Tag: rare disease research

Looking for Insights to A Rare Genetic Neurologic Disease

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 you addressing with this ...

Research Awards and Honors: May 2018

Massachusetts General Hospital’s talented and dedicated researchers are working to push the boundaries of science and medicine every day. In this series we highlight a few individuals who have recently received awards or honors for their achievements: M. Amin Arnaout, MD, chief emeritus of the Division of Nephrology and director of the Leukocyte Biology and ...

Online Platform Accelerates Rare Disease Research

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 Need ...

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 ...

Could Controlling Inflammation Improve Cystic Fibrosis Therapies?

Today, February 28th, is the 11th annual International Rare Disease Day. This is a day for every member of the rare disease community—patients, caregivers, and researchers—to join together on behalf of all of those suffering with a rare disease. In this blog post we highlight one Massachusetts General Hospital researcher who is tackling rare disease. Fifty ...

Monoclonal y-shaped antibodies

Five Things To Know: New Therapy for Dangerous Swelling Disorder

Researchers from the Massachusetts General Hospital Division of Rheumatology, Allergy and Immunology recently came out with a study published in New England Journal of Medicine. Here are five things to know: Hereditary angioedema (HAE) is a rare but serious condition passed down through families. HAE affects the blood vessels and is caused by a low level or improper function of ...

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Teaming Up to Find Treatments for Rare Diseases

What is the fastest way to develop new treatments for patients with rare diseases? In a word, teamwork. That was the consensus that emerged from an hour-long panel discussion on rare disease research hosted by the Division of Clinical Research at Massachusetts General Hospital last month. “By their very definition, rare diseases have limited resources and we all ...