UMDF: The Podcast

Every breakthrough in mitochondrial disease research starts the same way – with a patient's voice. This episode traces that full journey: how listening to patients shapes the questions researchers ask, how natural history studies build the foundation for understanding a disease, and how that knowledge translates into clinical trials designed to test real therapies. Along the way, we'll explore why this only works when patients, clinicians, researchers, advocacy organizations, and industry all row in the same direction – and why that collaboration is what ultimately accelerates the path to treatments and cures. Featuring  •    Philip Yeske, PhD, Science & Alliance Officer, United Mitochondrial Disease Foundation •    Kristie Cline, Head of Patient Advocacy, Pharming •    Magnus Hansson, MD, PhD-VP and Clinical Development Head for Mitochondrial Disease, Pharming •    Danielle Black, MPH, Clinical Research Coordinator, United Mitochondrial Disease Foundation

Introducing a special episode of the Powerhouse Podcast: Making Sense of Mito - FBXL4-Associated Mitochondrial Disease. This special edition episode spotlights researchers and the years of scientific work to understand FBXL4 alongside the stories and perspectives of parents of children impacted by FBXL4-associated mitochondrial disease. Helping to Make Sense of Mito are our co-hosts: two researchers from Washington University in St. Louis, Keri-Lyn Kozul, PhD and Hannah Pletcher, and mito mom/podcaster/foundation co-founder, Susan Geoghegan. This special episode bridges the gap to tell the story of FBXL4, bringing together the "team" working toward treatments, including the patient families and the scientists FEATURED GUESTS · Janice Belcher, mom to Juliet · David Alsina, PhD, Laarson Lab at Karolinska Institute, Sweden: https://ki.se/en/people/david-alsina o The Laarson Lab: https://molmet.ki.se/nils-goran-larsson · Mike and Susan Geoghegan, parents to Lorelei and Benji · Julia Pagan, PhD, Pagan Lab at University of Queensland, Australia: https://biomedical-sciences.uq.edu.au... o The Pagan Lab: https://biomedical-sciences.uq.edu.au... · Natalie Niemi, PhD, Niemi Lab at Washington University, St. Louis, MO, US: https://biochem.wustl.edu/faculty/niemi o The Niemi Lab: https://www.niemilab.com · Kevin and Courtney Kline, parents to Emery Special thanks to the families who contributed photos of their children. REFERENCED IN THIS EPISODE Apricity Hope Project: https://apricityhope.org When Autumn Comes: https://apricityhope.org/autumn/ Live Like Lorelei: Amazon link to purchase UMDF's Mitochondrial Medicine Conference: https://umdfconference.org/

Our Powerhouse Podcast for October features Morgan Crowley, DC, a chiropractor from Michigan, and Diego Santos, a medical student at Geisinger Commonwealth School of Medicine and Researcher at CHOP. Both of these incredible panelists have been training, fundraising, and spreading awareness on UMDF's #TeamActivate for the Bank of America Chicago Marathon on Sunday, October 12 -- all in service to our community with mitochondrial diseases. To them, the marathon is a bonus. It's the cause -- the mission -- that is primary. We can't be more grateful and motivated by two people who care for patients with #mitochondrialdisease in their professions AND spend their personal time fundraising toward treatments and cures. We're cheering for them and all of our Team Activate runners, who have dedicated every mile toward making a difference. #fueledbymitochondria   Follow Morgan's Run Journey on Facebook/Instagram @chiroontherun Follow Diego's Run Journey on Instagram @jd_santos26 Give in support of Team Activate runners at umdf.org/teamactivate 

We'd proud to introduce you to Making Sense of Mito - FBXL4-Associated Mitochondrial Disease. In this new episode (dropping soon), Dr. Keri-Lyn Kozul, PhD and Hannah Pletcher, researchers from Wash U St. Louis, and Susan Geoghegan of Apricity Hope Foundation team up to weave the science and the patient journeys together into the story of FBXL4, an ultra rare mitochondrial disease. Listen in as we tease out how this special episode came to be and the hopes for all it will become to both our research and patient communities.   Featured Guests: Keri-Lyn Kozul, PhD and Hannah Pletcher Niemi Lab at Washington University, St. Louis https://www.niemilab.com   Susan Geoghegan The Apricity Hope Project https://apricityhope.org/susan-geoghegan/ 

In this episode, we celebrate the career of David Whiteman, BM, BCh, FAAP, FACMG, currently a Principal Consultant at Blue Lobster Discovery. With 30 years of experience in academic medicine as a specialist in genetics and metabolics and 20 years of experience in drug development and pharmaceutics, Dr. Whiteman has dedicated his career to the care of patients and treatment of rare diseases, including mitochondrial diseases.   Joined part-way through the episode by surprise guest and colleague, Dr. Jerry Vockley, MD, PhD, FACMG of the University of Pittsburgh, UMDF's Philip Yeske, PhD, Dr. Whiteman, and Dr. Vockley discuss the decades of change in rare and mitochondrial medicine, the challenges of rare disease drug development and regulation, and long-awaited developments to come for the mito community.

On this November's Powerhouse Podcast episode, we're proud to feature runners from our 2024 UMDF Team Activate who fundraised and ran in the Bank of America Chicago Marathon.   Listen in as Micah, Lisa, and Aaron share with us their training tips, race day peaks and valleys, and their experiences putting their miles toward the mission of UMDF.   If you're interested in going the distance toward treatments and cures for mitochondrial disease like these runners, contact us about a spot on our 2025 Team Activate charity team. Email [email protected]  

This month, we meet with Olivia Chambers, a college athlete at the University of Northern Iowa. She has faced many challenges due to multiple mtDNA deletions, which have primarily impacted her eyesight. Olivia, 2024 Paralympic gold and silver medalist, joins us to talk about her passion for distance swimming, being a Paralympian, the onset of mitochondrial disease for her at age 16, and life with vision loss. Don't miss this Powerhouse!   00:00 - 21:00 -- A Passion for Swimming and Being a Paralympian 21:35 - 41:35 -- Vision Loss as a Teen and Finding a Mitochondrial Disease Diagnosis 42:10 - 60:00 -- College Life and the Help and Support of Assistive Tech, Family, and Friends 

On this special edition of the Powerhouse Podcast, Miranda Franco, Senior Policy Advisor for Holland & Knight, joins us for a recap of new movements in mito-related legislation and the ways we could use your help in governmental advocacy for the mitochondrial disease patient community. Take action at umdf.org/advocacy.

This latest episode of the Powerhouse Podcast is all about sharing your story and raising mito awareness. For this special edition Powerhouse, we had amazing talks with:  Lindzi Scharf, Mito Mom, Journalist and founder of Retaility.com Linda Ramsey, Mito Mom, UMDF Support Ambassador, and 2024 Energy Award Winner Nikki Huggan, Mito Mom, UMDF Support Ambassador, and Vice-Chair of PA's Families to the Max. With World Mitochondrial Disease Week 2024 around the corner, we dig deep into all the many ways that we can tell mito stories and pave the way for other patients and families with mitochondrial diseases-- whether in published works, social media sharing, grassroots presentations, or even advocacy work on the state level. #IlluminateTomorrow and Raise your Voice.

Join us for the Powerhouse Podcast this month featuring Leslie Kirby, co-founder of Run4Raley, as the Kirby family is heading into their 17th year of their fundraising event in Philo, IL. Leslie shares about the work they've done as a tribute to their daughters, Raley and Aubree, at their local hospital and in fundraising for UMDF to help other families like them. Learn more about Run4Raley and Hope4Aubree at run4raley.org