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Rare Diseases Day: Q&A with a Mass General Investigator

By Brian Burns | Neurology | 0 comment | 29 February, 2024 | 0

Vanessa Merker,PhD, has spent her 14-year career at Mass General working to improve care for patients with schwannomatosis and NF2.

How a Chance Encounter Led One Mass General Researcher on a Decade-Long Journey of Discovery

By Brian Burns | Dermatology | 0 comment | 27 February, 2024 | 0

What started as an investigation into a rare skin disease led one researcher to new insights about kidney formation and function.

Image of a sun-saturated garden

Rare Light Sensitivity Disorder Could Affect More People than Previously Thought

By Brian Burns | Medicine | 0 comment | 17 December, 2020 | 0

For patients with rare diseases, finding the right diagnosis can be a significant challenge. When the disease has no visible symptoms, the challenge becomes even greater.

Researcher Studies Grandson’s Rare Genetic Mutation

By Gloria Rosado | Genetics & Genomics, Neurology, Pediatrics | 0 comment | 14 November, 2019 | 0

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

Rare Disease Day 2019: Neuromyelitis Optica

By Gloria Rosado | Events, Neurology | 0 comment | 28 February, 2019 | 0

Rare diseases can be very complex to treat due to lack of understanding, little to no options for treatment and limited funding.

Rare Disease Day 2019: Neuromyelitis Optica

By Gloria Rosado | Events, Neurology | 0 comment | 28 February, 2019 | 0

Rare diseases can be very complex to treat due to lack of understanding, little to no options for treatment and limited funding.

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

By Brian Burns | Imaging & Radiology, Neurology | 0 comment | 31 May, 2018 | 0

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.

Online Platform Accelerates Rare Disease Research

By Brian Burns | Neurology | 0 comment | 18 May, 2018 | 1

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

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

By Brian Burns | Genetics & Genomics, Neurology | 1 comment | 23 April, 2018 | 0

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

Could Controlling Inflammation Improve Cystic Fibrosis Therapies?

By Brian Burns | Neurology, Rheumatology & Immunology | 0 comment | 28 February, 2018 | 0

 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

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