Hope Through Action: How Adult Refsum Patients and Families Are Helping Build the Future of Research

In recognition of Summer Spotlight on Refsum Awareness, Global DARE Foundation is pleased to share this special conversation with Dr. Todd Durham, Senior Vice President of Clinical and Outcomes Research at the Foundation Fighting Blindness. In this interview, Dr. Durham discusses why patient registries and natural history studies are essential for advancing rare disease research, attracting therapeutic interest, and preparing communities for future clinical trials. Drawing on decades of experience working with inherited retinal disease communities, he shares lessons learned from successful rare disease initiatives and offers practical insights into what it takes to build momentum toward better treatments. We welcome your feedback and questions—please don’t hesitate to reach out. If you have any questions please contact Global DARE Foundation at [email protected] Speaker Bio: Dr. Todd Durham is Senior Vice President of Clinical and Outcomes Research at the Foundation Fighting Blindness, where he leads clinical research initiatives, including a 25,000-participant inherited retinal disease registry and genetic testing program. With more than 20 years of experience in clinical research, biostatistics, outcomes research, and drug development, he has led programs that contributed to multiple FDA approvals across rare diseases and ophthalmology. Todd also serves on the FDA’s Dermatologic and Ophthalmic Drugs Advisory Committee and is an adjunct associate professor at the University of North Carolina’s Gillings School of Global Public Health. Dianne Mitchell, PhD, is the Scientific Director of the Global DARE Foundation, where she leads research strategy and supports patient-driven initiatives for Adult Refsum Disease. She has over 20 years of experience in clinical genomics, drug development, rare disease research, and laboratory management. Dr. Mitchell completed her postdoctoral training at Harvard Medical School and has held senior roles in academic, industry and clinical laboratory settings. Her work has focused on developing genetic testing programs, improving laboratory quality systems, and building partnerships to help move research forward and improve care. Refsum Disease & Global DARE Foundation Did you know that one in 300 people who have Retinitis Pigmentosa also have Refsum disease? Many are diagnosed with Refsum Disease 15-20 years after being diagnosed with Retinitis Pigmentosa. Early diagnosis is so important because dietary therapy can slow sight and hearing loss associated with Refsum and lessen other symptoms. Join the Global DARE Foundation in making a difference for the Refsum community. Please consider making a donation at https://www.defeatadultrefsumeverywhe.... Your support helps fund essential research, increase awareness, and accelerate progress toward better treatments—and one day, a cure—for Refsum Disease. Every gift, no matter the size, brings hope to families living with this ultra-rare condition. Visit our website at https://www.defeatadultrefsumeverywhe... . Please share this video to raise awareness and enable early diagnosis! If you have any questions please contact Global DARE Foundation at [email protected] #curerefsum #retinitispigmentosa #lowvision