Community Impact



For the past 25 years, The UMDF Research Grant Program proudly funds clinicians at every stage of their professional career to cultivate the most promising science, no matter where it is in the world.


Dr. Brett Kauffman explains the value of the Bench to Bedside Program.

Each month, UMDF Science and Alliance Officer, Phil Yeske, PhD, and Brett Kaufman, PhD, Associate Professor of Medicine with the University of Pittsburgh School of Medicine, bring experts in the field of mitochondrial science and medicine together. It’s a collaborative gathering designed to share information, research and advances being made towards treatments and cures. The meetings are held virtually and have developed a large audience that includes both veteran scientists and newcomers to the field. They call this exchange of critical information – “Bench to Bedside”.

Bench to Bedside, also known as B2B, was one of the first educational ideas Dr. Kaufman brought to the UMDF Scientific and Medical Advisory Board (SMAB) when he assumed his new role on that board. Kaufman, developed the idea during the COVID-19 shutdown when scientific meetings were being cancelled or were being held virtually.

“I was missing the science, and I knew that meeting virtually enabled us to bring everyone together by eliminating geographic barriers,” Dr. Kaufman said. “I wondered why we couldn’t bring these two ideas together, in spite of all the barriers presented by COVID-19, for the mutual benefit to all.” After a discussion with Dr. Yeske and SMAB Chair, Bruce Cohen, MD, the concept moved from an idea to reality on a monthly basis.

Dr. Kaufman designed B2B to share information, research and advances in science and medicine while seeking the best treatments and potential cures for patient families. He continues to look for ways to enhance the B2B program with the aim toward sharing data, resources and concepts that can help patients and families.

“B2B is cross-educational, and we believe it can lead to bigger and better science no matter where it is in the world,” Dr. Kaufman said.


Several years ago, the United Mitochondrial Disease Foundation created a unique way for patient families to help direct research towards treatments and cures. Family Impact Funds were established by families as a way to honor or memorialize a loved one affected by mitochondrial disease. Donations to one of the funds ensures that the world’s top mitochondrial scientists are receiving the support they need to perform breakthrough research. Understanding the effect this type of funding can have for patients and families, Sherri and Alan Breslow of Cherry Hill, NJ, knew their participation and funding could not only help their daughter, Sydney, but other patient families in solving the mysteries of mitochondrial disease.

Sydney was diagnosed at the age of eight with a mutation in the gene MECR, which causes Mitochondrial Enoyl CoA Reductase Protein Associated Neurodegeneration (MEPAN). MEPAN is a relatively new type of mitochondrial disease that causes patients to have neurological problems that affect the ability to walk, speak and see. Despite her daily challenges, Sydney has persevered and graduated Summa Cum Laude from High Point University in May 2015 with a BA in Special Education. In December of 2017, Sydney received her Master’s Degree in Special Education with a concentration in Intellectual Disabilities from High Point University. She is currently pursuing her dreams and seeking opportunities to help people with disabilities reach their full potential.

A few years ago, out of a family tragedy, the Breslows created a family impact fund entitled “The Logan Sloane Aronson Research Fund in honor of Sydney Breslow”. Logan tragically lost his life in 2013. Logan was the beloved nephew of Sherri and Alan and Sydney’s cousin. Logan was an amazing young man who was interested in international business and had a great love of history. He was known for his common sense, street smarts and good nature. Wherever he was, his quick wit and great sense of humor drew people to him. Logan was an inspiration to all in the way he loved life, his family and friends. Determined to turn this loss into something positive, Logan’s parents, Debra and Ron Aronson, requested a research fund be established with the UMDF in memory of Logan and in honor of Sydney.

The Breslow family went to work to turn their family impact fund into a benefit for all patient families. They created an event, ‘Cousins for a Cure’, which has raised more than $500,000 since its inception.

“Our mission is to focus on providing support for patient families and to fund new, cutting edge research through the United Mitochondrial Disease Foundation,” said Alan Breslow during the 2020 Cousins for a Cure virtual event. Over the years, the funds have provided support for the innovative research projects presented during the Big Pitch by the scientists participating in the UMDF accelerators program.

Most recently, a lengthy and rigorous review process led the Breslows, the Logan Sloane Aronson Research Fund in honor of Sydney Breslow, and the UMDF to fund cutting edge research being conducted at Children’s Hospital of Philadelphia. The project, if successful, will advance the understanding of potential treatments for those with disorders of mitochondrial metabolism. Amazingly, the groundwork for the project began years before the creation of the family impact funds.

Dr. Richard Kelly first started treating Sydney when she was nine years old at Johns Hopkins in Baltimore. He was investigating a rare compound that was found in her urine. Sydney was having neurological problems that were getting worse. She was having trouble speaking and walking and had vision problems. At that time, Dr. Kelly suspected that Sydney had a mitochondrial disorder. He followed up with chemical testing in his own lab.

“Sidney was getting worse, so I had to find something that would slow down this metabolic abnormality that she had,” Dr. Kelley said. Further testing at the time was very limited, but Dr. Kelley was able to put together a plan that seemed to work to slow the progression of the disease for Sydney. “After stabilizing her condition, we watched her year after year for nearly 20 years.”

About seven years ago, Dr. Kelly performed an exome sequence test on Sydney. Those tests revealed a mutation in a specific enzyme. There was very little known about this enzyme, but Dr. Kelley knew of a colleague, Debbie Murdock, PhD, at CHOP who studied that particular enzyme. He contacted Dr. Murdock, because he believed she may have some answers for him and Sydney. Dr. Murdock is an expert on the questionable enzyme that was revealed in Sydney’s exome testing.

Dr. Kelley went to CHOP to meet with Dr. Murdock at the Center for Epigenomic Medicine. As doctors Kelley and Murdock were speaking, Douglas Wallace, PhD, passed Dr. Murdock’s office. Dr. Wallace, who is renowned for his study of mitochondrial disease and dysfunction, is the Director for Epigenomic Medicine. The three began to discuss the enzyme and, out of that conversation, it was decided that the three would collaborate on the problem with Dr. Murdock serving as the lead investigator on a study of the enzyme.

“Up until that point, we had been working on this enzyme in our lab, but we never had a patient who had this disorder,” Dr. Murdock said. “Then along came Sydney.”

In investigating Sydney’s mutation, they realized that the enzyme was critical for proper function of the brain and eyes. They needed additional research to understand the pathway the enzyme takes to those organs. The team had several theories and tested them all. With research funding from the Breslow family, they were able to create a mouse model with a mutation similar to Sydney’s. The researchers were also able to create a cell line from Sydney with the hope of developing treatments and potential cures. Creating a cell line is new and uses the latest, cutting edge technology. Additionally, the success of this research could lead to the creation of a therapeutic for patients with MEPAN.

“To be able to edit the genome and put in the exact mutation affecting Sydney speaks to the power of the research being conducted at CHOP and the tools that are being developed to help us find answers to mitochondrial disease,” said Philip Yeske, PhD, UMDF Science and Alliance Officer. “The best science comes out of collaboration. This work is thanks to the Breslow family and the Logan Sloane Aronson Research Fund in honor of Sydney Breslow.”

Dr. Yeske believes that while this research could develop potential treatments for patients like Sydney over the next few years, it will also help other mitochondrial disease patients.

“Anything we learn from this research has the opportunity to benefit every person on the face of the earth,” Dr. Yeske said.