Posts Tagged ‘rare diseases’
From Gene Discovery to Patient Impact: A Conversation with Susan A. Slaugenhaupt, PhD
Susan A. Slaugenhaupt, PhD, investigator at Mass General Brigham and president of the American Society for Human Genetics, reflects on more than 30 years of genetics research, from identifying genes linked to rare diseases to advancing new therapies for patients. She discusses breakthroughs in genomics, the future of precision medicine, and how patients and families continue to inspire her work.
Read MoreRare Diseases Day: Q&A with a Mass General Investigator
Vanessa Merker,PhD, has spent her 14-year career at Mass General working to improve care for patients with schwannomatosis and NF2.
Read MoreHow a Chance Encounter Led One Mass General Researcher on a Decade-Long Journey of Discovery
What started as an investigation into a rare skin disease led one researcher to new insights about kidney formation and function.
Read MoreRare Light Sensitivity Disorder Could Affect More People than Previously Thought
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.
Read MoreResearcher 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.
Read MoreRare 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.
Read MoreRare 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.
Read MoreNew 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.
Read MoreOnline 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…
Read MoreGenetic 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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