Rare Diseases South Africa (RDSA) held its annual Denim Walk at Walter Sisulu Botanical Garden on March 4. Family, friends, survivors, and sufferers turned lush green lawns into a sea of white cotton and blue denim. South Africa has just short of four million suffering from rare genetic and congenital...
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There are around 7,000 rare diseases that we know of today. Each of these conditions only affects a small number of people, but collectively, they impact a large population – estimated at 30 million people in the EU. Most rare diseases are severe and life-threatening. However, 95 percent of people...
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...
Georgia Uphill is four years old but has the mental age of an 18-month-old. She does not speak and needs help to walk. She hyperventilates and easily becomes anxious. Georgia, who lives in St Thomas, Exeter, with her mum Katie, dad Ben and seven-year-old brother William, has Rett Syndrome. She...
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...
QUT researchers have signed an agreement with US pharmaceutical company Quoin to fund a pre-clinical program at QUT to further research a potential treatment for a rare skin condition called Netherton Syndrome. Research will focus on Netherton Syndrome (NS), an hereditary autoimmune condition NS is characterised by skin inflammation, itchiness,...
RARE-X, a collaborative platform for patient-controlled data collection, global data sharing and analysis, is partnering with the Broad Institute of MIT and Harvard to advance and support the discovery of new treatments for 9,500 rare diseases, including Lambert-Eaton myasthenic syndrome (LEMS). The collaboration will leverage Broad Institute’s technology to assist in patient data collection...
Montreal, Canada – In Quebec, it is estimated that more than 500,000 people suffer from a rare disease, which is defined as a disease that affects less than one in every 2,000 citizens. Too often, affected patients and their families are left in the dark when it comes to finding...
BOSTON, Mass. — Ratio Therapeutics Inc. (Ratio), a pharmaceutical company employing innovative technologies to develop best-in-class radiopharmaceuticals for cancer treatment and monitoring, announced today that dosing of the first cohort has been completed in the ATLAS trial, a Phase 1/2 open-label study evaluating the safety, tolerability, and efficacy of the company’s lead...
Dublin, Ireland – Researchers in the School of Population Health at RCSI University of Medicine and Health Sciences have provided new evidence of the health benefits of weight loss efforts that lead to diabetes remission for type 2 diabetes patients. For participants in the weight-loss trial who were able to...