Genetic Disorders of the Eye: Living with Vision Loss, Patient Advocacy, and Rare Disease Research with Dr. Fahim and Dr. Moen

03/06/2025 56 min Temporada 3 Episodio 15
 Genetic Disorders of the Eye: Living with Vision Loss, Patient Advocacy, and Rare Disease Research with Dr.  Fahim and Dr. Moen

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Episode Synopsis

What is it like to live with a rare genetic eye disorder? Join Dr. Abigail Fahim and Dr. Chris Moen as they discuss choroideremia—a progressive retinal disease—and how research, advocacy, and patient experience intersect to push for treatments and improve quality of life.Dr. Fahim shares her cutting-edge research into the cellular mechanisms driving this progressive condition, while Dr. Moen—a physician, patient, and advocate—shares his personal experience with vision loss and the systemic gaps that impact those with rare diseases.Together, they explore:What choroideremia is and how it affects visionHow inherited retinal diseases are diagnosed and why genetic testing mattersThe challenges of developing gene therapies for rare conditionsWhy clinical trials often fail despite promising scienceHow patient advocacy groups like the Choroideremia Research Foundation are driving progressAssistive technology, mobility, mental health, and accessibility for the blind and visually impaired🔬 Dr. Fahim is an Assistant Professor of Ophthalmology at the University of Michigan 🩺 Dr. Moen is formerly the Chief Medical Officer of the Choroideremia Research Foundation and a retired emergency physicianLove this podcast? Write to us with ideas, feedback, and guest recommendations at [email protected] Dr. Abigail Fahim on Social MediaBio & Research Page: https://medicine.umich.edu/dept/ophthalmology/abigail-t-fahim-md-phdFahim Lab: https://medresearch.umich.edu/labs-departments/labs/fahim-lab Follow Dr. Chris Moen on Social MediaLinkedIn: https://www.linkedin.com/in/christopher-moen-2aabb1/Choroideremia Foundation: https://www.curechm.org/Mentioned on the Podcast - HYBRD: Website Link : https://www.hybrd.app/ iOS App Store Link: https://apps.apple.com/us/app/hybrd-hybrid-athlete-tracker/id6670271875 Director & Host: Dasha Tyshlek, StratCraft, Inc. www.strat-craft.comExecutive Producer: David Chen, Managing Director & Instructor of Engineering Design, UVASenior Producer: Hannah Moore, Associate Director, UVA CoulterDesign Director: Carolyn Wagner, Inc. & Link: carolynwagnerinc.comProduced on behalf of Wallace H. Coulter Center for Translational Research at University of Virginia https://engineering.virginia.edu/centers-institutes/coulter-center-translational-research

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