Rare Disease Celebration

Rare Disease Day Event at Yale

Hosted by Yale NORD Center of Excellence and Genetics Department

Friday, February 21

1 pm – 5 pm

Greenberg Conference Center

391 Prospect St, New Haven, CT 06511

• Learn from leading specialists. Share perspectives and expectations.

• Chat and connect with the rare community.

RSVP and ask for all the details, email us: nord@yale.edu

Activities for kids are available!

AGENDA:

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