Week in Rare 2024 RARE Advocacy Summit sessions for Growing your Organization Research Readiness

The Global Genes Summit is known for bringing together those facing the challenges of rare disease life, whether they are veteran advocacy leaders or those newly diagnosed or still seeking a diagnosis.  In 2024 between our plenary talks each day, attendees were able to select from three simultaneous program offerings. One focused on the individual living with a rare disease (or their caregiver). The next focused on issues important to those leaders of patient advocacy organizations who are looking to build their skills and improve the capacity of their organization. The third series of sessions centered on how advocates and PAG leaders can move the research forward for treatments for the rare disease that concerns them.

Sessions for Growing your Organization’s Research Readiness

Know and Build Your Strength as a Research Partner

A hands-on workshop featuring the FasterCures Research Partnership Maturity Model. Learn about the four domains of research capacity, and identify next steps to increase your organization’s partnership value.

• Facilitator: Raymond Puerini, Associate Director, FasterCures

Unlocking the Future The Role of Natural History Studies

Hear about best practice and case studies for improving patient outcomes, uncovering insights on disease and treatment, and identifying what is acceptable to the U.S. Food and Drug Administration (FDA).

• Moderator: Deena Chisholm, Ph.D., Research Engagement Director, TANGO2 Research Foundation

Panelists:

• Lea Ann Browning-McNee, Director of Communication and Engagement, Reagan-Udall Foundation for the U.S. FDA

• Elizabeth Cassidy, Research Project Manager, Tuberous Sclerosis Alliance

• Kasha Morris, Co-Founder, TANGO2 Research Foundation

A Guide to Biomarkers and Outcome Measures

How are biomarkers and outcome measures different? How can biomarkers be used as surrogate endpoints? And what is the role of Patient Advocacy Groups in identifying them?

• Moderator: Terry Jo Bichell, Ph.D., Founder, COMBINEDBrain

Panelists:

• Pat Furlong, Founding President and CEO, Parent Project Muscular Dystrophy
• Celia Goeldner, Clinical Expert Team Leader, Clinical Scientist, Roche
• Matthew Killinwood, National MPS Society

Quick Wins Long Term Investments in Data

Use the power of data to make a difference for patients and improve life now for your community members. Maximize users for broadest impact, move the needle with in-home collection and use data to create and maintain clinical guidelines.

• Moderator: Zohreh Talebizadeh, Ph.D., Senior Director, RARE-X Research Program, Global Genes

Panelists:

• Wendy Chung, M.D., Ph.D., Chief of Pediatrics, Boston Children’s Hospital

• Marianne Clancy, Executive Director, Cure HHT

• Jennifer Foss-Feig, Ph.D., Principal Investigator, Foss-Feig Lab, Icahn School of Medicine, Mount Sinai

Overcoming the Valley of Death in Research

Navigating from bench to bedside is one of the greatest challenges rare disease leaders face. What do PAGs need to do to de-risk drug development for partners? What internal and external expertise can you tap? Is venture philanthropy an option?

• Moderator: Danny Levine, Life Sciences Writer, Global Genes

Panelists:

• Sharie Haugabook, Ph.D., Senior Project Manager and Drug Development Lead, Therapeutics for Rare and Neglected Disorders (TRND), National Institutes of Health (NIH)

• Christopher Hopkins, Ph.D., CEO, Devine Bio • Michael Hund, CEO, EB Research Partnership

• Yael Weiss, Ph.D., CEO, Mahzi Therapeutics

Looking for the Common in Rare

Hear case studies from industry and advocacy. Our panelists will be discussing how each collaboration evolved, what the outcomes were, and factors that led to success.

• Moderator: Danny Levine, Life Sciences Writer, Global Genes

Panelists:

• Simon Frost, CEO and Co-founder, Tiber Capital Group

• Karmen Trzupek, Senior Director, Scientific Programs, Global Genes

• Joni Rutter, Ph.D., Director, National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH)

Using AI to Improve Diagnosis

Learn how researchers are using AI and real world data to detect rare diseases earlier, clarify diagnoses and find solutions for the undiagnosed.

• Moderator: Danny Levine, Life Sciences Writer, Global Genes

Panelists:

• Erik A. Feingold, CEO and Co-founder, FDNA

• Melissa Haendel, Ph.D., Director of Precision Health and Translational Informatics, University of North Carolina, Chapel Hill

• Kat Schmolly, M.D., Founder, zebraMD

Is Our Community Ready for Gene Therapy?

Find out how advocacy groups, researchers and industry use the GENE TARGET framework to determine readiness for gene therapy, identify gaps in the translational research pipeline and prioritize funding and research efforts.

• Moderator: Shruti Mitkus, Ph.D., Director, Patient Services, Global Genes

Panelists:

• Raymond Belanger-Deloge, Translational Genomic Medicine Specialist, Rosamund Stone Zander Translational Neuroscience Center, Boston Children’s Hospital

• Matt Fuller, Ph.D., Executive Director, Gene Therapy Research, Ultragenyx

• Ashley Point, President, Koolen De-Vries Syndrome Foundation