Communication on rare diseases is crucial for scientists, MDs (medical doctors), and patient advocates to engage with the public. By communicating their work to the public, they can raise awareness about these conditions, potential treatments, and ongoing research efforts. This exchange of information fosters collaboration and enables the public to make informed decisions regarding their health or support for those affected by rare diseases. It also allows for the exploration of innovative ideas and potential breakthroughs through input from a diverse range of stakeholders.
Raising awareness about rare diseases is essential for several reasons. Firstly, increased awareness can lead to early diagnosis and intervention, which is crucial for improving patient outcomes. Many rare diseases are difficult to diagnose, and individuals may face delays in receiving appropriate care. By raising awareness among healthcare professionals and the public, individuals affected by rare diseases can receive timely and accurate diagnoses, leading to earlier access to treatment and support.
In order to contribute to the overall body of knowledge and understanding of rare diseases, Fondation Ipsen and Children’s National partnered to this new series of conferences / conversations, available for free in July and September.
Rare Disease Conversations – July Series
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“Rare Disease as a unique field of medicine”
By Pr. Marshall Summar
Director, Rare Disease Intitute Laboratory, Children’s national, USA
Dr. Summar is well-known for his pioneering work in caring for children diagnosed with rare diseases. He is now the Chief Executive Officer of Uncommon Cures, LLC, a rare disease clinical trials company focused on physically consolidating trials and using innovative technology to reduce time and cost. He joined Children’s National in 2010 where he founded and led the Rare Disease Institute the first dedicated home for the clinical care of patients with genetic rare diseases and The National Organization for Rare Disorders first designated Rare Disease Clinical Center of Excellence. He stepped down as RDI Director in 2022 to launch Uncommon Cures and tackle some of the long-standing issues around cost and execution of rare disease clinical trials.
Dr. Summar’s research has led to over 170 peer-reviewed publications. His work has resulted in new therapies for patients with sickle cell anemia, organic acidemias, congenital heart disease and premature birth with several FDA ongoing trials. He has over 100 international patents.
Dr. Summar is board-certified in Pediatrics, Clinical Genetics, and Biochemical Genetics. He served as President of the Board of Directors of the National Organization for Rare Disorders and is the past president of the Society for Inherited Metabolic Disorders. At NORD he was part of the effort that created digital registries for families (IAMRARE) and the NORD Clinical Centers of Excellence program. He serves on the Board or Advisory Committees of: The Black Women’s Health Imperative Rare Disease Diversity Coalition, PHLOW Pharmaceuticals, NIH’s National Center for Advancing Translational Sciences, Hemoshear Therapeutics, Arkansas Children’s Research Institute, the ACMG Public Policy Committee, NORD’s Public Policy Committee, the Advisory Board of the Swiss URPP ITINERARE, and others. In 2022, Dr. Summar was awarded NORD’s prestigious Lifetime Achievement Award for his work in Rare Disease.
‘Rare Disease Workforce: Planning for today and 100 years from now!” By Debra S Regier, MD PhD,
Interim Director, Children’s National Rare Disease Institute, Washington DC
Dr. Debra Regier is the Interim Chief for the Children’s National Division of Genetics and Metabolism. She cares for genetic, palliative care/genetic, and metabolic disease patients and families. Due to her drive to improve care for patients with Rare Diseases, she has worked to advance education across the nation through education of rare disease trainees, researchers, and primary care providers.
She serves on the board of directors for the Society of Inherited Metabolic Disorders. And she is the co-director for the NORD Centers of Excellence Education committee.
In her free time, she volunteers with Make-A-Wish and enjoys creating metabolic pathways using glass fusion techniques.
Rare Disease Conversations – September Series
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Sep. 7th – ‘Patient-Driven Science & Multi-Stakeholder Collaboration’, by Ronald J. Bartek
Co-Founder/President of the Friedreich’s Ataxia Research Alliance (FARA)
Co-founder and Founding President, Friedreich’s Ataxia Research Alliance (FARA), a non-profit organization supporting medical research; Co-Founder and Board Chair, NCATS Alliance; Board of Directors and past President, Alliance for a Stronger FDA; past Board Chair, National Organization for Rare Disorders (NORD); Past Board of Directors, Alliance for Regenerative Medicine; 4-year member, etc.
Sep 14th – “National Financial Impact of Rare Diseases” by Stuart Portman, MPH
MPH, Senior Health Policy Advisor, U.S. Senate Committee on Finance
Stuart Portman serves as Senior Health Policy Advisor on the U.S. Senate Committee on Finance for Ranking Member Mike Crapo. In this capacity, he handles all policies related to Medicaid and CHIP, including coverage and reimbursement. He has previously led policy development on issues related to the ACA Exchanges, health taxes, rare diseases, and health information technology. Prior to starting on the Committee on Finance in 2017, he served as the Senior Healthcare Legislative Assistant and Legislative Correspondent for Senator Orrin G. Hatch, where he focused on Medicaid, FDA-related policies, public health, and issues affecting individuals with disabilities. Stuart received his Master of Public Health degree specializing in health policy from the Milken Institute School of Public Health at The George Washington University and his Bachelor’s in Biology and Political Science from the University of Denver.
Sep 28th – “Increasing access to Rare Disease” by Frank Gupton, Ph.D.
Floyd D. Gottwald Chaired Professor, Department Chair, Department of Chemical and Life Science Engineering, Founder of the Medicines for All Institute, Virginia Commonwealth University
Dr. Frank Gupton is a professor at Virginia Commonwealth University and holds joint appointments in the Departments of Chemistry and the Department of Chemical and Life Science Engineering. He is the Floyd D. Gottwald Chair of Pharmaceutical Engineering and also serves as Department Chair of the Chemical and Life Science Engineering Department. His thirty-year industrial career centered on the development and commercialization of chemical processes for pharmaceutical applications. Dr. Gupton’s research group is currently focused on the development of continuous processing technology to facilitate the discovery, development and commercialization of drug products. Prior to joining the faculty at Virginia Commonwealth University, Dr. Gupton served as the Executive Director of North American Process Development for Boehringer Ingelheim Pharmaceuticals and led the commercialization of the widely prescribed HIV drug nevirapine. Dr. Gupton received his Bachelors of Science degree in chemistry from the University of Richmond and graduate degrees in organic chemistry from Georgia Tech and Virginia Commonwealth University.