Overview&nbsp; Sponsored by the&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ncats.nih.gov">National Center for Advancing Translational Sciences (NCATS)</a> and the&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://clinicalcenter.nih.gov">National Institutes of Health (NIH) Clinical Center</a>, <a target="_blank" rel="noopener noreferrer" href="https://ncats.nih.gov/rdd">Rare Disease Day at NIH</a>&nbsp;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:&nbsp;<ul><li>Demonstrate the NIH commitment to helping people with rare diseases through research.&nbsp;</li><li>Highlight NIH-supported rare diseases research and the development of diagnostics and treatments.&nbsp;</li><li>Initiate a mutually beneficial dialogue among the rare diseases community.&nbsp;</li><li>Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.&nbsp;</li><li>Shine a spotlight on stories told by patients living with a rare disease, their families, and their communities.&nbsp;</li></ul>This year’s event will feature panel discussions, rare diseases stories, in-person and virtual exhibits and scientific posters. An&nbsp;event app will be available with engagement features and ways to connect with others. 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. Attendees are asked to&nbsp;register prior to attending in-person or viewing the livestream, and registration is&nbsp;required&nbsp;to use the event app (see below for more information). Learn more about the <a target="_blank" rel="noopener noreferrer" href="https://directorsblog.nih.gov/2023/01/24/a-rare-public-health-challenge">public health challenge of rare diseases</a> — guest authored by NCATS director, Dr. Joni Rutter.Food &amp; Beverage Food and beverage in the Natcher Conference Center is limited to vending machines only. Other options on campus include:<ul><li><a target="_blank" rel="noopener noreferrer" href="https://www.ors.od.nih.gov/pes/dats/nihshuttleservices/Pages/shuttle.aspx">Shuttle</a> or walk to food service&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ors.od.nih.gov/pes/dats/food/Pages/index.aspx">facilities</a> in Buildings 10, 31, or 35.</li><li>Pre-order <a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Fresh_Fork.pdf">boxed lunches/salads</a> by the Fresh Fork for delivery to the Natcher Conference Center; orders due by 3:00 p.m. EST on Thursday, Feb. 23.</li><li>Same-day mobile orders by&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ors.od.nih.gov/pes/dats/food/Documents/EatifyFlyer.pdf">Eatify</a> for pick up in Buildings 10, 31, or 35.</li></ul>Exhibits &amp; 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 <a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Exhibit_Request_Form.pdf">exhibit request form</a> and/or&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Poster_Request_Form.pdf">poster request form</a>, and submit the completed form(s) to&nbsp;<a href="mailto:ashley.cornett@icf.com?subject=RDD@NIH%202023:%20Exhibit/Poster">Ashley Cornett</a>. You&nbsp;must&nbsp;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.&nbsp; If you previously applied and now are unable to participate, please let&nbsp;<a href="mailto:ashley.cornett@icf.com?subject=RDD@NIH%202023:%20Exhibit/Poster">Ashley</a> 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 <a target="_blank" rel="noopener noreferrer" href="https://www.cdc.gov/coronavirus/2019-ncov/symptoms-testing/symptoms.html">COVID-19 symptoms</a>; 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 &nbsp;may be found by selecting “Maryland” and “Montgomery County” on the <a target="_blank" rel="noopener noreferrer" href="https://www.cdc.gov/coronavirus/2019-ncov/your-health/covid-by-county.html">CDC COVID-19 by County</a> page.<figure class="image image-style-align-center image_resized" style="width:75%;"><img src="https://hopin.imgix.net/events/wysiwyg/000/391/896/original/95348d23-ae19-4498-a09e-37860b66e9c6.png?ixlib=rails-4.1.0&amp;s=f4e28af30883fb12c0ddc773dbd1a4d7"></figure>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,&nbsp;attendees may use the&nbsp;app to:<ul><li>Submit questions and chat.</li><li>Participate in exhibitor and poster presentation hours.</li><li>Directly message or virtually meet with others.</li><li>Personalize schedules and access the event's livestream.</li><li>Tour the Beyond the Diagnosis <a target="_blank" rel="noopener noreferrer" href="https://art.kunstmatrix.com/apps/artspaces/?external=true&amp;uid=40272&amp;exhibition=11170245">art exhibition</a>.</li></ul>Partners in Planning Planning committee members include representatives from:<ul><li>National Center for Advancing Translational Sciences (NCATS)</li><li>NIH Clinical Center</li><li>National Cancer Institute (NCI)</li><li>National Heart, Lung, and Blood Institute (NHLBI)</li><li>National Institute on Alcohol Abuse and Alcoholism (NIAAA)</li><li>National Institute of Neurological Disorders and Stroke (NINDS)</li><li>Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups (RDCRN-CPAG)</li><li>U.S. Food and Drug Administration (FDA)</li><li>The Children’s Inn at NIH</li><li>EveryLife Foundation for Rare Diseases</li><li>National Organization for Rare Disorders (NORD)</li><li>United BioSource LLC (UBC)</li></ul>

Rare Disease Day at NIH 2023

NIH NCATS & Clinical Center

Erythropoietic Protoporphyria Patient and Advocate

Jennifer Beck

CEO, Clinical Center, NIH

James K. Gilman, M.D.

Program Officer, Division of Rare Diseases Research Innovation (DRDRI), NCATS, NIH

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

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&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Visitor_Information.pdf">tips for accessing the NIH main campus and other visitor information</a>. 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:<ul><li><a target="_blank" rel="noopener noreferrer" href="https://www.ors.od.nih.gov/pes/dats/nihshuttleservices/Pages/shuttle.aspx">Shuttle</a> or walk to food service&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ors.od.nih.gov/pes/dats/food/Pages/index.aspx">facilities</a> in Buildings 10, 31, or 35.</li><li>Same-day mobile orders by&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ors.od.nih.gov/pes/dats/food/Documents/EatifyFlyer.pdf">Eatify</a> for pick up in Buildings 10, 31, or 35.</li></ul>If you do not want your photo taken during the event, please notify staff at the registration desk.&nbsp;

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

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

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

<h5 style="text-align:center;">Tuesday, Feb. 28, 9:00 a.m. – 5:00 p.m. EST &nbsp;| &nbsp;#RDDNIH</h5>

Director and Vice Chair, Relapsing Polychondritis Foundation

Michael Linn

Acting Director, Therapeutic Development Branch (TDB), Division of Preclinical Innovation (DPI), NCATS, NIH

Science Engagement Director, CACNA1A Foundation, Inc.; Rare Disease Caregiver

Pangkong Fox, Ph.D.

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 <a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Exhibit_Request_Form.pdf">exhibit request form</a> and/or&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://events-support.com/Documents/NIH_RDD_2023_Poster_Request_Form.pdf">poster request form</a>, and submit the completed form(s) to&nbsp;<a href="mailto:ashley.cornett@icf.com?subject=RDD@NIH%202023:%20Exhibit/Poster">Ashley Cornett</a>. You&nbsp;must&nbsp;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&nbsp;<a href="mailto:ashley.cornett@icf.com?subject=RDD@NIH%202023:%20Exhibit/Poster">Ashley</a> know.

Staff Clinician, Vasculitis Translational Research Program, NIAMS, NIH

Marcela A. Ferrada, M.D.

<h4 style="text-align:center;">Attending In-Person?</h4>

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

Ellyn Kodroff

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

Shengdar Q. Tsai, Ph.D.

Rare Disease Caregiver; Co-Founder, I AM ALS

Sandra Abrevaya, J.D.

Elizabeth A. Ottinger, Ph.D.

<h4 style="text-align:center;">Exhibits &amp; Scientific Posters</h4>

Young Adult Rare Disease Advocate

Abbey Hauser

Rare Disease Caregiver; CPAG Representative, Porphyrias Consortium, RDCRN; President, United Porphyrias Association

Kristen Wheeden, M.B.A.

<h4 style="text-align:center;">Event App</h4>

Rare Disease Patient; Co-Founder, I AM ALS

Director, Hospital Programs and Services, Teen Cancer America, Inc.

Hilary Gan, M.A.

Senate Co-Chair, Rare Disease Congressional Caucus

Performing the Duties of the NIH Director

Executive Director, MyPART, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (NCI), NIH

Abby Sandler, Ph.D.

<h4 style="text-align:center;">COVID-19</h4>

Sponsored by the&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ncats.nih.gov/">National Center&nbsp;for Advancing Translational Sciences (NCATS)</a>&nbsp;and the&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://clinicalcenter.nih.gov/">National Institutes of Health (NIH)&nbsp;Clinical Center</a>,&nbsp;<a target="_blank" rel="noopener noreferrer" href="https://ncats.nih.gov/rdd">Rare Disease Day at NIH</a>&nbsp;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:&nbsp;<ul><li>Demonstrate the NIH commitment to helping people with rare diseases through research.&nbsp;</li><li>Highlight NIH-supported rare diseases research and the development of diagnostics and treatments.&nbsp;</li><li>Initiate a mutually beneficial dialogue among the rare diseases community.&nbsp;</li><li>Exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts.&nbsp;</li><li>Shine a spotlight on stories told by patients living with a rare disease, their families, and their communities.&nbsp;</li></ul>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 <a target="_blank" rel="noopener noreferrer" href="https://art.kunstmatrix.com/apps/artspaces/?external=true&amp;uid=40272&amp;exhibition=11170245">art exhibition</a>. An&nbsp;event app will be available with engagement features and ways to connect with others.Attendees are asked to&nbsp;register prior to attending in-person or viewing the livestream, and registration is&nbsp;required&nbsp;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 <a target="_blank" rel="noopener noreferrer" href="https://directorsblog.nih.gov/2023/01/24/a-rare-public-health-challenge">public health challenge of rare diseases</a> — guest authored by NCATS director, Dr. Joni Rutter.

Director, National Center for Advancing Translational Sciences (NCATS), NIH

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

Executive Director, Faith-Based Genetic Research Institute; Program Director, Future Kings; CSO, Polaris Genomics

Tshaka J. Cunningham, Ph.D.

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,&nbsp;attendees may use the&nbsp;app to:<ul><li>Submit questions and chat.</li><li>Participate in exhibitor and poster presentation hours.</li><li>Directly message or virtually meet with others.</li><li>Personalize schedules and access the event's livestream.</li><li>Tour the Beyond the Diagnosis <a target="_blank" rel="noopener noreferrer" href="https://art.kunstmatrix.com/apps/artspaces/?external=true&amp;uid=40272&amp;exhibition=11170245">art exhibition</a>.</li></ul>

Sen. Roger F. Wicker (R-MS)

Director, Advanced Biomedical Computational Science, Frederick National Laboratory for Cancer Research

Manager, Advocacy and Community Engagement, Aldevron

Sharon J. King

<h4 style="text-align:center;">Partners in Planning</h4>

Team Lead, Rare Diseases Translational Research, Informatics Core, Division of Preclinical Innovation (DPI), NCATS, NIH

Aisha Dubose Campbell

Deanna Portero

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.

RD Caregiver; Co-Founder and CEO, FOXG1 Research Foundation; VP, Real-World Evidence and Ciitizen Platform, Invitae

Mario A. Estevez

Qian Zhu, Ph.D.

Brian Wallach, J.D.

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Golden Sponsors

Supervisor, Office of Patient Recruitment, Clinical Center, NIH

Uma Mudunuri, M.S.

Eric W.K. Sid, M.D., M.H.A.

House Co-Chair, Rare Disease Congressional Caucus

Ainslie Tisdale

<h4>Rare Diseases Are Not Rare!</h4>

CEO, Stupid Cancer, Inc.

Alison Silberman

Rare Disease Patient; Advisor, PHEFREE Consortium, RDCRN; Metabolism Nurse Practitioner, Boston Children's Hospital

Shazia Ahmad

<h4 style="text-align:center;">Overview</h4>

NIH Clinical Center

Rep. Gus M. Bilirakis (R-FL)

Principal Investigator, PHEFREE Consortium, RDCRN; Professor, Molecular and Medical Genetics, School of Medicine, OHSU

Cary O. Harding, M.D.

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Rare Disease Day at NIH Overview

Welcoming Remarks

NIH Leadership Remarks via Video

Rare Disease Congressional Caucus Remarks via Video

<ul><li>Overview</li><li>Genetic and Rare Diseases (GARD) Information Center</li><li>RARe-SOURCE: Integrated Bioinformatics Resource for Rare Diseases</li><li>Rare Disease Alert System</li><li>Platform Vector Gene Therapy (PaVe-GT) Program</li></ul>

Session 1: NCATS Rare Diseases Programs and Resources

The NIH Clinical Center’s Resources for Clinical Trials

The Children’s Inn and Resources for Patients and Families

<ul><li>Exhibits and Scientific Posters</li><li><a href="https://art.kunstmatrix.com/apps/artspaces/?external=true&amp;uid=40272&amp;exhibition=11170245" rel="noopener noreferrer" target="_blank">Art Exhibition</a></li><li>Networking</li></ul>

Break

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.

Session 2: Meeting the Needs of Adolescent and Young Adult (AYA) Rare Disease Patients

Rare Story #1: Becoming the Captain — My Experience Transitioning From Pediatric to Adult Health Care

Rare Story #2: Care Transition Challenges for Young Adults With Rare Diseases — A Patient and Provider Perspective

<ul><li><a href="https://events-support.com/Documents/NIH_RDD_2023_Visitor_Information.pdf" rel="noopener noreferrer" target="_blank">Food and Beverage Options</a></li><li>Exhibits and Scientific Posters</li><li><a href="https://art.kunstmatrix.com/apps/artspaces/?external=true&amp;uid=40272&amp;exhibition=11170245" rel="noopener noreferrer" target="_blank">Art Exhibition</a></li><li>Networking</li></ul>

Lunch (on your own)

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.

Session 3: Genetics, Gene-Targeted Therapies, and Diversity, Equity, and Inclusion

Rare Story #3: Where There Is Research, There Is Hope

Rare Story #4: Building Your Preclinical Toolbox — The Power of Your Patient Community

Rare Story #5: Creating Your Natural History Study

Rare Story #6: Scientific and Patient Journey to the First U.S. Food and Drug Administration–Approved Drugs for Two Rare Eosinophilic Diseases

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.

Session 4: Rare Diseases Therapeutics and the Role of Advocacy and Industry Collaborations

Closing Remarks

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PI, CEGIR, RDCRN; Director, Cincinnati Children’s Hospital Medical Center; Professor, University of Cincinnati

Joni L. Rutter, Ph.D.

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.

Senior Associate Scientist, Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute (NCI), NIH

Lori Wiener, Ph.D., DCSW, LCSW-C

Nikita Curry, M.H.A.

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 <a target="_blank" rel="noopener noreferrer" href="https://www.cdc.gov/coronavirus/2019-ncov/symptoms-testing/symptoms.html">COVID-19 symptoms</a>; 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.&nbsp;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<a target="_blank" rel="noopener noreferrer" href="https://www.cdc.gov/coronavirus/2019-ncov/your-health/covid-by-county.html"> CDC COVID-19 by County</a> page.<figure class="image image-style-align-center image_resized" style="width:75%;"><img src="https://hopin-prod-fe-page-builder.imgix.net/events/page_builder/000/391/896/original/ccd0b464-e5fe-4b9d-b26f-0888837792ee.png?ixlib=rb-4.0.0&amp;s=8da03ee0f532ddc26a1a94cbae6c2b7e"></figure>If you do not have a mask, they will be available at registration/check-in. Hand sanitizer will also be provided.

Lawrence A. Tabak, D.D.S., Ph.D.

Scientific Project Manager, Therapeutic Development Branch (TDB), Division of Preclinical Innovation (DPI), NCATS, NIH

Nasha Fitter, M.B.A.

NIH NCATS

Rep. Doris O. Matsui

<h2 style="text-align:center;">Rare Disease Day at NIH 2023</h2>

Alice Chen Grady, M.D.

Brittany M. Holmes, M.S.N., APRN, FNP-BC

Acting Director, Division of Rare Diseases Research Innovation (DRDRI), NCATS, NIH

Philip John (P.J.) Brooks, Ph.D.

Planning committee members include representatives from:<ul><li>National Center for Advancing Translational Sciences (NCATS)</li><li>NIH Clinical Center</li><li>National Cancer Institute (NCI)</li><li>National Heart, Lung, and Blood Institute (NHLBI)</li><li>National Institute on Alcohol Abuse and Alcoholism (NIAAA)</li><li>National Institute of Neurological Disorders and Stroke (NINDS)</li><li>Rare Diseases Clinical Research Network’s Coalition of Patient Advocacy Groups (RDCRN-CPAG)</li><li>U.S. Food and Drug Administration (FDA)</li><li>The Children’s Inn at NIH</li><li>EveryLife Foundation for Rare Diseases</li><li>National Organization for Rare Disorders (NORD)</li><li>United BioSource LLC (UBC)</li></ul>