, and addresses scientific challenges regarding treatment and research on these diseases.
There are an estimated 10,000 rare diseases. In the United States, over 30 million people suffer with rare diseases – a number that exceeds the population of more the common diseases we hear about so often like diabetes, Alzheimer’s, heart failure, etc. If more people are affected by rare diseases daily, then why don’t we know as much about these diseases or how to treat them? This is why Rare Diseases Day is so important, it brings awareness to this question and pushes professionals to want to focus more on these diseases they haven’t before.
At the NIH event, a who’s who of rare disease research and advocacy will be sharing their stories and latest developments. Some of speakers that will be at the event include:
- Joni Rutter, PhD, Director of National Center for Advancing Translational Sciences (NCATS)
- J. Brooks, PhD, Acting Director of the Division of Rare Diseases Research Innovation (DRDRI)
- Cary Harding, MD, Principal Investigator, Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium
- Marc Rothenberg, MD, PhD, Principal Investigator, Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
Also speaking will be a number of patients and patient advocates to cover a number of different topics of interest to the rare disease population. These topics include:
- Resources for clinical trials
- Resources for patients and families at the NIH
- Meeting the needs of adolescents and young adults with rare diseases
- Genetics, gene-targeted therapies
- Diversity, equity and inclusion
- Creating a natural history study
- Advocacy and industry collaborations to develop treatments
To see the full agenda, visit ttps://ncats.nih.gov/files/RDD_at_NIH_2023_Agenda_Preliminary_1-12-2023_508.pdf
The event is free to the public to attend, and will be held in person at NIH Main Campus (Natcher Conference Center) from 9am to 5pm EST. The event will also be livestreamed and available to the public for replay afterwards if they cannot attend.
To register for the event, visit https://hopin.com/events/nih-rare-disease-day-2023/registration
To stay up-to-date on the latest developments at the NIH and the Rare Diseases Clinical Research Network (RDCRN), visit https://checkrare.com/rare-diseases-clinical-research-network/