Jeremy’s Story: Research at UC San Diego Offers Hope for Rare Disease

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• Mario Aguilera - [email protected]

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Charcot-Marie-Tooth (CMT) disease is a genetic neurological disorder that progressively causes muscle weakness in the legs, hands, feet and other critical areas. While many CMT patients begin to experience symptoms of the disease in their teen years, six-year-old Jeremy has suffered from the effects of CMT since the age of one.

Jeremy's father and mother, Michael and Korina, saw the disease first affect Jeremy's ability to walk, followed by hand and wrist weakness and vision impairment due damage to his optic nerves.

"Every one to two years it takes away a different piece of him," said Michael. "Although he hasn't really known a normal life where he's moved the way most of us do, I still wish the best for him and I want him to have a future where he can move around more and be more independent."

University of California San Diego Adjunct Associate Professor Uri Manor is using advanced research instruments within the university's Goeddel Family Technology Sandbox to study CMT in novel ways. Unprecedented views of the genetic mutations responsible for the disease, along with AI advancements, are offering new hope for therapeutic solutions for Jeremy and others who suffer from CMT.

Researchers in Manor's lab are using cells from Jeremy and other patients to study CMT as it unfolds. The onset of Jeremy's symptoms at such an early age is providing Manor and his colleagues with new insights on how the disease progresses.

"Jeremy's symptoms mean the progression of the disease is happening quickly. Many (CMT patients) end up requiring a wheelchair by the age of 10," said Manor, inaugural faculty director of the Goeddel Family Technology Sandbox, which was established in partnership with Thermo Fisher Scientific as a hub of advanced technologies capable of uncovering new biomedical solutions. "Now that we can see what's happening in the disease at such a molecular, detailed level, we can test whether any therapeutic candidates can reverse all those signatures. Our goal is to accelerate the development of therapies so that we can try to stop this disease in its tracks before that critical age."

Advancements in AI are allowing Manor's team to accelerate information analysis to understand the impacts of the genetic mutations behind CMT and open new ideas and innovative approaches. "That's a huge part of the future of science and therapeutics development," said Manor.

For Jeremy and his family, research innovation and technological advancements at UC San Diego offer hope for a CMT cure.

"Knowing that institutions have dedicated resources and brilliant minds to try and make discoveries that are going to make a difference gives us so much hope for the future that maybe some day Jeremy will have a better life where he can function better on his own and act independently," said Michael.

Manor continues to study CMT as an associate member in the Department of Imaging Sciences at St. Jude Children's Research Hospital. Supporters of the research include: the Charcot-Marie-Tooth Association, the CMT Research Foundation, Thermo Fisher Scientific, Nikon, Goeddel Family, the National Institutes of Health/National Institute of Neurological Disorders and Stroke, the Chan-Zuckerberg Institute and UC San Diego.

Read more news about: Behind Every Breakthrough, School of Medicine, Health Innovation