Quinnipiac University’s Frank H. Netter School of Medicine to host its annual Rare Disease Day symposium on Feb. 28

Rare Disease Day is a global event that serves to raise awareness of over 7,000 identified rare diseases.

The Frank H. Netter MD School of Medicine at Quinnipiac University will host its annual Rare Disease Day symposium from 1-6 p.m. on Friday, Feb. 28, in the Center for Medicine, Nursing and Health Sciences, MNH 101, at Quinnipiac, 370 Bassett Rd. 

Rare Disease Day is a global event that serves to raise awareness of over 7,000 identified rare diseases. Although each disease on its own is rare, together they affect approximately 1 in 10 Americans. The symposium, under the direction of Quinnipiac faculty engaged in rare disease scholarship and advocacy, serves as an opportunity for patients, family members, and researchers to share their stories and promote education, awareness and advocacy. It is also an accredited continuing medical education (CME) activity for physicians.

“Rare Disease Day is about learning, connecting, collaboration and most importantly, giving a voice to those that are frequently not heard,” said Allison Cammisa, a second-year medical student and student co-chair of the event. “Growing up, I admired how my older sister handled her rare disease with courage. It is because of her resilience, and that of so many others, that I am passionate to be a part of the wonderful team that brings this event to Quinnipiac.”

This year’s symposium will feature two keynote addresses. Steven and Kimberly Gentile of Cheshire will present the first one, titled “Our Journey with Justin: Embracing Life with a Rare Disease” at 1 p.m. They will discuss their son’s journey with Hunter syndrome, a rare inherited enzyme deficiency resulting in the progressive accumulation of toxic substances in cells. This affects appearance, organ function and intellectual and physical abilities.

Dr. David Alan Sweetser, assistant professor of pediatrics at Harvard Medical School, will give the second address, “Advances in Our Understanding and Care for Individuals with Pitt-Hopkins Syndrome,” at 2 p.m. Pitt-Hopkins Syndrome is a genetic disorder characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures and distinctive facial features.

The remainder of the event will feature a rare disease patient and caretaker panel, oral presentations, and a closing reception including an art exhibition, poster session, organizational networking, and presentation of a young investigator award.

“Rare Disease Day is incredibly important to our community and to communities all around the world seeking to educate current and future clinicians and inspiring change in clinical care, research and policy,” said Paige Orlofsky, a second-year medical student and student co-chair of the event. “This year’s symposium will be Quinnipiac’s best one yet, and I look forward to my part in ensuring that this tradition continues for many years to come.”  

This event is free and open to the public, but registration is required. To register, click here. For more information, email [email protected] or call 203-582-8652.

Posted by Chris

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