Yale School of Medicine, the Department of Genetics, Yale New Haven Health, and the National Organization for Rare Disorders are hosting a Rare Disease Celebration on Friday, Feb. 21 from 1 – 5 p.m. at the Greenberg Conference Center.

The agenda and further details are below:

1:00 to 1:15 p.m. | Opening Remarks

Michele Spencer-Manzon, MD
Associate Professor of Genetics and Pediatrics; Associate Chief of Clinical Genetics Operations

1:15 to 2:15 p.m.| Keynote Lecture. Fetal Therapy for Rare Diseases
Marie E. Egan, MD and Dr. David Stitelman, MD
MEE - Professor of Pediatrics (Respiratory) and Cellular And Molecular Physiology
DS- Associate Professor of Surgery (Pediatrics)

2:15 to 3:00 p.m. | Expert Talks
2:15-2:30 |Yale as part of the Undiagnosed Diseases Network (UDN)
Yong-Hui Jiang, MD, PhD
Professor and Chief of Medical Genetics; Vice Chair of Genetics

2:30-2:45.| The Yale Hemophilia Treatment Center
Jackie Bottacari, LCSW
Clinical social worker at Yale Center for Bleeding and Clotting Disorders in CT

2:45-3:00 | CT Rare Disease Advocacy Council (RDAC)
Lesley Bennett
Patient advocate, CT RDAC
Volunteer Ambassador, NORD Connecticut Rare Action Network

3:00-3:15 p.m. | BREAK

3:15-4:15 p.m. | Round tables
Three breakout rooms, organized by age group. The round tables will discuss patient resources available at Yale and explore ways the Yale NORD program can enhance its support for the rare disease community.
Mediators TBD

4:15-5:00 p.m. | Reception

Please RSVP via email.