Join us June 8-10, 2022 for the 2022 RARE Drug Development Symposium in Philadelphia, PA!

Rare disease research is rapidly evolving.  But new models come with new challenges that must be addressed in order to bring treatments to those who need them as quickly and effectively as possible. 

You can help shape the future of rare disease research and treatment development.

The Rare Drug Development Symposium, in partnership with the Orphan Disease Center of the University of Pennsylvania, brings together rare disease advocacy leaders and researchers to identify barriers to research, envision solutions, and accelerate progress for our communities.

This two-day, in-person-only summit offers a unique opportunity to engage in interactive small-group workshops with experts and peers, followed by a “speed greeting” networking event designed to foster productive connections between advocates, researchers, and industry leaders. Topics include:

  • Disruptive Innovations in Trials: Clinical trials for orphan diseases are often smaller than those of non-orphans due to low disease prevalence and patient heterogeneity. In this session, we’ll discuss the potential for using efficient trial design, data aggregation and sharing, to create inclusive data sets and reduce clinical trial delays and terminations. We’ll also touch on uses of real world data (RWD) to replace or boost clinical placebo arms, impact recruitment, or enhance impact by linking to surveys. Different platforms that manage, handle and connect data will be highlighted and advantages and limitations of specific features will be discussed.
    • Vanessa Vogel-Farley, Research and Data Governance Lead RARE-X, former ED of the Dup15q Alliance
    • Jennifer Tjernagel, MS, Senior Project Manager, Simon’s Searchlight, Simon’s Foundation
    • Craig Lipset, Founder, Clinical Innovation Partners
    • Caitlin Nichols, PhD, Research Director, AllStripes
  • AI-Driven Screening Platforms and New Approaches to Therapeutics: Big data, acquired over years across multiple rare diseases, and made even more meaningful by adding samples from patient communities, provides an unparalleled opportunity to accelerate progress.  AI-driven approaches, such as high throughput screening (HTS) combined with statistical modeling can drive discovery, shape predictions, and assist in the targeted design of disease therapeutics. Understanding the potential of these applications will provide deeper insight into novel ways to help shorten the ‘end-to-end’ timeline, identify both specific- and broad-based disease therapies, and yield broader insight into mechanisms of disease convergence. But, the ‘human interaction component’ still remains essential to the success of advancing such approaches. In this session, we’ll look at how machine learning can help identify potential novel therapies and approved therapies that can be repurposed, and share thoughts on how regulatory policies will need to align with this rapidly evolving area of research.
    • Rick Monsma, PhD, Senior Vice President of Scientific Operations, New York Stem Cell Foundation
    • Amina Qutub, PhD, VP of Computational Biology at Rarebase
    • Darius Adams, MD, Lead Clinician, Clinical Trials Advisor,  INADcure Foundation
  • Emerging Models & Partnerships: Eliminating barriers requires us to rethink what’s possible. In this session, we’ll discuss and share experiences from some groundbreaking models, such as:
    1) CDKL5’s successful global partnerships and resource-sharing, including CANDID, Loulou Foundation’s pre-competitive observational study involving seven industry partners, and the International CDKL5 Clinical Research Network (ICCRN), a collaborative engaged in an NIH NINDS-sponsored clinical trial readiness study
    2) n-Lorem, a non-profit foundation that provides personalized ASOs to ultra-rare (1-30) patients for free and
    3) PriZm Therapeutics, a biotech founded in 2021 which has rapidly pushed forward to obtain orphan drug designation, rare pediatric disease designation and FDA agreement on the primary endpoint, to bring a first-in-class treatment for MCT8 deficiency (AHDS), to phase 3 clinical trials. 4) the MPS Society which has served for over four decades as the national umbrella organization for multiple subtypes of mucopolysaccharidoses, supporting a collaborative research, funding and advocacy model specific to MPS and other lysosomal storage diseases groups.
    • Daniel J. Lavery, PhD, Chief Scientific Officer, Loulou Foundation
    • Karen Utley, RN,  Co-Founder and President, International Foundation for CDKL5 Research
    • Amy Williford, PhD, Senior Director of Communications and Donor Relations, n-Lorem
    • Khemraj Hirani, MPharm, PhD., RAC, CIP, CCRP, RPH, MBA, Scientific Co-Founder, Prizm Therapeutics
    • Matthew Ellinwood, DVM, PhD Chief Scientific Officer, National MPS Society
  • Fostering Successful Connections Between Stakeholders to Accelerate Progress: Working together can help rare communities go further, faster, but there can be challenges along the way. We will highlight several successful collaborations:
    1) the Rare Epilepsy Network, a partnership between epilepsy organizations and academia,
    2 ) the Epilepsy Research Roundtable which brings regulators and industry together to collectively address roadblocks,
    3) the Epilepsy Learning Healthcare System (ELHS) which layers research on clinical practice to generate RWE and RWD, and
    4) the NIH-funded Rare Disease Clinical Research Network (RDCRN), a collaboration between 20 teams of scientists, clinicians, patients, families, and patient advocates.

    • Brandy Fureman, PhD, Chief Outcomes Officer, Epilepsy Foundation
    • Ilene Miller, JD, Director of the Rare Epilepsy Network
    • Yssa DeWoody, PhD, Co-Founder/Director of Research, Ring14; Co-Leader of the Commission for Copy Number Variants; Coordinating Committee Chair, Rare Epilepsy Network
    • Tiina Urv, PhD, Program Officer, Rare Diseases Clinical Research Network
    • Adeline Vanderver, MD, Children’s Hospital of  Philadelphia


Global Genes and the Orphan Disease Center of the University of Pennsylvania, will publish a report summarizing challenges, solutions, models of success, and a vision for the future based on the event.

A Year-Long Initiative in Rare Drug Development

In addition to activities surrounding the RARE Drug Development Symposium in June, Global Genes will provide educational resources to help advocates and organizations become better equipped to work with researchers and industry partners throughout the drug development process. This will include:

Thank you to our webinar sponsor Jazz Pharmaceuticals

Jazz Pharmaceutical

From: 06/08/2022 - To: 06/10/2022

All day event

201 North 17th Street, Philadelphia, Pennsylvania, United States of America

Thank you to our 2022
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