Dean Allson Brashear with logo promoting Rare Disease Day event.

Allison Brashear, MD, MBA, is a leading international rare disease researcher who will speak at the event. “Show Your Stripes” is a reference to the conventional wisdom that medical students often hear: “When you hear hoofbeats, think horses not zebras.” By contrast, rare diseases are seen as the “zebras” of medicine. 

Rare Disease Research to Be Showcased at Virtual Event

By Ellen Goldbaum

Published February 15, 2023

Myasthenia gravis. Krabbe disease. Rapid onset dystonia Parkinsonism.

“My goal is to spread awareness about rare diseases and research on them, and also to recognize that many of these patients are severely affected. ”
Meagan Collins
MD-PhD Program student

Most people have never heard of these diseases. That’s because they are among the 6,000 rare diseases that affect 300 million people around the world, including 1 in 10 in the U.S. But researchers at the University at Buffalo and other institutions are hard at work studying them and caring for the many patients who suffer from them.

On Feb. 28, the Jacobs School of Medicine and Biomedical Sciences at UB will hold a virtual event to recognize rare disease patients, their clinicians and the researchers working to discover the causes of these conditions and, ultimately, the cures.

Rare Disease Day is an international event aimed at raising awareness about rare diseases, sharing the experiences of patients with these conditions and presenting groundbreaking research.

The virtual event will be held on Zoom from 6-8 p.m. at (use meeting ID: 986 2827 9954,passcode: 227668).

MD-PhD Student Catalyst Behind Event

Meagan Collins, a MD-PhD Program student.

Meagan Collins

The idea for the event started with Meagan Collins, a second-year trainee in the MD-PhD Program in the Jacobs School with a longstanding interest in rare diseases.

While pursuing a master’s in neuroscience at McGill University, Collins studied rare diseases and worked as a research coordinator for a foundation focused on a group of rare conditions known as the GRIA, GRID, GRIK and GRIN-related neurodevelopmental disorders.

“There’s definitely a growing movement for rare disease research because you can apply a lot of the biology that we have learned from rare diseases to more common diseases,” she said.

When Collins arrived at the Jacobs School and realized that Allison Brashear, MD, MBA, UB’s vice president for health sciences and dean of the Jacobs School, is the leading international expert on a rare condition called rapid onset dystonia Parkinsonism, she had to approach her about holding this event.

Brashear readily expressed support for the event and agreed to give a talk about her research. She also pointed out that rare disease research is flourishing at UB.

“There is no question that the Jacobs School is an emerging powerhouse for research into a wide range of rare diseases,” said Brashear. “This event provides all of us studying rare diseases and anyone interested in such research to come together to share information and learn about all the amazing opportunities available in this exciting field.”

And once Collins began looking into who in the Jacobs School and in Buffalo were studying rare diseases and caring for rare disease patients, she was pleasantly surprised, not only by how many there were but also by how eager they were to participate.

“The list grew very fast,” she said. “When I started asking people if they would speak, I kept getting yesses.”

Highlighting Research on Rare Diseases

Speakers at the event include:

  • Brashear, who will discuss the family of diseases that she studies caused by the ATP1A3 mutation that causes rapid onset dystonia Parkinsonism and related conditions.
  • Nicholas J. Silvestri, MD, associate professor of neurology in the Jacobs School, who will discuss myasthenia gravis.
  • Beverly A. Schaefer, MD, clinical assistant professor of pediatrics in the Jacobs School and assistant professor of pediatrics at Roswell Park Comprehensive Cancer Center, who will discuss rare blood disorders.
  • Rabheh Abdul Aziz, MD, clinical associate professor of pediatrics in the Jacobs School, who will discuss Gaucher disease, scurvy and other conditions.
  • Jae W. Lee, PhD, professor of biological sciences in the UB College of Arts and Sciences, who will discuss FOXG1 syndrome, the rare disease that his daughter was born with and which he now studies full time.
  • Kristine Rath, MD, clinical instructor in the Department of Obstetrics and Gynecology at Yale School of Medicine, who will discuss the genetic disorders known as NF1, which affects one of her children.
  • Emma Kinloch, founder of Salivary Gland Cancer UK, who will discuss rare salivary gland cancers.   

“My goal is to spread awareness about rare diseases and research on them, and also to recognize that many of these patients are severely affected,” said Collins. “Even with the innovative diagnostic approaches employed by efforts like the U.K. 100,000 Genomes Project, it can take as long as six years on average for patients with rare diseases to be properly diagnosed. Their voices deserve to be heard.”