Podcasts about collagen vi

In this episode of It Happened To Me, hosts Cathy Gildenhorn and Beth Glassman are joined by Kelly Berger and Avery Roberts, two women living with congenital muscular dystrophy and the co-hosts of the podcast Wheel Talk. Congenital muscular dystrophy, or CMD, is a rare group of genetic conditions that affect muscle strength and mobility from birth or early childhood. For Kelly and Avery, living with CMD has shaped their experiences with independence, accessibility, mobility, advocacy, and identity. But as they make clear in this conversation, disability is not something to be hidden, minimized, or “fixed.” It is part of who they are. Kelly and Avery share how they met, what life with CMD looks like for each of them, and how their relationship with disability identity has evolved over time. They also discuss what respectful support from others can look like, why unsolicited assumptions can be harmful, and how people can better understand wheelchair users as whole people living full, ordinary, meaningful lives. The conversation explores Kelly and Avery's advocacy work, including their meetings with state and federal legislators around rare disease, disability rights, Medicaid, and 504 protections. They discuss the importance of bringing lived experience into policy conversations, as well as their role in helping spearhead the U.S. portion of the inaugural World Collagen 6 Awareness Day (June 6th). Collagen 6-related muscular dystrophy is the ultra-rare form of CMD that both Kelly and Avery live with, making awareness and community-building especially meaningful. Kelly and Avery also reflect on launching Wheel Talk podcast in 2025, why they felt a podcast was needed, and how they balance visibility with vulnerability when sharing their lives publicly. Through their platform, they are breaking down stereotypes, challenging misconceptions, and creating space for more honest conversations about disability, rare disease, and identity. Discussion Topics: What congenital muscular dystrophy is and how it affects muscle strength and mobility Kelly and Avery's personal experiences living with CMD How wheelchair users can be supported respectfully Common misconceptions about disability and mobility aids Why disability identity can be empowering Advocacy around rare disease, Medicaid, disability rights, and 504 protections The importance of Collagen 6 Awareness Day Building community within the rare disease and disability spaces Why Kelly and Avery launched their podcast Wheel Talk Advice for children growing up with physical disabilities Hopes for the future of CMD research, disability inclusion, and community advocacy About Kelly Berger and Avery Roberts Kelly Berger and Avery Roberts are two women living with congenital muscular dystrophy and the co-hosts of the podcast Wheel Talk. Through their advocacy, public speaking, media work, mentorship, and legislative engagement, they use their lived experiences to challenge stereotypes, advance disability rights, and build community for people living with rare disease and physical disabilities. Relevant Resources The Capitol Crawl in March 1990  Wheel Talk Podcast Website Wheel Talk Podcast's Instagram  Wheel Talk Podcast via Apple Wheel Talk Podcast via Spotify Avery's Instagram  Kelly's Instagram World Col6 Myopathy Day MedlinePlus' Collagen VI-related dystrophy  Connect With Us   Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com.

Leading into Rare Disease Week on Capitol Hill when a team of more than a dozen CMD community members from around the U.S. will advocate for policies, greater funding, and support for CMD...we thought it would be good to check in with Gustavo Dziewczapolski, PhD, Cure CMD Scientific Director, on the current state of CMD research. Quick find for each subtype: 1. SEPN1 - 05:45 2. LMNA - 15:05 3. Collagen VI - 21:46 4. LAMA 2 - 31:35 5. a-Dystroglycanopathy - 38:09 Funding portfolio online: https://www.curecmd.org/funding-portfolio Dr. Dziewczapolski received his Master's degree from the University of Buenos Aires, followed by a Ph.D. in Neuropharmacology. Before joining Cure CMD in September 2016, he researched neurological diseases for eighteen years at UC San Diego and the Salk Institute. He is the father of two beautiful daughters, Tatiana and Rafaela, who continue to challenge and inspire him. And to balance his addiction to chocolate, he enjoys surfing and soccer. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

Transition from teenager to college-bound can be hard for any young adult, and frequently is increasingly more challenging for those with a disability to factor in. Liam Miller is currently a sophomore Computer Science major at Temple University in Philadelphia, Pennsylvania who is not letting Collagen VI slow him down - he’s active socially and academically, as well as plays for the Philadelphia Flyers PowerPlay - Power Wheelchair Floor Hockey. Liam shares with us his experiences transitioning to college and the importance he learned in planning ahead.

Paolo Bonaldo, Biotechnology Center, Lab. of Matrix Biology and Functional Genomics Department of Molecular Medicine, University of Padova - ITALY speaks on "Collagen VI, a key extracellular regulator of skeletal muscle".This seminar has been recorded by ICGEB Trieste

Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.

Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.

A total of 74 human skin wounds were investigated and collagen types I and VI were localized in the wound area by immunohistochemistry. Collagen type I appeared in the form of ramifying string-like structures after approximately 5–6 days, but positive reactions in the form of a spot-like staining around isolated fibroblasts also occurred in a skin wound aged 4 days. Collagen VI was detectable after a post-infliction interval of at least 3 days showing a strongly positive reacting network associated with fibroblasts in the wound area. Both collagens appeared almost constantly after a wound age of 6–7 clays and could also be found in wounds aged a few months. Therefore, although a positive reaction for collagen type I in the form of string-like and ramifying structures around wound fibroblasts indicates a wound age of at least 5–6 days, a spot-like positive staining for collagen type I cannot exclude a wound age of at least 4 days. A positive staining for collagen type VI represents a post-infliction time of 3 days or more. The almost constant appearance of these collagen types suggests that negative results in a sufficient number of specimens indicate a wound age of less than 6–7 days, but cannot completely exclude longer post-infliction intervals. Since collagen type I and VI are also found in the granulation/scar tissue of lesions with advanced wound age, the immunohistochemical analysis of these proteins provides no further information for an age determination of older skin wounds.