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).
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 […]
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 […]
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 […]
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 […]
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 needed […]
Mass General researchers recently published an article detailing a new treatment for a dangerous swelling condition called Hereditary angioedema.
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 […]