It's likely that few people had heard of frontotemporal dementia until earlier this year, when the family of actor Bruce Willis announced the 68-year-old had been diagnosed with the condition.
Nov 8, 2023
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Many hidden genetic variations can be detected with Chameleolyser, a new method developed in Nijmegen. The information is already yielding new patient diagnoses and may also lead to the discovery of as yet unknown disease ...
Nov 1, 2023
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In two publications in Nature Reviews Drug Discovery, Anneliene Jonker (TechMed Center) highlights the importance of health care for rare diseases, and the innovation needed in that. The personalized medicine program manager ...
Oct 25, 2023
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In a major step toward untangling the genetic complexities of rare diseases, KAUST researchers have unveiled an innovative AI-based tool that leverages varied symptom descriptions, along with evidence from the scientific ...
Oct 10, 2023
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Research published in Nature provides new insight into human disease by studying how rare changes in genes affect proteins found in human blood, called plasma proteins. Findings revealed thousands of never-before-identified ...
Oct 9, 2023
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The German Institute for Quality and Efficiency in Health Care (IQWiG) has responded critically to a reflection paper by the European Medicines Agency (EMA) on the approval of new drugs based on single-arm studies.
Oct 6, 2023
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A team of researchers led by Professor Megumu K. Saito have undertaken a massive effort to build an induced pluripotent stem (iPS) cell resource for rare diseases, enabling research and development of novel diagnostic tools ...
Oct 5, 2023
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Swiss pharmaceutical giant Novartis on Monday reported positive interim Phase III results for a new drug being studied to treat a rare kidney disease.
Oct 2, 2023
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A multisite, international phase 2 trial evaluating the investigational drug garetosmab has shown that it reduced soft-tissue flare-ups significantly and prevented new areas of abnormal bone formation in patients with fibrodysplasia ...
Sep 28, 2023
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There are still many enigmas about the mechanism of action of the CERKL gene, which causes retinitis pigmentosa and other hereditary vision diseases. Now, a team from the University of Barcelona has described how the lack ...
Sep 18, 2023
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