The Global Genes RARE Health Equity Forum is the first one-of-a-kind event focused on the intersection of rare disease and health equity with an agenda built around creating systemic and organizational change. The conference was developed to better understand the persistent gaps that exist in the rare disease community for underrepresented and/or marginalized patient populations, including those who are still seeking a diagnosis or are unaffiliated with a disease-specific foundation.
In 2024, its fourth year, the theme of the event was “Together in Equity, Driving Change”. Through plenary sessions, networking and interactive table talks, the event empowers attendees with actionable tools and strategic insights to advocate for a more inclusive rare disease community. Many of those sessions were recorded and can be viewed below.
Sessions from the Health Equity Forum
HEF 2024 Health Equity Forum Keynote Address Living Rare Within Rare
Dr. Wright discusses the historical contexts, complex issues, arduous challenges, and unconscious biases in the diagnosis and treatment of people of color who are “rare within rare,” while sharing how her husband’s unique rare disease journey inspired and led to their mission and commitment to advocating for underrepresented populations.
• Michele Wise Wright, Ph.D., Co-Founder, National Organization of African Americans with Cystic Fibrosis
HEF 2024 Lessons from the Field Best Practices for Engaging Community Partners
This session will explore trust as a concept of something that is earned, and will identify the changes needed from healthcare institutions to do so. Pulling on success stories, panelists will discuss community engagement vs community immersion and how to actively empower the community as a partner.
Moderator: Fatima Scipione, VP Global Patient Affairs, Blueprint Medicines
- Claudia Gonzaga-Jauregui, Ph.D., Assistant Professor, International Laboratory for Human Genome Research (LIIGH) of the National Autonomous University of Mexico (UNAM)
- Siwaar Abouhala, Clinical Research Coordinator, The Broad Institute
- Cecile Jones, Alabama Community Health Ambassador, All In. Rare
HEF 2024 The Monarch Initiative Informatics and Open Data Sharing
The Monarch Initiative is an international consortium focused on developing rare disease standards and methods for leveraging biomedical knowledge to connect genotypes with phenotypes to improve genetic diagnostics. The ultimate goal is to help clinicians diagnose patients faster and researchers to develop the best treatments more quickly.
Melissa Haendel, Ph.D., Director of Precision Health & Translational Informatics, University of North Carolina at Chapel Hill
HEF 2024 Data Driven Music An Exploration of Rare Disease Harmony
Prof. Taylor will discuss music driven advocacy through demonstration of his music composition based on a catalog of 230 rare diseases that was curated by Dr. Aditi Kantipuly. 12 categories of disease correspond to the 12 Indian chakras, which provide a background harmony for each category. Stephen Andrew Taylor composes music that explores boundaries between art and science. His first orchestra commission, Unapproachable Light, inspired by images from the Hubble Space Telescope and the New Testament, was premiered by the American Composers Orchestra in 1996 in Carnegie Hall. Taylor is Professor of Music at the University of Illinois, Urbana-Champaign.
HEF 2024 Q&A following the film screening of Holding Moses
After a screening of the film Holding Moses at our Health Equity Forum we welcomed the rare mom featured in the film, Randi Rader, and the film’s director Rivkah Beth Medow to the stage to take questions from Daniel DeFabio and our Health Equity Forum audience. Randi’s son Moses has Phelan-McDermid Syndrome.
HEF 2024 Diversity in Rare Clinical Trials What’s Working and What Isn’t
Historically marginalized racial groups, women and other minoritized communities are notably underrepresented in clinical trials, despite efforts and investment by advocates and health equity leaders. This panel will discuss effective strategies to address the lack of diversity in clinical trials.
Moderator: Kim Moran, Ph.D., Head of U.S. Rare Disease, UCB
- R’Kes Starling, Founder, Reveles Clinical Research
- Richie Kahn, MPH, Co-Founder, Canary Advisors
- Tanvee Varma, M.D., Resident Physician, Brigham and Women’s Hospital
HEF 2024 Rural Rare Healthcare
Rural residents often encounter barriers to healthcare including workforce shortages, health insurance status, transportation issues, health literacy, and stigma in rural communities. These disparities are even greater among historically marginalized communities and rare disease patients. Panelists will discuss the work they are doing to combat these challenges.
Moderator: Shobana Kubendran, CGC Genetic Counselor, KU School of Medicine-Wichita
- Ana Cohen, Ph.D., Assistant Director, Molecular Genetics Laboratory, Children’s Mercy
- Nadia Falah, M.D., Clinical Geneticist, Johns Hopkins All Children’s Hospital
- Abdallah F. Elias, M.D., FAAP, FACMG, Chief Medical Officer, Shodair Children’s Hospital
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