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NIH Building, Rare Disease Day Light Up For Rare
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Agenda

  • Rare Disease Day at NIH Overview

    Main Agenda

    Feb 28 02:00PM–02:10PM UTC

  • Welcoming Remarks


    Main Agenda

    Feb 28 02:10PM–02:20PM UTC

  • NIH Leadership Remarks via Video

    Main Agenda

    Feb 28 02:20PM–02:30PM UTC

  • Rare Disease Congressional Caucus Remarks via Video

    Main Agenda

    Feb 28 02:30PM–02:50PM UTC

  • Session 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

    Main Agenda

    Feb 28 02:50PM–03:50PM UTC

  • The NIH Clinical Center’s Resources for Clinical Trials

    Main Agenda

    Feb 28 03:50PM–04:05PM UTC

  • The Children’s Inn and Resources for Patients and Families

    Main Agenda

    Feb 28 04:05PM–04:20PM UTC

  • Break

    Break

    Feb 28 04:20PM–04:40PM UTC

  • Session 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

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

    Main Agenda

    Feb 28 05:20PM–05:35PM UTC

  • Rare 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

  • Lunch (on your own)

    Break

    Feb 28 05:50PM–06:30PM UTC

  • Session 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

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

    Main Agenda

    Feb 28 07:30PM–07:50PM UTC

  • Break

    Break

    Feb 28 07:50PM–08:10PM UTC

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

    Main Agenda

    Feb 28 08:10PM–08:25PM UTC

  • Rare Story #5: Creating Your Natural History Study

    Main Agenda

    Feb 28 08:25PM–08:40PM UTC

  • Rare 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

  • Session 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.

    Main Agenda

    Feb 28 09:00PM–09:45PM UTC

  • Closing Remarks

    Main Agenda

    Feb 28 09:45PM–10:00PM UTC

Speakers

Joni L. Rutter, Ph.D.

Joni L. Rutter, Ph.D.

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

James K. Gilman, M.D.

James K. Gilman, M.D.

CEO, Clinical Center, NIH

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

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

Performing the Duties of the NIH Director

Sen. Roger F. Wicker (R-MS)

Sen. Roger F. Wicker (R-MS)

Senate Co-Chair, Rare Disease Congressional Caucus

Rep. Gus M. Bilirakis (R-FL)

Rep. Gus M. Bilirakis (R-FL)

House Co-Chair, Rare Disease Congressional Caucus

Rep. Doris O. Matsui

Rep. Doris O. Matsui

House Co-Chair, Rare Disease Congressional Caucus

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

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

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

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

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.

Elizabeth A. Ottinger, Ph.D.

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

Uma Mudunuri, M.S.

Uma Mudunuri, M.S.

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

Qian Zhu, Ph.D.

Qian Zhu, Ph.D.

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

Richa Madan Lomash, Ph.D.

Richa Madan Lomash, Ph.D.

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

Nikita Curry, M.H.A.

Nikita Curry, M.H.A.

Supervisor, Office of Patient Recruitment, Clinical Center, NIH

Aisha Dubose Campbell

Aisha Dubose Campbell

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

Abby Sandler, Ph.D.

Abby Sandler, Ph.D.

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

Hilary Gan, M.A.

Hilary Gan, M.A.

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

Alison Silberman

Alison Silberman

CEO, Stupid Cancer, Inc.

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

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

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

Abbey Hauser

Abbey Hauser

Young Adult Rare Disease Advocate

Cary O. Harding, M.D.

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

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

Deanna Portero

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

Tshaka J. Cunningham, Ph.D.

Tshaka J. Cunningham, Ph.D.

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

Shengdar Q. Tsai, Ph.D.

Shengdar Q. Tsai, Ph.D.

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

Mario A. Estevez

Mario A. Estevez

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

Marcela A. Ferrada, M.D.

Marcela A. Ferrada, M.D.

Staff Clinician, Vasculitis Translational Research Program, NIAMS, NIH

Michael Linn

Michael Linn

Director and Vice Chair, Relapsing Polychondritis Foundation

Pangkong Fox, Ph.D.

Pangkong Fox, Ph.D.

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

Nasha Fitter, M.B.A.

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.

Marc E. Rothenberg, M.D., Ph.D.

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

Ellyn Kodroff

Ellyn Kodroff

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

Shazia Ahmad

Shazia Ahmad

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

Sharon J. King

Sharon J. King

Manager, Advocacy and Community Engagement, Aldevron

Sandra Abrevaya, J.D.

Sandra Abrevaya, J.D.

Rare Disease Caregiver; Co-Founder, I AM ALS

Brian Wallach, J.D.

Brian Wallach, J.D.

Rare Disease Patient; Co-Founder, I AM ALS

Kristen Wheeden, M.B.A.

Kristen Wheeden, M.B.A.

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

Jennifer Beck

Jennifer Beck

Erythropoietic Protoporphyria Patient and Advocate

Alice Chen Grady, M.D.

Alice Chen Grady, M.D.

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

Ainslie Tisdale

Ainslie Tisdale

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

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