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/

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/

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