UMDF Launches New Mito Biorepository with COMBINEDBrain
UMDF has partnered with the nonprofit COMBINEDBrain to develop a mitochondrial disease biorepository hosted on mitoSHARE, UMDF's patient registry.
Patients with any form of a genetically confirmed mitochondrial disease can now participate in the biorepository by donating a sample or samples -- blood, urine, or nasal swab -- at any of the ten upcoming COMBINEDBrain roadshows across the United States, including the Clinical Research Pavilion at UMDF's Mitochondrial Medicine Conference 2025 in St. Louis. Click here for a list of opportunities.
"A biorepository is a crucial tool to better understand a disease, develop new treatments, and work toward potential cures," said Dr. Philip Yeske, UMDF's Science and Alliance Officer. "Having a robust, well-curated biorepository focused on mitochondrial disease has been a major ask of the research community and industry for years, but it's logistically complex. Partnering with COMBINEDBrain allows UMDF to focus on patient participation and marketing, while they work on collecting, housing, and distributing samples."
Participating in the biorepository is a three-step process:
Join mitoSHARE, UMDF's patient registry, which is the home for all types of patient data at umdf.org/mitoSHARE.
After joining, participants will need to upload results of genetic testing to be curated by the mitoSHARE genetic counseling team. This process takes 3-4 weeks, so participants are encouraged to allow plenty of time.
Once eligibility is confirmed, an invitation will be sent to participate in one of the collection points available at ten events across the country, including the Mitochondrial Medicine Conference.
If you have questions about the process, you’re encouraged to contact UMDF’s Science and Alliance team at 1-888-317-UMDF or registry@umdf.org.
Mitochondrial Medicine 2025
St. Louis, MO - June 18 - 21, 2025
MitoMed: Family Programming Highlights Shared Wisdom: Insights from Mito Patients at Different Stages of the Journey, a session designed to help with practical knowledge, strategies, and resources to navigate key transitions in the mito journey — whether it's moving from pediatric to adult care, managing legal and financial preparations, or building a strong support network. Through shared experiences and expert insights, participants will leave with actionable steps to prepare for their next stage with confidence.
Beyond the Diagnosis: Addressing Grief, Mental Health, and Palliative Care for Mitochondrial Disease Patients, a session designed to provide a comprehensive understanding of mental health challenges within the mitochondrial disease patient community, explore the role and misconceptions of palliative care, and equip attendees with practical coping skills for managing grief and progressive loss. This interactive session will facilitate learning from experts, offer valuable insights into understanding mental health for the mito patient, and provide an opportunity for discussion and support through both large group and small group formats.
MitoMed Scientific & Clinical Programming Highlights Masterclass on Primary Mitochondrial Myopathy with a Focus on TK2d For the first time ever, Mitochondrial Medicine Conference will be hosting a Masterclass for the science and medical community. The Masterclass, which will be Saturday, June 21, from 9am – 2pm, will spend a day going over Primary Mitochondrial Myopathy with a Focus on TK2d, with two tracks -- Early Career Investigators and Up-and-Coming Clinicians. Note: The Early Career Investigators track is not disease-specific, but for anyone working in the field of mitochondrial medicine. For more information, visit the Masterclass page. The Masterclass is funded via a medical education grant by UCB.
Clinical Research Pavilion to Return Returning to the conference in 2025 is the Clinical Research Pavilion, which allows conference attendees to participate in clinical research on-site. Watch the combined Bench-to-Bedside and Ask the Mito Doc for a review of Clinical Research Pavilion in 2024 and a preview of 2025.
Become an accelerator UMDF will once again host “The Big Pitch” at MitoMed 2025 where three promising post-doc researchers will compete for a $50,000 accelerators prize as part of the 2025 Research Grant Program. Each finalist gives a five-minute pitch on their research project live at the conference. UMDF accelerators have the exclusive opportunity to vote for their favorite pitch. Visit the UMDF accelerators page to find out how to become an accelerator today.
Watch for a Special Research-Focused Give Hope Mailer this Spring
Watch your mailbox later this month for a special mailer featuring Dr. Shilpa Iyer, a mitochondrial disease researcher with the University of Arkansas and member of UMDF's Scientific and Medical Advisory Board. In the piece, you can read what she thinks about the future of mitochondrial disease science – hint: “very bright” -- and learn how a chance but life-changing conversation at UMDF’s Mitochondrial Medicine Conference helped light her professional path. You can help empower researchers like Dr. Iyer by donating to UMDF’s Give Hope in 2025.
Become Part of UMDF’s Hope Flies Monthly Giving Program UMDF’s Hope Flies monthly giving program offers a “set it and forget it” option for donors looking to make a year-round impact. No matter how much you schedule to give, monthly gifts help chart a course toward treatments and eventual cures for mitochondrial disease by providing a predictable stream of funding year-round. See how you can become part of Hope Flies today at umdf.org/hopeflies.
Survey Shows Potential Medicaid Changes Pose Significant Risk to Mito Community
As part of UMDF’s commitment to raising the voices of the mitochondrial disease community on Capitol Hill, the organization asked affected families to take a survey on potential changes to Medicaid last month. Amongst the findings:
92% of respondents stated that proposed Medicaid changes would impact their ability to access necessary treatments, specialists, or diagnostic services.
95% of respondents reported that Medicaid changes would affect their ability to afford essential medications, medical equipment, or supportive therapies.
88% of respondents stated they would have no viable alternative coverage if Medicaid were reduced or restricted.
86% of respondents indicated that Medicaid cuts would increase their likelihood of hospitalization due to loss of access to essential treatments.
The results were shared with targeted members of Congress last week, but we encourage everyone to TAKE ACTION: Share the report with your members of Congress, along with your personal story. For more information, visit umdf.org/advocacy.
All 2025 Energy for Life Events Now Open for Registration
Seventeen Energy for Life events are officially open for 2025, making now the perfect time to register to walk, build a team, or volunteer!
Energy for Life Walkathons help fund mitochondrial disease research, education, and advocacy, while supporting and connecting mito families. Last year, walkathons brought in over $500,000 from across the country, money that is crucial in helping chart the course toward mitochondrial disease treatments and eventual cures.
If you or someone you know is interested in doing more for the mito community, contact us to learn how you can be a part of the planning committee for an Energy for Life event! Get involved by visiting energyforlifewalk.org.
Bench-to-Bedside Join moderator Fernando Scaglia, MD, for the next Bench-to-Bedside seminar on April 14 at 12:00pm ET focused on Mitochondrial Genetics and Use of Biomarkers for Mitochondrial Disease. Click here to register.
Topic and Speakers/Panelists include:
Clinical Diagnostic Testing of mtDNA genome for Primary Mitochondrial Disease - Jing Wang, MD, FACMG, ASCP (MB), Children's Hospital of Philadelphia, PA
Use of Biomarkers for Mitochondrial Disease (GDF15, neurofilament light chain, and potentially FGF21 and gelsolin) - Devin Oglesbee, PhD, Mayo Clinic, Rochester, MN
MitoWorld: Beyond the Disease
Each month, the research team at UMDF partner, MitoWorld, provides a #BeyondTheDisease feature recapping the latest mitochondrial research and news, along with analyzing future impact on mitochondrial disease research.
This month, read featured work from MitoWorld’s Gary Howard and Gordon Freedman on topics like the unique research facility at UCLA, the effort to look at the distribution of mitochondria throughout the brain, gene editing to engineer specific mtDNA mutations, small molecule inhibitors, and more – along with a feature on Lurie Prize winner Navdeep Chandel, PhD, who heads the Chandel Lab at Northwestern.
UMDF has partnered with the nonprofit COMBINEDBrain to develop a mitochondrial disease biorepository hosted on mitoSHARE, UMDF's patient registry.
MitoMed: Family Programming Highlights
Watch your mailbox later this month for a special mailer featuring Dr. Shilpa Iyer, a mitochondrial disease researcher with the University of Arkansas and member of UMDF's Scientific and Medical Advisory Board. In the piece, you can read what she thinks about the future of mitochondrial disease science – hint: “very bright” -- and learn how a chance but life-changing conversation at UMDF’s Mitochondrial Medicine Conference helped light her professional path. You can help empower researchers like Dr. Iyer by 
As part of UMDF’s commitment to raising the voices of the mitochondrial disease community on Capitol Hill, the organization asked affected families to take a survey on potential changes to Medicaid last month. Amongst the findings:
Seventeen Energy for Life events are officially open for 2025, making now the perfect time to register to walk, build a team, or volunteer! 
