Category: Rare Disease Research

See how researchers at Massachusetts General Hospital are working to improve our understanding of rare diseases and develop new treatments for patients.

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Researcher Studies Grandson’s Rare Genetic Mutation

Mass General’s Marian DiFiglia, PhD, is working to advance research on the rare genetic mutation that affects her grandson.

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How a Medical Mystery Launched a New Avenue of Osteoporosis Research

Bone health specialists typically spend their time trying to figure how to slow or stop the bone loss that leads to osteoporosis. What if they could find a new way to stimulate the growth of new bone tissue instead?

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Rare Disease Day 2019: Neuromyelitis Optica

Rare diseases can be very complex to treat due to lack of understanding, little to no options for treatment and limited funding. But it is for these reasons that raising awareness and supporting research and funding for rare diseases is so important. In honor of Rare Disease Day this year, we are highlighting a rare disease called neuromyelitis optica (NMO).

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New Imaging Protocol Could Vastly Accelerate Clinical Trials for New ALS Treatments

Researchers at Massachusetts General Hospital have developed a new technique for imaging the brains of patients with amyotrophic lateral sclerosis (ALS) that could vastly reduce the cost and time needed for new clinical trials—while also improving the accuracy of test results. Nazem Atassi, MD, the Associate Director of the Neurological Clinical Research Institute (NCRI) at […]

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Genetic Insights, New Research Models Help to Drive New Rare Disease Research

While it may not have been called rare disease research by name, Massachusetts General Hospital has been identifying and tracking rare diseases for more than a century, says Florian Eichler, MD, Director of the Center for Rare Neurological Diseases in the Department of Neurology. In recent years, advances made by the Human Genome Project and […]

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