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Frank H Netter MD School of Medicine Rare Disease Day Symposium 2020

February 28 @ 1:00 pm - 5:00 pm

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. Since 2015, the Frank H. Netter MD School of Medicine at Quinnipiac University has hosted Rare Disease Day, providing an opportunity for patients, family members and researchers to share their stories and promote education, awareness, and advocacy. The event has also become a powerful learning opportunity for students and professionals regarding the unique needs of individuals affected by rare disorders.

The Rare Disease Day Symposium keynote speakers will be Steven and Kimberly Gentile, local Connecticut parents as well as advocates for individuals living with rare diseases. Their son Justin, now 17 years old, was diagnosed as a child with a rare inherited multisystem disorder called Hunter syndrome. Since Justin’s diagnosis, Steven and Kimberly have worked tirelessly to increase awareness of the medical and social challenges faced by patients and families with Hunter syndrome and other rare diseases. Their collaborative talk will engage those in attendance with a deeply personal and inspiring journey.

The programming also includes an additional clinical research keynote presentation by Dr. David Alan Sweetser from Massachusetts General Hospital for Children on the “Advances in our understanding and care for individuals with Pitt Hopkins Syndrome.” This will be followed by a patient panel, where attendees will be able to listen to the experiences of caregivers or individuals living with a rare disease. The symposium will conclude with scientific oral presentations, a poster session and networking hour.

Rare Disease Day has historically provided a tremendous opportunity for education as well as a chance to reestablish our sense of compassion and appreciation for the needs of others. We hope that you save the date for this year’s symposium. This year’s program is anticipated to run from 1:00pm until 5:00pm, with the Networking session concluding at 6:00pm.


February 28
1:00 pm - 5:00 pm
Event Category:


Frank H Netter MD School of Medicine-Quinnipiac University
370 Bassett Road
North Haven, CT United States
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