Collagen VI…Not the Skincare One: Woman Behind the Science
When most people hear the word “collagen,” they think skincare, beauty trends, or protein powders. But for the congenital muscular dystrophy (CMD) community, Collagen VI means something entirely different. In this episode, we were honored to be joined by the incredible Dr. A. Reghan Foley, Senior Research Physician in the Neuromuscular and Neurogenetic Disorders of Childhood Group at the National Institutes of Health (NIH), to unpack the science, lived experiences, and human stories behind Collagen VI-related dystrophies (COL6-RD), including Bethlem myopathy, intermediate, and Ullrich congenital muscular dystrophy. Dr. Foley has dedicated her career to advancing research and improving the quality of life for individuals living with COL6-RD. Together, we explore what Collagen VI actually does in the body, how genetic changes impact muscles, and why these conditions are so often misunderstood. We also dive into the emotional journey of diagnosis, the realities of living with COL6-RD, and the importance of research that truly listens to disabled voices.
Episode Disclaimer
This episode discusses medical conditions, research, and lived experiences related to Collagen VI-related dystrophies (COL6-RD). The content shared is for informational and educational purposes only and should not be considered medical advice, diagnosis, or treatment recommendations. Always consult your healthcare team regarding personal medical decisions or concerns.
The thoughts and opinions expressed by the hosts and guest are their own and do not necessarily reflect the views of any affiliated organizations or institutions.
Links Mentioned:
* Merlin Bird App: merlin.allaboutbirds.org [https://merlin.allaboutbirds.org/]
* Congenital Muscle Disease International Registry (CMDIR): cmdir.org [https://www.cmdir.org/]
* Global Registry for COL6-related dystrophies: collagen6.org [https://collagen6.org/]
* COL6 Alliance: musculardystrophyireland.weebly.com/collagen-vi-alliance.html [https://musculardystrophyireland.weebly.com/collagen-vi-alliance.html]
* COL6 patient organizations to donate and support research:col6fund.org [https://www.col6fund.org/]fundacionnoelia.org/en/ [https://fundacionnoelia.org/en/]curecmd.org [https://www.curecmd.org/]musculardystrophyuk.org [https://www.musculardystrophyuk.org/]mda.org [https://www.mda.org/]
* World COL6 Awareness Day held annually on June 6th: col6.world [https://col6.world/]
Connect with Kelly Berger
Instagram [https://www.instagram.com/thekellyberger/] | Facebook [https://www.facebook.com/thekellyberger/] | LinkedIn [https://www.linkedin.com/in/thekellyberger/]
Connect with Avery Roberts
Instagram [https://www.instagram.com/avery.nicole916/] | Facebook [https://www.facebook.com/averyroberts916] | LinkedIn [https://www.linkedin.com/in/averyroberts916]
Intro/Outro Music Created by Andy Rusch
Image Description: Avery, Kelly, and Dr. A. Reghan Foley engage in a virtual conversation. Dr. Foley, on the left, is a woman with light skin, has brown hair tied up, and is wearing a blue shirt. Behind her, an office space is visible. Kelly, in the middle, is a woman with light skin and light brown hair. She is wearing a pink collared shirt, a nose ring, and white earbuds, and is positioned in front of a wall, out of focus, with some decor. Avery, on the right, is a woman with light skin and brown, wavy hair. She is wearing a light grey top and white earbuds. A microphone is positioned in front of her, and the background is blurred, with what appears to be a window behind her.
