Bellingham, Washington – More than 50 million people worldwide live with epilepsy, with approximately half of them being children. For about one-third of these patients, medications do not control their seizures, leaving surgery as the only viable option for seizure relief. Seizures in 60 percent of these drug-resistant cases start...
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Cambridge, Mass. – Drug development is typically slow: the pipeline from basic research discoveries that provide the basis for a new drug to clinical trials to production of a widely available medicine can take decades. But decades can feel impossibly far off to someone who currently has a fatal disease....
Ottawa, Canada – How can someone have alcohol intoxication without consuming alcohol? Auto-brewery syndrome, a rare condition in which gut fungi create alcohol through fermentation, is described in a case study in CMAJ (Canadian Medical Association Journal) https://www.cmaj.ca/lookup/doi/10.1503/cmaj.231319. “Auto-brewery syndrome carries substantial social, legal, and medical consequences for patients and...
DURHAM, N.C. — The Rare Cancer Research Foundation (RCRF) is proud to announce an exciting collaboration with Spanios aimed at propelling the discovery and validation of groundbreaking therapeutic options for rare cancers. This partnership, facilitated through RCRF’s innovative initiative, Pattern.org, marks a significant step towards addressing the pressing need for...
Basel, Switzerland – The rare case of a man with Lambert-Eaton myasthenia syndrome (LEMS) that co-occurred with non-Hodgkin lymphoma, a type of immune cell cancer, was described in a recent report. “In this case report, we present the case of a 57-year-old male diagnosed with non-Hodgkin’s lymphoma (NHL) who developed...
The University of Colorado Anschutz Medical Campus celebrated the global Rare Disease Day on February 28 with an event that highlighted the campus’ strengths in diagnosing and treating rare diseases and explored a vision for creating a regional rare disease hub. Campus experts, hospital and community partners, patients, and families...
By Raffaele Pereno – PhD, MBA LISBON, Portugal – Nerai Bioscience, a biotechnology company spun out from the University of Zurich and ETH Zurich, is working to make gene editing therapies more efficient, more precise, and scalable for rare disease patients. By combining artificial intelligence, high-throughput protein engineering, and CRISPR-based...
London, UK – Patients with rare diseases could benefit from a “revolution” in clinical trials that could see one-stop studies designed that provide robust results even with small numbers of participants. The CAPTIVATE node is part of the recently introduced UK Rare Disease Research Platform established as part of a...
DURHAM, N.C. — Children born without thymus glands have given Duke University Medical Center researchers a rare opportunity to watch as a new immune system develops its population of infection-fighting T-cells. Researchers led by Thomas Kepler, Ph.D., Division Chief of Computational Biology, tracked three young patients after thymus tissue transplantation...
London, UK – Research led by Claudia Cooper, Professor of Psychological Medicine at Queen Mary University of London, shows that a new therapy, NIDUS-Family, helps people with dementia and their family carers attain their personal goals. The NIDUS-family package of care and support focuses on practical changes people can make, with sessions designed around the specific priorities of the...