Mass General’s Marian DiFiglia, PhD, is working to advance research on the rare genetic mutation that affects her grandson.
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Rare diseases can be very complex to treat due to lack of understanding, little to no options for treatment and limited funding.
Rare diseases can be very complex to treat due to lack of understanding, little to no options for treatment and limited funding.
Amanda Furness, PhD Amanda Furness, PhD, is a postdoctoral research fellow in the Center for Genomic Medicine at Massachusetts General Hospital. Her poster, Therapeutic insight into Mucolipidosis IV via in vitro glia models, recently won an award at Mass General’s Research Fellow Poster Celebration. We asked Dr. Furness about her research: What problem(s) are youRead more
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.
In this series we highlight Mass General investigators who have recently received awards or honors for their scientific achievements.
Earlier this week, the Mass General Neurological Clinical Research Center (NCRI)’s NeuroBANK™ won Bio-IT World‘s Best Practice award in the Personalized & Translational Medicine category. What is the NeuroBANK, and how is it helping to accelerate the discovery, development, and delivery of future treatments for rare diseases including amyotrophic lateral sclerosis (ALS)? Filling a NeedRead more
Florian Eichler, MD 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 HumanRead more
Fifty years ago, a cystic fibrosis (CF) diagnosis was like receiving a death sentence. Most children with CF did not live past the age of 10. Thanks to heavy investment and advancements in medical research, children diagnosed with CF after the year 2000 are expected to live into their 50s. However, more research is neededRead more
