Medical, pharmacy schools to co-host Rare Disease Day event

As Feb. 29 is the rarest of days, it provides the perfect opportunity to shine a light on rare diseases, which affect some 300 million people across the globe.

The Jacobs School of Medicine and Biomedical Sciences and the School of Pharmacy and Pharmaceutical Sciences are doing just that by hosting the Rare Disease Day symposium, “Care for Rare: From Bench to Bedside.”

The symposium will take place from 1-4 p.m. in the second-floor atrium and lecture hall of the Jacobs School, 955 Main St., Buffalo.

The event is free and open to the university community and its partners. Pre-registration is required by the end of the day on Feb. 21. To register, visit the Rare Disease Day page.

Rare Disease Day is an international initiative aimed at raising awareness of rare diseases by sharing the experiences of patients and presenting groundbreaking research toward treating and, in some cases, eradicating the diseases. Last February, the Jacobs School hosted a Rare Disease Day event for the first time in a virtual format.

“We’re excited for this year’s in-person event, which will include speakers discussing their research and clinical expertise in areas like bleeding disorders and pediatric neuromuscular disorders. In another session, faculty and staff will talk about their work with rare disease diagnosis and clinical care,” says one of the event organizers, Lindsey Alico, clinical assistant professor and genetic counselor in the Jacobs School. “Also, the event will provide the chance for students to share their work and network with professionals in the field.”

The goal is for attendees to recognize the challenges that rare disease patients face, along with the opportunities for them to make a difference.

“Although rare diseases may be individually rare, they are collectively common,” says Alico, who also directs UB’s nascent Genetic Counseling Graduate Program. “Considering that 72% of all rare diseases are genetic, genetic counselors are often involved in the care of these patients.”

Meagan Collins Hutchinson, a third-year MD/PhD candidate in the Jacob School who has a keen interest in rare diseases, spearheaded the launch of UB’s first Rare Disease Day event last year. Collins connected with Allison Brashear, vice president for health sciences and dean of the Jacobs School, who is the leading international expert on a rare condition called rapid onset dystonia-Parkinsonism. They and the other organizers hosted the event, which drew more than 70 attendees in a virtual format.

The pharmacy school became a co-host for the 2024 event, mostly due to the efforts of Mary Riedy, clinical assistant professor and the Margaret Hempling McGlynn Endowed Chair in Clinical Pharmacy in the Department of Pharmacy Practice. Riedy works with a multidisciplinary team to provide treatment recommendations and monitoring for patients with rare genetic and metabolic disorders. She also teaches an interprofessional elective course, Rare Genetic Disorders, which is open to students from the Jacobs School and the graduate clinical nutrition program, as well as the pharmacy school.

“You don’t have to be an expert in the field to encounter a patient with a rare disease,” Riedy explains. “I think it’s important for health professions students to understand the challenges patients and caregivers face, regardless of their future role or area of expertise.

“‘Caring for rare’ can take on many forms,” she adds. “This includes health care teams supporting patients through diagnosis and treatment journeys, researchers supporting discovery and innovative treatment, and community members supporting patient advocacy groups.”  

After Alico was hired in 2023, Riedy introduced herself in an effort to initiate collaboration.

“We both not only care for rare disease patients, but we also have a shared goal to educate health professions students,” Riedy says. “We thought collaborating to plan a Rare Disease Day event would be an exciting start.”

“Care for Rare” begins with opening remarks by UB alumna Margaret Hempling McGlynn, who serves as president of the Hempling Foundation for HCU Research and co-founder and president of HCU Network America.

At 1:15 p.m., Brashear and Yeh-Hsing Lao, assistant professor in the Department of Pharmaceutical Sciences, will highlight their cutting-edge rare disease research in the “Care for Rare: Bench” portion of the symposium. Lao will deliver his comments in person; Brashear will deliver hers virtually.

At 2 p.m., attendees will share their rare disease research in poster presentations and network with one another and visiting professionals. Tables will be available with information about current licensure efforts for genetic counselors in New York and the Leukodystrophy Care Network Certified Center at John E. Oishei Children’s Hospital of Buffalo.

The “Care for Rare: Bedside” session will run from 2:45-4 p.m., when UB faculty and staff will highlight their work in rare disease diagnosis and clinical care. The speakers are:

• Joseph Biddle, certified genetic counselor in the Division of Genetics, Department of Pediatrics.
• Osman Farooq, pediatric neurologist and clinical associate professor, Department of Neurology.
• Beverly Schaefer, pediatric hematologist and clinical assistant professor, Department of Pediatrics, and assistant professor of pediatric oncology, Roswell Park Comprehensive Cancer Center.

In addition to offering the symposium, UB is participating in the worldwide “Light Up for Rare” on Feb. 29. Organizers have arranged to have the Jacobs School light tower, the Center of the Arts and the Electric Tower in downtown Buffalo bathed in stripes of pink, green, blue and purple, the signature colors of Rare Disease Day. The Peace Bridge will also be lit up on Feb. 28 and Feb. 29.

Alico and Riedy note this event may lead to more frequent future collaborations.

“We hope to bring together those who interact with rare diseases on a regular basis who are otherwise siloed,” Riedy says. “Rare disease patients interact with many different specialties, and you don’t have to be a genetics expert to provide support and care to these individuals and their families.”