Announcing research partnerships with Washington University and Houston Methodist Hospital

The Mitchell and Friends Foundation exists, in part, to promote research into understanding and treating Mitchell Syndrome.

To that end, we are blessed and excited to be working in partnership with two world-class research laboratories—The Miller Lab at Washington University School of Medicine in St. Louis, led by renowned physician-scientist Dr. Tim Miller, and the laboratory of Dr. Hyunglok Chung at Houston Methodist Hospital. In 2017, Dr. Chung was the first to identify Mitchell Syndrome, while working in the laboratory of Dr. Hugo Bellen at Baylor College of Medicine as part of the Undiagnosed Diseases Network, or UDN.

As of December 2023, The Miller Lab is researching the possible application of Antisense Oligonucleotides (ASOs) on Mitchell Syndrome patients. ASOs are a promising new line of gene therapy in which ACOX1 gain-of-function gene mutations are “knocked out,” and hindered from producing the neurological symptoms of Mitchell Syndrome. Additionally, the researchers at Washington University School of Medicine are conducting a “Retrospective Natural History Study” to gather as much medical data on Mitchell Syndrome patients around the world, to understand the disease better. (To participate in this study, click HERE.)

Also as of December 2023, Dr. Chung at Houston Methodist is conducting research on how existing medicines might work on Mitchell Syndrome patients—including Vitamin B2 (aka Riboflavin), N-Aceytl Cysteine (NAC), and N-Aceytl Cysteine-amide (NACA). All of these drugs have shown some benefit in laboratory experiments conducted on fruit flies with Mitchell Syndrome.

While the path toward drug development, approval, and human application can be slow, The Foundation is optimistic that these lines of research can produce treatments that can ultimately help Mitchell Syndrome patients. As we learn more about Mitchell Syndrome, we also believe that doctors will identify other possible treatments. But research at these world-class facilities is expensive, and while these researchers are donating much of their time to further this effort, we still want to support the work as much as we can. After contributing $50,000 to Dr. Chung’s laboratory in 2023, and $100,000 to the Mitchell Syndrome Fund at Washington University (used to support the efforts at The Miller Lab), we have set as our goal to contribute another combined $100,000 to both these labs, by the end of 2024.

To make a donation to these research efforts, click the Give button below.

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