Emory Human Genetics presents a series of impactful events marking Rare Disease Day 2025

Emory's Department of Human Genetics and the Division of Medical Genetics will present a series of interactive events in honor of Rare Disease Day, an annual, worldwide observance of the challenges faced by people living with rare diseases and the medical professionals dedicated to improving their lives. These events will bring attention to conditions that often receive minimal mainstream attention, highlight efforts to improve policy and access to needed treatments, and create an environment where patients, caregivers, and researchers can share knowledge and experiences.
The Division of Medical Genetics, led by Michael J. Gambello, MD, PhD, has a long history of commitment to rare diseases. The division's clinical program is a National Organization of Rare Diseases (NORD) Center of Excellence and provides patients with high quality care including diagnosis and management of complex rare disease. Emory Human Genetics also sponsors a Genetic Clinical Trial Center, which currently coordinates participation in more than 20 clinical trials for rare diseases, including both enzyme replacement therapies and gene therapy clinical trials.
While February 28 is Rare Disease Day, Emory's observance will span two additional days, and will include a Kickoff Table Event, the Premiere of The Life You're Given and Q&A, and a Virtual Rare Disease Day Symposium.
Rare Disease Day Kickoff Table Event
February 27, 2025 | 9:00AM-12:00PM for industry partners, 12:00PM-3:00PM for patients and families | Emory University Hospital, the pedestrian bridge between Emory Clinic buildings A and B | Free Admission
Directions and parking for Emory University Hospital
Event Hashtags: #EmoryRare2025 #Rarediseasesay2025 #NORD
This awareness event will feature tables and booths hosted by members of the Emory Human Genetics team. Visitors will be able to engage with these experts on topics and issues involving genetic testing, counseling, and advances in treatment. A kids' corner will be provided with stickers, badges, and coloring pages. Zebra-themed freebies will also be available — the zebra is the official symbol of rare diseases in the U.S., its black and white stripes representing the uniqueness of each individual and the commonality of the rare disease community.
Premiere of The Life You're Given and Q&A
February 28, 2025 | 3:30PM-6:00PM | Health Sciences Research Building Auditorium (1760 Haygood Dr NE, Atlanta, GA 30322) | Free Admission
Reserve a spot, directions, parking information, Zoom link
Event Hashtags: #EmoryRare2025 #Rarediseasesay2025 #NORD
Sophie was born with Prader-Willi syndrome (PWS), a rare condition that affects roughly one in every 15,000 births. Sophie's parents are filmmakers Jay Coggeshall and Susan Henoch, and they shot The Life You’re Given over 35 years, documenting the human side of this statistical rarity. The film offers an intimate and honest portrait of the struggles and triumphs associated with raising a daughter with PWS. Emory Human Genetics, members of whom are conducting clinical trials dedicated to better understanding and treating PWS, is proud to present the premiere of this powerful and inspiring film. Audience members are invited to participate in a Q&A with the filmmakers after the screening. Light snacks will be available.
Virtual Rare Disease Day Symposium
March 7, 2025 | 9:00AM-12:30PM | Hybrid Attendance Option: Whitehead Biomedical Research Building, Suite 300 or Zoom | Free Admission
Event Hashtags: #EmoryRare2025 #Rarediseasesay2025 #NORD
Presentations
- "Distinguishing Between Diseases of Impaired Bone Mineralization"
9:00AM-10:00AM
Presented by Steven M. Petak, MD, JD MACE, FACP, Associate Clinical Professor, Endocrinology, Weil-Cornell Medical College, Adjunct Texas A&M Medical School, Houston, TX
A Q&A session will follow the lecture, sponsored by Kyowa Kirin - "History of Rare Disease Awareness"
10:10AM-10:40AM
Presented by Michael J. Gambello, MD, PhD, Professor and Vice Chair of Human Genetics, Section Chief of the Division of Medical Genetics, Emory University School of Medicine - NORD spokesperson
10:50AM-11:20AM - "From Compassion to Action: A Rare Disease Nurse's Mission"
11:30AM-12:00PM
Presented by Beth Nguyen, RN, Chairperson of the Georgia RDAC; Managing Director, Founding Partner, Rare STRIDES
Nurse Nguyen will share how her personal and rare journey inspired action and influenced her membership in the RDAC, an organization charged with keeping the Georgia General Assembly and other state entities informed about the needs of Georgia residents living with rare diseases. The RDAC also evaluate policies and advocate for change when necessary.
Sponsorship
Confirmed Sponsors/Partners: Kyowa Kirin, Georgia RDAC, NORD, Department of Human Genetics at Emory University
Companies interested in becoming sponors of Rare Disease Day at Emory should fill-out this writeable PDF form and email it to Dr. Rossana Sanchez Russo by February 21st to allow time for processing and printing.
Gifts and Donations
Please consider making a gift or donation to the Department of Human Genetics so we may continue our vital research, education, clinical services, and community programs such as Rare Disease Day.
Visit Support Our Programs for more information, and thank you.