Cultivating the Best Science is Our Best Hope

Our Roadmap to a Cure

The Roadmap to a Cure initiative guides the UMDF mission and focuses on three pillars: Diagnosis, Therapeutic Development and Patient Care. We aim to fast-track science, fund infrastructure and push progress across each pillar.

“UMDF is the largest funder of mitochondrial research outside of the federal government.  In the last few years, discovery has streamlined the diagnosis for many and allowed designer therapies to be developed for several rare diseases that may be translatable to mitochondrial diseases.  The Roadmap to a Cure provides direction for obtaining a diagnosis, developing care pathways for patients and finding therapies to alleviate symptoms.”

 

Dr. Bruce H. Cohen

Chair, UMDF Scientific & Medical Advisory Board

DIAGNOSIS

The Challenge

The pathway to a mitochondrial disease diagnosis is not standardized.

Our Commitment

Create a better diagnostic scenario to identify and characterize mitochondrial disease patients based on health information, genetic testing and bio samples.

Our Strategy

  • Increasing Awareness
  • Improving Diagnoses
  • Developing Tools to Measure Mitochondrial Health/Disease

THERAPEUTIC DEVELOPMENT

The Challenge

There is an absence of well-controlled studies within the field and no licensed therapies for mitochondrial disease in the United States.

Our Commitment

Coordinate stakeholders in academia, government and the drug development industry to address validated outcome measures, patient-report outcomes and regulatory guidance to gain treatments more efficiently and quickly.

Our Strategy

  • Facilitating Drug Development
  • Identifying and Funding Gaps from Basic Science to Clinical Trials

PATIENT CARE

The Challenge

Clinical care for mitochondrial disease patients is often inconsistent, and insurance reimbursement for rare disease care is challenging.

Our Commitment

Leverage the national focus on personalized medicine to develop programs and tools that will advance, optimize and lead to standards of patient care for the mitochondrial disease community. 

Our Strategy

  • Personalized Medicine
  • Patient/Clinical Education
  • Developing Coordinated Care Models
  • Establishing Centers of Excellence

Clinical Trial Opportunities for Patients

Our best hope for finding treatments and cures is clinical trials. For research studies to be effective, a large amount of data from a large pool of participants is essential. We urge patients to join the fight and engage in clinical trials to help make a difference for future generations.

Stay up-to-date on the latest news and updates on clinical trials. Visit the UMDF Clinical Trials page.

Learn More About UMDF’s

Research Grant Program

The UMDF Research Grant Program was established in 1996 at a time when no other organization existed to fund mitochondrial disease research. Today, UMDF is the largest, non-governmental funder of basic and translational research designed to bring the best science from the bench to bedside.

Annual UMDF Grant Prize Winners

The UMDF Research Grant Program proudly funds clinicians at every stage of their professional career to cultivate the most promising science.  All submitted research projects are peer reviewed by the top global scientific and medical experts in the mitochondrial research field.

2022 Prize Winner

Sara Carli

Sara Carli, PhD

Università di
Bologna, Italy

Project Summary

Mitochondria have their own genetic material, the mitochondrial DNA (mtDNA). Having too little mtDNA is one of the causes that drives the onset of Mitochondrial Depletion Syndromes (MDSs). Patients with MDS experience a spectrum of symptoms which generally lead to death in a few months. mtDNA depletion could be due to a defect in the production of a primary building block or gene of the mitochondrial DNA. Currently, there are no animal models present to better understand MDS or to test the effectiveness of therapeutic treatments. This project proposes to create a mouse model that will be used to better understand the progression of MDS. With a mouse model available I will then test the effectiveness of gene therapy, an innovative therapeutic approach to restoring the defective gene that causes MDS. 

2021 Prize Winner

Lia Mayorga, MD, PhD

IHEM
Mendoza, Argentina

Project Summary
Human cells have two types of DNA, nuclear and mitochondrial DNA. The latter controls energy production for the body which is essential for life. Each cell has many mitochondria to generate sufficient energy for our organs, and inside each mitochondrion, there are many copies of mitochondrial DNA. In patients with certain types of mitochondrial diseases, the mitochondrial DNA copies are not identical, resulting in a mixture of defective and normal copies. The defective copies lead to poor mitochondrial function and disease, so the more defective vs. normal copies a cell has, the worse the disease symptoms. Our goal is to develop a method to selectively reduce the number of defective mitochondrial DNA copies, leaving mostly normal ones. Gene therapy strategies that have worked for nuclear DNA defects have not reached clinical trials for mitochondrial genes because the mitochondrion is very selective as to what can or cannot enter the organelle. We propose a different approach taking advantage of the cell’s natural communication between the nucleus and mitochondria. Previous work has shown that intense mitochondrial dysfunction, such as the one present in cells with mostly defective mitochondrial DNA, produces modifications to nuclear DNA (not in sequence, but in function) that perpetuate the survival of such unhealthy cells and sustain disease symptoms. Consequently, we plan to modify these nuclear DNA modifications that exist in dysfunctional cells to “select” cells with the less defective mitochondrial function. This nuclear DNA modulation technique is already used to treat other illnesses, which increases the possibility for it to reach clinical trials in less time.

2020 Prize Winner

Kinsley Christopher Belle

Stanford University
Stanford, CA

Project Summary
Mutations in mitochondrial DNA result in an array of disease which can be found in nearly all tissue types of the human body. Furthermore, these mutations can exist in varying states of prevalence due to a rare phenomenon known as heteroplasmy. Heteroplasmy is the percentage of mutant mitochondrial DNA within a cell, tissue, or organ system.  The level of heteroplasmy or the percentage of mutation directly correlates with disease and cellular dysfunction. 

Our objective is to determine how internal factors, such as development and cell specification cues, as well as external stimulus, oxygen levels, energy substrates, and drug compounds influence mitochondria heteroplasmy. Our preliminary assessments suggest that cell-type development and cell division influence heteroplasmy in developing tissues, additionally our work on cell conditions, and small molecules has yielded promising preliminary results for possible therapeutics. This body of work serves as a template for discovering compounds that reduce mitochondrial heteroplasmy and thus disease burden in patients.

2019 Prize Winner

Arwen Gao

Ecole Polytechnique Federale de Lausanne (EPFL)
Lausanne, Switzerland

Project Summary
Dr. Gao was awarded a $50,000 prize for her project entitled Identification of Novel Compounds to Treat Rare Mitochondrial Diseases. The goal of this research project is to identify novel compounds that increase the amount of mitochondria and/or activate the identified pathway in lab-based cell models. The compounds that work best in the cell models will be subsequently tested in animal models of mitochondrial disease. Future work with top compound candidates have the potential to pave the way towards the development of novel drugs targeting rare mitochondrial diseases.

Interested in applying for a UMDF Research Grant?   

Your Dollars at Work

Your donations power our ability to support science dedicated to mitochondrial disease research.

million in grants awarded

million stimulated in government grant follow on funding

labs funded and launched

million dedicated to Leigh Syndrome Roadmap Initiative

Making an Impact in Drug Development

UMDF recognizes industry as an essential partner in developing treatments and cures for mitochondrial disease.

Industry Advisory Council

Our Industry Advisory Council (IAC) is organized to optimize collaboration with global pharmaceutical companies, diagnostic centers, supplement manufacturers and assisted device services to help move our mission forward.

MEET OUR INDUSTRY ADVISORY COUNCIL  → 

Facilitating Drug Development

There is a need to generate more urgency within the drug industry to invest and develop therapeutic treatments focused on mitochondrial disease.

WATCH THE VIDEO → 

A National Organization with a

Global Reach

No single organization can take on mitochondrial disease alone. UMDF has gathered the leading mitochondrial disease patient advocacy groups from around the globe to form and fund The Leigh Syndrome International Consortium. This Roadmap to a Cure project showcases our active dedication to find the best science wherever it is located in the world.

UMDF MITO NEXUS

UMDF interacts with multiple organizations and is the nucleus of many infrastructure projects dedicated to mitochondrial disease clinical research and patient care. UMDF is collaborating with key stakeholders to create a single hub essential for sharing and dispersing critical information to benefit the entire mitochondrial disease community.

UMDF stewards the Mitochondrial Disease Community Registry, a collection of patient health data and symptoms to study diagnosis.

UMDF is an executive committee member of the North American Mitochondrial Disease Consortium, a clinical research network funded by NIH.

UMDF plays an active role and co-funds the Mitochondrial Care Network to optimize clinical care.

UMDF collaborates with the Mitochondrial Disease Sequence Data Resource Consortium, a partnership with Children’s Hospital of Philadelphia to consolidate research data.

Give a Gift. Get a Vote.

Join our accelerators program where engaged philanthropists are getting a first-hand look at promising research.