“Bridging Health and Social Care” is the theme of the fourth annual observance of Rare Disease Day, hosted by the Frank H. Netter MD School of Medicine at Quinnipiac University. The global event raises awareness of more than 7,000 identified rare diseases that affect approximately one in 10 Americans.
Rare Disease Day at Quinnipiac is a free event that provides an opportunity for patients, family members and researchers to share their stories and promote education, awareness and advocacy. It takes place from 1-4:30 p.m. on Wednesday, Feb. 27, in the Center for Medicine, Nursing and Health Sciences at Quinnipiac, 370 Bassett Road. The event, which is free and open to the public, will feature a keynote address at 1 p.m., followed immediately by a poster session and reception at 4:30 p.m.
The keynote will be delivered by Monkol Lek, Ph.D., assistant professor of genetics at the Yale School of Medicine, and group leader of its LEK Lab, which was established in January 2018 to focus on understanding the genetic mechanism of rare diseases in order to develop new therapies. Lek was diagnosed with limb-girdle muscular dystrophy (LGMD), a rare muscle disease that leads to progressive muscle weakness and wasting. He studies the identification of genes associated with undiagnosed neuromuscular disorders, including various forms of LGMD.
After the keynote, a panel discussion will feature patients with rare diseases, including Ehlers-Danlos syndrome, X-linked hypophosphatemia, Duchenne muscular dystrophy, Parry-Romberg syndrome and Creutzfeld-Jakob disease.
“This event is important because Rare Disease Day raises awareness among the public and the medical community by focusing on the stories and challenges faced by individuals who are affected,” said Amy Steele, a second-year medical student and co-chair of the event. “By calling attention to these conditions, we hope to encourage advocacy and promote scientific research.”
Liz Cammett, a second-year medical student and co-chair of the event, said, “Many patients with a rare disease feel alone and have difficulty finding a physician who can help them. By connecting patients, families, caregivers and patient organizations, with health professionals, policy makers and researchers, we hope to improve the recognition of rare diseases and their management.”