

Rare Disease Day at NIH 2023
This event will be held both in-person at the NIH main campus and virtually on Feb. 28, 2023.
The event aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments.
Tuesday, Feb. 28, 9:00 a.m. – 5:00 p.m. EST | #RDDNIH
Overview
Sponsored by the National Center for Advancing Translational Sciences (NCATS) and the National Institutes of Health (NIH) Clinical Center, Rare Disease Day at NIH will be held both in-person at the NIH main campus (Natcher Conference Center) and virtually on Tuesday, Feb. 28, 2023, from 9 a.m. to 5 p.m. EST. The event aims to raise awareness about rare diseases, the people they affect, and NIH collaborations that address scientific challenges and advance research for new treatments. The goals are to:
- Demonstrate the NIH commitment to helping people with rare diseases through research.
- Highlight NIH-supported rare diseases research and the development of diagnostics and treatments.
- Initiate a mutually beneficial dialogue among the rare diseases community.
- Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.
- Shine a spotlight on stories told by patients living with a rare disease, their families, and their communities.
Rare Disease Day at NIH seeks to bring together a broad audience including patients, patient advocates, caregivers, health care providers, researchers, trainees, students, industry representatives, and government staff. The event is free and open to the public.
This year’s event will feature panel discussions, rare diseases stories, in-person and virtual exhibits and scientific posters, and a virtual art exhibition. An event app will be available with engagement features and ways to connect with others.
Attendees are asked to register prior to attending in-person or viewing the livestream, and registration is required to use the event app. Attendees are also expected to exercise professionalism, consideration, and respect in your speech, postings, and other actions.
Learn more about the public health challenge of rare diseases — guest authored by NCATS director, Dr. Joni Rutter.
Attending In-Person?
Check-in/registration will open at 8:00 a.m. EST, followed by welcoming remarks at 9:00 a.m. and adjournment scheduled by 5:00 p.m. Before arriving at NIH, please review our tips for accessing the NIH main campus and other visitor information. Be sure to allow at least 45 minutes for passing through NIH security. The location on NIH main campus is Natcher Conference Center (Building 45), 9000 Rockville Pike, Bethesda, MD 20892.
Food and beverage options in the Natcher Conference Center are limited to vending machines only. Other options on campus include:
- Shuttle or walk to food service facilities in Buildings 10, 31, or 35.
- Same-day mobile orders by Eatify for pick up in Buildings 10, 31, or 35.
If you do not want your photo taken during the event, please notify staff at the registration desk.
Exhibits & Scientific Posters
Because Rare Disease Day at NIH is planned to be held in-person and virtually, exhibitors and poster-presenters may request physical space in Natcher Conference Center and/or a virtual profile in the event app. To sign up for an exhibit or poster, please download an exhibit request form and/or poster request form, and submit the completed form(s) to Ashley Cornett. You must register for Rare Disease Day at NIH before submitting. Exhibit and poster capacity in Natcher Conference Center is limited, so requests for in-person space will be assigned on a first-come, first-served basis.
If you previously applied and now are unable to participate, please let Ashley know.
COVID-19
Proof of COVID-19 vaccination is not required to attend Rare Disease Day at NIH; however, all participants, speakers, and staff are encouraged to complete their COVID-19 vaccination series and boosters (if eligible) before attending.
In the days leading up to the event, attendees should self-monitor for symptoms of illness. If you are experiencing any COVID-19 symptoms; test positive for COVID-19; or believe you have been exposed to a confirmed or suspected case of COVID-19, do not attend the event in person.
Precautions according to the information below should be followed depending on community COVID-19 levels. The most up-to-date community level may be found by selecting “Maryland” and “Montgomery County” on the CDC COVID-19 by County page.

If you do not have a mask, they will be available at registration/check-in. Hand sanitizer will also be provided.
Event App
The Rare Disease Day at NIH event app will allow participants to network and engage with other attendees, speakers, exhibitors, and poster authors. Available for both computers and mobile devices, attendees may use the app to:
- Submit questions and chat.
- Participate in exhibitor and poster presentation hours.
- Directly message or virtually meet with others.
- Personalize schedules and access the event's livestream.
- Tour the Beyond the Diagnosis art exhibition.
Partners in Planning
Planning committee members include representatives from:
- National Center for Advancing Translational Sciences (NCATS)
- NIH Clinical Center
- National Cancer Institute (NCI)
- National Heart, Lung, and Blood Institute (NHLBI)
- National Institute on Alcohol Abuse and Alcoholism (NIAAA)
- National Institute of Neurological Disorders and Stroke (NINDS)
- Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups (RDCRN-CPAG)
- U.S. Food and Drug Administration (FDA)
- The Children’s Inn at NIH
- EveryLife Foundation for Rare Diseases
- National Organization for Rare Disorders (NORD)
- United BioSource LLC (UBC)

Rare Diseases Are Not Rare!
Participants nationwide showcased their creativity for NCATS’ second Rare Diseases Are Not Rare! Challenge in 2020 to raise awareness of all rare diseases and the importance of research. NCATS selected 3 winners and 5 honorable mentions from an extraordinary gallery of submissions.
Agenda
Rare Disease Day at NIH Overview
Main Agenda
Feb 28 02:00PM–02:10PM UTC
https://events.ringcentral.com/cal/SUXvFz0jUPtgcDPMpGWs3lhg4UTCHosted virtually on RingCentral Events (link in the description)2023-02-28T14:00Z2023-02-28T14:10ZRare Disease Day at NIH OverviewarcVMTbPfzDtviwEomMj51030Welcoming Remarks
Main Agenda
Feb 28 02:10PM–02:20PM UTC
https://events.ringcentral.com/cal/RzPJX1Rrf998yH9nw787qZPN2UTCHosted virtually on RingCentral Events (link in the description)2023-02-28T14:10Z2023-02-28T14:20ZWelcoming RemarksarcVMTbPfzDtviwEomMj51030NIH Leadership Remarks via Video
Main Agenda
Feb 28 02:20PM–02:30PM UTC
https://events.ringcentral.com/cal/mR4NfgXfUBRcoGyOD986dGyvQUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T14:20Z2023-02-28T14:30ZNIH Leadership Remarks via VideoarcVMTbPfzDtviwEomMj51030Rare Disease Congressional Caucus Remarks via Video
Main Agenda
Feb 28 02:30PM–02:50PM UTC
https://events.ringcentral.com/cal/rOipO1FRELq3abT49Z2zq14lpUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T14:30Z2023-02-28T14:50ZRare Disease Congressional Caucus Remarks via VideoarcVMTbPfzDtviwEomMj51030Session 1: NCATS Rare Diseases Programs and Resources
- Overview
- Genetic and Rare Diseases (GARD) Information Center
- RARe-SOURCE: Integrated Bioinformatics Resource for Rare Diseases
- Rare Disease Alert System
- Platform Vector Gene Therapy (PaVe-GT) Program
+1Main Agenda
Feb 28 02:50PM–03:50PM UTC
https://events.ringcentral.com/cal/U5CZKTSlAviVfJOWkdgu9p9JgUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T14:50Z2023-02-28T15:50ZSession 1: NCATS Rare Diseases Programs and ResourcesarcVMTbPfzDtviwEomMj51030The NIH Clinical Center’s Resources for Clinical Trials
Main Agenda
Feb 28 03:50PM–04:05PM UTC
https://events.ringcentral.com/cal/5EPPfFob4UCsBDMa5ZQ57nFWdUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T15:50Z2023-02-28T16:05ZThe NIH Clinical Center’s Resources for Clinical TrialsarcVMTbPfzDtviwEomMj51030The Children’s Inn and Resources for Patients and Families
Main Agenda
Feb 28 04:05PM–04:20PM UTC
https://events.ringcentral.com/cal/PVD6Fn4y2sn3BQrWNW1xeWeMYUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T16:05Z2023-02-28T16:20ZThe Children’s Inn and Resources for Patients and FamiliesarcVMTbPfzDtviwEomMj51030Break
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
Break
Feb 28 04:20PM–04:40PM UTC
https://events.ringcentral.com/cal/zdhy026OkrXx9wuOLRuJPG7UEUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T16:20Z2023-02-28T16:40ZBreakarcVMTbPfzDtviwEomMj51030Session 2: Meeting the Needs of Adolescent and Young Adult (AYA) Rare Disease Patients
AYAs with rare diseases face unique challenges, especially if they are diagnosed during their adolescent years. Adolescents with rare diseases, including cancer, do not neatly fit into either pediatric or adult care settings. This session will highlight work being done by AYA cancer advocacy groups and researchers as a model to improve the experience for adolescents facing cancer or other rare diseases.
Main Agenda
Feb 28 04:40PM–05:20PM UTC
https://events.ringcentral.com/cal/YJ4t1bgxNFYFDh4ih1v6vE6lYUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T16:40Z2023-02-28T17:20ZSession 2: Meeting the Needs of Adolescent and Young Adult (AYA) Rare Disease PatientsarcVMTbPfzDtviwEomMj51030Rare Story #1: Becoming the Captain — My Experience Transitioning From Pediatric to Adult Health Care
Main Agenda
Feb 28 05:20PM–05:35PM UTC
https://events.ringcentral.com/cal/lhgCgPD45XDok3gjrLYctObabUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T17:20Z2023-02-28T17:35ZRare Story #1: Becoming the Captain — My Experience Transitioning From Pediatric to Adult Health CarearcVMTbPfzDtviwEomMj51030Rare Story #2: Care Transition Challenges for Young Adults With Rare Diseases — A Patient and Provider Perspective
Main Agenda
Feb 28 05:35PM–05:50PM UTC
https://events.ringcentral.com/cal/EjJQsQTpNmImN0wgewheNBAtbUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T17:35Z2023-02-28T17:50ZRare Story #2: Care Transition Challenges for Young Adults With Rare Diseases — A Patient and Provider PerspectivearcVMTbPfzDtviwEomMj51030Lunch (on your own)
- Food and Beverage Options
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
Break
Feb 28 05:50PM–06:30PM UTC
https://events.ringcentral.com/cal/eOVZpqjFYOfNGUVpJFpQSFASlUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T17:50Z2023-02-28T18:30ZLunch (on your own)arcVMTbPfzDtviwEomMj51030Session 3: Genetics, Gene-Targeted Therapies, and Diversity, Equity, and Inclusion
Genetic technologies and gene-targeted therapies hold immense promise for the diagnosis and treatment of rare diseases, but they also have the potential to become a new frontier for inequity and health disparities. In addition to the common drivers of inequity and health disparities found in other fields, a number of social, economic and technical issues are unique to or disproportionately affect gene-targeted therapies. The speakers on this panel will discuss obstacles to realizing the benefits of gene-targeted technologies in an equitable way across diverse groups and the efforts required to prevent inequity and health disparities in this relatively new field.
Main Agenda
Feb 28 06:30PM–07:30PM UTC
https://events.ringcentral.com/cal/HtZUKCMC4fmbPJW9hz1M9gTgQUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T18:30Z2023-02-28T19:30ZSession 3: Genetics, Gene-Targeted Therapies, and Diversity, Equity, and InclusionarcVMTbPfzDtviwEomMj51030Rare Story #3: Where There Is Research, There Is Hope
Main Agenda
Feb 28 07:30PM–07:50PM UTC
https://events.ringcentral.com/cal/gd2tvNJ7dnPNE0QXV2KSQ3NlKUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T19:30Z2023-02-28T19:50ZRare Story #3: Where There Is Research, There Is HopearcVMTbPfzDtviwEomMj51030Break
- Exhibits and Scientific Posters
- Art Exhibition
- Networking
Break
Feb 28 07:50PM–08:10PM UTC
https://events.ringcentral.com/cal/izrh0YXffgZUoa3q5I1eUzwFgUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T19:50Z2023-02-28T20:10ZBreakarcVMTbPfzDtviwEomMj51030Rare Story #4: Building Your Preclinical Toolbox — The Power of Your Patient Community
Main Agenda
Feb 28 08:10PM–08:25PM UTC
https://events.ringcentral.com/cal/66xOpaNekDGg7M5QBpjvuhscTUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T20:10Z2023-02-28T20:25ZRare Story #4: Building Your Preclinical Toolbox — The Power of Your Patient CommunityarcVMTbPfzDtviwEomMj51030Rare Story #5: Creating Your Natural History Study
Main Agenda
Feb 28 08:25PM–08:40PM UTC
https://events.ringcentral.com/cal/Yh9lY1zVJIJjA1Cs3W2t9p0MvUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T20:25Z2023-02-28T20:40ZRare Story #5: Creating Your Natural History StudyarcVMTbPfzDtviwEomMj51030Rare Story #6: Scientific and Patient Journey to the First U.S. Food and Drug Administration–Approved Drugs for Two Rare Eosinophilic Diseases
Main Agenda
Feb 28 08:40PM–09:00PM UTC
https://events.ringcentral.com/cal/8RoOxKexr21D40TcQL8F6Jpg5UTCHosted virtually on RingCentral Events (link in the description)2023-02-28T20:40Z2023-02-28T21:00ZRare Story #6: Scientific and Patient Journey to the First U.S. Food and Drug Administration–Approved Drugs for Two Rare Eosinophilic DiseasesarcVMTbPfzDtviwEomMj51030Session 4: Rare Diseases Therapeutics and the Role of Advocacy and Industry Collaborations
This session will explore the spectrum of advocacy–industry collaborations across the life cycle of therapeutic development and share how patient advocacy can play an important role in research efforts. Examples include such efforts as spurring new therapeutic development, improving the efficiency of clinical development, increasing engagement and participation in clinical trials, informing the design of clinical trials, and assessing the meaningfulness of clinical outcomes for regulatory purposes. Panelists from patient advocacy and industry will encourage participation in research and inspire hope for future treatments in more rare diseases.
+1Main Agenda
Feb 28 09:00PM–09:45PM UTC
https://events.ringcentral.com/cal/xbiF37RWhrKcHSX0sC7GQjt1FUTCHosted virtually on RingCentral Events (link in the description)2023-02-28T21:00Z2023-02-28T21:45ZSession 4: Rare Diseases Therapeutics and the Role of Advocacy and Industry CollaborationsarcVMTbPfzDtviwEomMj51030Closing Remarks
Main Agenda
Feb 28 09:45PM–10:00PM UTC
https://events.ringcentral.com/cal/FEcsyjb8VwwR8lPBzS3i5ex22UTCHosted virtually on RingCentral Events (link in the description)2023-02-28T21:45Z2023-02-28T22:00ZClosing RemarksarcVMTbPfzDtviwEomMj51030
Speakers

Lawrence A. Tabak, D.D.S., Ph.D.
Performing the Duties of the NIH Director

Sen. Roger F. Wicker (R-MS)
Senate Co-Chair, Rare Disease Congressional Caucus

Rep. Gus M. Bilirakis (R-FL)
House Co-Chair, Rare Disease Congressional Caucus

Rep. Doris O. Matsui
House Co-Chair, Rare Disease Congressional Caucus

Eric W.K. Sid, M.D., M.H.A.
Program Officer, Division of Rare Diseases Research Innovation (DRDRI), NCATS, NIH

Elizabeth A. Ottinger, Ph.D.
Acting Director, Therapeutic Development Branch (TDB), Division of Preclinical Innovation (DPI), NCATS, NIH

Uma Mudunuri, M.S.
Director, Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research

Qian Zhu, Ph.D.
Team Lead, Rare Diseases Translational Research, Informatics Core, Division of Preclinical Innovation (DPI), NCATS, NIH

Richa Madan Lomash, Ph.D.
Scientific Project Manager, Therapeutic Development Branch (TDB), Division of Preclinical Innovation (DPI), NCATS, NIH

Nikita Curry, M.H.A.
Supervisor, Office of Patient Recruitment, Clinical Center, NIH

Aisha Dubose Campbell
Director, Resident Services and Family Programming, The Children’s Inn at NIH

Abby Sandler, Ph.D.
Executive Director, MyPART, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (NCI), NIH

Hilary Gan, M.A.
Director, Hospital Programs and Services, Teen Cancer America, Inc.

Alison Silberman
CEO, Stupid Cancer, Inc.

Lori Wiener, Ph.D., DCSW, LCSW-C
Senior Associate Scientist, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (NCI), NIH

Abbey Hauser
Young Adult Rare Disease Advocate

Cary O. Harding, M.D.
Principal Investigator, PHEFREE Consortium, RDCRN; Professor, Molecular and Medical Genetics, School of Medicine, OHSU

Brittany M. Holmes, M.S.N., APRN, FNP-BC
Rare Disease Patient; Advisor, PHEFREE Consortium, RDCRN; Metabolism Nurse Practitioner, Boston Children's Hospital

Deanna Portero
Management Analyst, Division of Rare Diseases Research Innovation (DRDRI), NCATS, NIH

Tshaka J. Cunningham, Ph.D.
Executive Director, Faith-Based Genetic Research Institute; Program Director, Future Kings; CSO, Polaris Genomics

Shengdar Q. Tsai, Ph.D.
Associate Member, St. Jude Children's Research Hospital; Co-Chair, Steering Committee, NIH SCGE Program

Mario A. Estevez
RD Caregiver; Board Member and International Ambassador, Project Alive; Organizer and Trainer, Racial Equity Institute

Marcela A. Ferrada, M.D.
Staff Clinician, Vasculitis Translational Research Program, NIAMS, NIH

Michael Linn
Director and Vice Chair, Relapsing Polychondritis Foundation

Pangkong Fox, Ph.D.
Science Engagement Director, CACNA1A Foundation, Inc.; Rare Disease Caregiver

Nasha Fitter, M.B.A.
RD Caregiver; Co-Founder and CEO, FOXG1 Research Foundation; VP, Real-World Evidence and Ciitizen Platform, Invitae

Marc E. Rothenberg, M.D., Ph.D.
PI, CEGIR, RDCRN; Director, Cincinnati Children’s Hospital Medical Center; Professor, University of Cincinnati

Ellyn Kodroff
CPAG Representative, CEGIR, RDCRN; President and Founder, Campaign Urging Research for Eosinophilic Disease (CURED)

Shazia Ahmad
Senior Director and Head, Patient and Physician Services, United BioSource LLC (UBC)

Sharon J. King
Manager, Advocacy and Community Engagement, Aldevron

Sandra Abrevaya, J.D.
Rare Disease Caregiver; Co-Founder, I AM ALS

Brian Wallach, J.D.
Rare Disease Patient; Co-Founder, I AM ALS

Kristen Wheeden, M.B.A.
Rare Disease Caregiver; CPAG Representative, Porphyrias Consortium, RDCRN; President, United Porphyrias Association

Jennifer Beck
Erythropoietic Protoporphyria Patient and Advocate

Ainslie Tisdale
Program Analyst, Division of Rare Diseases Research Innovation (DRDRI), NCATS, NIH