Rare Disease Day is an international movement that started over 10 years ago as a way to increase awareness of the 7,000 rare diseases (those affecting ≤ 1 in 1,000 people) amongst the general public as well as policy-makers. Taken together, it is estimated that 25-30 million (or about 1 in 10) Americans have a rare disease. The majority of these diseases are inherited or caused by genetic mutations; and the majority of people that are affected are children.

It is important to raise awareness of the impact these conditions have of the lives of people and families. Investigating new treatments for these diseases is difficult for the pharmaceutical industry because each condition only affects a small number of patients and the financial investment involved in developing new drugs makes research and development too risky and cost-prohibitive. However, research on rare diseases is often applicable to and advances our understanding of more common diseases like asthma, heart disease, and diabetes.

There are many researchers and groups across campus that work on rare diseases affecting children. These programs include the Carolina Institute for Developmental Disabilities, the Marsico Lung Institute, the Gene Therapy Center, the Lineberger Comprehensive Cancer Center, and the various programs within the Division of Pediatric Hematology-Oncology, to name a few.

Locally, the UNC Catalyst For Rare Diseases within the Eshelman School of Pharmacy is hosting an event on Thursday February 27th from 11am-1pm in the Genetic Medicine Building where their researchers will review their projects and the Catalyst program’s overall mission. Additionally, representatives from the NC State Legislature, NC Rare Disease Advisory Council, UNC, the National Organizational for Rare Disorders (NORD), patient advocacy groups, and biotech companies will be attending a Rare Disease Day Symposium in Morrisville, sponsored by Syneos Health, giving presentations, and leading discussions regarding the current and future state of research.

The CRI would like to express our appreciation to all of the rare disease researchers across campus and invite everyone to participate in Rare Disease Day. To hear stories from patients, learn more about the impact and work being done on rare diseases, or to get involved in education, activism, view local events, or fundraising for rare disease research, please visit the NORD website.

If you would like to make a gift to support research fighting childhood illness, please visit our support page.