Advances in Refsum Disease Research
During Refsum Awareness Week 2024, Global DARE Foundation hosted a webinar that provided an update on key research initiatives related to Adult Refsum Disease. Dr. Wedad Fallatah discussed the ongoing Refsum mouse model study at Kennedy Krieger Institute, which is generating valuable pilot data for future large-scale grants. Dr. Rachel Huckfeldt then covered gene-agnostic clinical trials targeting Retinitis Pigmentosa (RP), a condition affecting all individuals with Adult Refsum Disease.
Speaker Bios
Rachel Huckfeldt, MD, PhD is an Assistant Professor of Ophthalmology at Harvard Medical School and a clinician-scientist at Massachusetts Eye and Ear. She specializes in inherited retinal disorders with a particular focus on clinical trials of investigational genetic therapies. Dr. Huckfeldt completed her MD and PhD at Washington University in St. Louis, where she researched retinal development. Her postdoctoral work at the University of Pennsylvania focused on novel therapeutics, followed by clinical fellowships in medical retina and inherited retinal disorders. She is the Co-Chair of the Foundation Fighting Blindness Clinical Consortium and guides multicenter clinical studies.
Wedad Fallatah, MD, PhD is a physician-scientist with a deep focus on peroxisomal disorders. She earned her PhD in Human Genetics from McGill University, where she contributed significantly to the understanding of Rhizomelic Chondrodysplasia Punctata (RCDP) through natural history studies and preclinical testing of novel therapies. Dr. Fallatah is currently a postdoctoral fellow at Kennedy Krieger Institute and Johns Hopkins University, where she continues her research in peroxisomal disorders. Her work on the Refsum model was recently recognized with the “Best Poster Award” in the category of biomedical research at the 10th Annual Johns Hopkins Postdoctoral Conference.
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. 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]
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