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

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 vision
• How inherited retinal diseases are diagnosed and why genetic testing matters
• The challenges of developing gene therapies for rare conditions
• Why clinical trials often fail despite promising science
• How patient advocacy groups like the Choroideremia Research Foundation are driving progress
• Assistive 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 physician

Love this podcast? Write to us with ideas, feedback, and guest recommendations at [e-mail].

Follow Dr. Abigail Fahim on Social Media

Bio & Research Page: https://medicine.umich.edu/dept/ophthalmology/abigail-t-fahim-md-phd

Fahim Lab: https://medresearch.umich.edu/labs-departments/labs/fahim-lab

Follow Dr. Chris Moen on Social Media

LinkedIn: 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.com

Executive Producer: David Chen, Managing Director & Instructor of Engineering Design, UVA

Senior Producer: Hannah Moore, Associate Director, UVA Coulter

Design Director: Carolyn Wagner, Inc. & Link: carolynwagnerinc.com

Produced on behalf of Wallace H. Coulter Center for Translational Research at University of Virginia https://engineering.virginia.edu/centers-institutes/coulter-center-translational-research

Informative for rare disease patients of all kinds!

There is a lot of information here about strategies for rare disease patients to organize and advance research into our conditions. Much appreciated!