Rare Disease Day Symposium March 24

NORTH HAVEN – Robert Burgess, a professor at the Jackson Laboratory, and Dr. Gyula Acsadi, head of neurology at Connecticut Children’s, will be the keynote speakers at the ninth annual Rare Disease Day Symposium at the Frank H. Netter MD School of Medicine at Quinnipiac University, 370 Bassett Road, from 1-5 p.m. on Friday, March 24.

This program, which the public can either attend in person or virtually, is free and open to the public. Clinicians can obtain 3.5 continuing medical education credits for attending. Register here.

The goal of Rare Disease Day is to raise awareness among the public and the medical community by focusing on the stories and challenges of individuals affected by rare diseases. By shedding light on rare diseases, event organizers hope to encourage physicians to learn more about these conditions and promote advocacy and research to improve diagnosis and treatment.

After Quinnipiac President Judy Olian and Dr. William Zempsky, vice chairman of academic affairs and research at Connecticut Children’s, deliver their opening remarks, Burgess will present the first keynote address, “Moving From Basic Science to Testing Therapies in Rare Neurological Diseases.” Burgess studies the molecular mechanisms of synapse formation, development and maintenance of peripheral neuromuscular junctions and retina.

A patient and provider panel moderated by Marsha Lanes, genetic counselor and medical educator for the National Organization for Rare Disorders, Inc., will include Michelle Duprey, a patient representing the osteogenesis imperfecta community; Lisa Costen, a family member representing the spinal muscular atrophy community; Dr. Julieta Bonvin-Sallago, a patient representing the glycogen storage disease community; and Lisa Little, a family member representing the spinocerebellar ataxia type III community.

Acsadi will present “Genetic Therapies for Neuromuscular Diseases.” He studies pediatric neuromuscular diseases and treats neuromuscular diseases, including Duchenne muscular dystrophy, Charcot-Marie-Tooth disease and spinal muscular atrophy.

Alison Oville, director of clinical trials at the Connecticut Children’s Research Institute, will moderate the roundtable discussion, “Providing Hope: Clinical Trials for Rare Diseases…It Takes A Village.” The panel will include Dr. Karen Loechner, a pediatric endocrinologist at Connecticut Children’s; Hendriana Nielsen, clinical research nurse manager, Connecticut Children’s Research Institute; James Santanelli, lead clinical research associate, Connecticut Children’s Research Institute; Jenny McCue, senior director of patient advocacy at Ultragenyx Pharmaceutical, Inc.; and Michelle Duprey, deputy corporation counsel for the City of New Haven and former director of the New Haven Department of Services for Persons with Disabilities.

Symposium Chair Carolyn Macica, director of research operations and development at Connecticut Children’s Research Institute and professor of medicine at Quinnipiac, will deliver the closing remarks.

The symposium also will include a reception, art exhibit, music, poster session and organization exhibits.

For more information, call 203-582-8652.