Media Advisory: “Diagnose Earlier, Treat Smarter” is focus of UB’s annual Rare Disease Day for providers, patients and community partners

BUFFALO, N.Y. – The University at Buffalo will host its annual Rare Disease Day event from 1-5 p.m. on Friday, Feb. 27, in the Jacobs School of Medicine and Biomedical Sciences, 955 Main St., Buffalo.

Co-hosted by the Jacobs School and the School of Pharmacy and Pharmaceutical Sciences, the event, titled “Diagnose Earlier, Treat Smarter: Innovations in Rare Disease Patient Care,” is free and open to the public. It brings together students, clinicians, researchers and advocates to raise awareness about rare diseases through education, collaboration and community engagement.

Participants can register online.

There are more than 7,000 known rare diseases affecting approximately 300 million people worldwide. 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.

“The point of this conference is to bring together researchers, patients, advocates, students from multiple UB schools and clinicians who treat patients with rare diseases,” says Lindsey Alico, director of the Genetics Counseling Graduate Program in the Jacobs School and clinical assistant professor of biochemistry.

The event organizers are Alico; Meagan L. Collins Hutchinson, a trainee in the MD-PhD Program who launched UB’s first Rare Disease Day event in 2023; and Mary Riedy, PharmD, Margaret Hempling McGlynn Endowed Chair in Clinical Pharmacy and clinical assistant professor of pharmacy practice in the School of Pharmacy and Pharmaceutical Sciences. Riedy works with a multidisciplinary team to provide treatment recommendations and monitoring for patients with rare genetic and metabolic disorders. Assisting the effort are Linda K. Ramsey, an administrator in the Department of Pediatrics, and Desiree Herman, a PharmD candidate.

In addition to the educational sessions, there will be a dedicated opportunity for attendees to network with researchers, patient advocacy groups, clinicians and other patients. Two attendees at last year’s conference discovered they had the same rare disease, a joyful and unique experience for both of them.

How UB research led to a clinical trial

Soo-Kyung Lee, PhD, Empire Innovation Professor and Om P. Bahl Endowed Professor in the Department of Biological Sciences in the College of Arts and Sciences, will talk about her work studying the gene that causes FOXG1 syndrome and developing a drug to treat it, which the Food and Drug Administration has now cleared to start a clinical trial.

Lee and her husband and scientific partner Jae W. Lee, PhD, professor of biological sciences at UB, are the parents of a child with FOXG1 syndrome, a rare neurodevelopmental disorder marked by cognitive and physical disabilities and epilepsy.

In another session, Sara Gartland, the mother of a baby with cystic fibrosis, will talk about her experience with a drug she was recommended to take while pregnant.  Typically prescribed for children age 2 and older and adults with CF, the drug has been found in some babies to successfully treat in utero meconium ileus, a serious type of small bowel obstruction often requiring surgery that occurs in 20% of babies with CF. She took the drug and her baby did not require surgery for meconium ileus.

“The child is also now pancreatic sufficient, meaning he doesn’t have to take pancreatic enzymes, which most babies with cystic fibrosis take with each meal,” says Danielle Goetz, MD, clinical associate professor of pediatrics, who will also speak at Rare Disease Day. “The child’s growth has been phenomenal.”

The importance of research

Goetz, who is the baby’s pediatric pulmonologist and a physician with UBMD Pediatrics, directs the Cystic Fibrosis Center at Golisano Children’s Hospital of Buffalo. She says this case is an excellent example of why caring for patients with rare diseases means providers must be involved in research; she notes that over the past several decades, researchers at UB and GCH Buffalo have played key roles in developing game-changing discoveries in improving the lives of patients with CF.

“Being at the forefront of knowledge is critical,” she says, “You have to go to the national meetings, find these things out, participate in research studies and then bring the treatments back to benefit our patients.”

Norah S. Lincoff, MD, professor of neurology and physician with UBMD Neurology, will discuss Susac syndrome, a rare neuro-ophthalmological condition in which the immune system mistakenly attacks cells in the brain, eyes and inner ear. A patient with the condition will also be a speaker.

Other sessions will focus on pediatric leukemia, mitochondrial disorders and the expansion of genetic testing. Attendees will have a chance to win raffle gifts donated by UB and the Buffalo Zoo.

Additional information on the event and insight into UB’s long history studying rare diseases is available on the latest edition of the UB Medicine podcast. In this episode, Allison Brashear, MD, vice president for health sciences and Jacobs School dean, interviews Mark Hicar, MD, PhD, associate professor of pediatrics in the Jacobs School and a physician with UBMD Pediatrics and Collins Hutchinson.