Two UMass Chan professors receive grant to fund rare disease research

PHOTO | Courtesy of UMass Chan Medical School Microbiology professors Jun Xie and Guangping Gao at UMass Chan Medical School

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By Isabel Tehan

Microbiology professors Jun Xie and Guangping Gao at UMass Chan Medical School have received $74,000 from Tennessee foundation EndAxD to fund their research into a treatment for Alexander disease, a fatal neurological disease.

A rare disease, there have been approximately 500 cases of Alexander disease reported since its discovery in 1949, according to EndAxD. Rare diseases pose challenges for researchers due to lack of information, cases, and scarcity of funding.

There are an estimated 6,500 to 7,000 rare diseases, of which less than 5% have a treatment approved by the U.S. Food and Drug Administration, according to the National Institutes of Health.

Gao and Xie, the UMass Chan professors set to receive the funding, will use it to bring gene therapy research they have conducted in mice into the next phase of clinical development. The vector they have developed silences the gene mutation causing the disease in mice, according to a Friday announcement from the Worcester-based medical school.

“This support will allow us to move forward in our investigation to an advanced animal model for AxD. This is a critical, preclinical step to translating from bench to bedside, and bringing gene therapy to patients in the clinic who are struggling with this deadly disease,” said Gao, professor of microbiology & physiological systems, director of the Horae Gene Therapy Center and co-director of the Li Weibo Institute for Rare Diseases Research at UMass Chan.

Five clinical trials for Alexander disease treatments have taken place across the U.S. in the last 10 years, according to the U.S. National Library of Medicine. Current treatments for the disease are only supportive, not curative.