The Interdisciplinary Scientific Committee (ISC) is establishing a Task Force on Shared Molecular Etiologies Underlying Multiple Rare Diseases aiming to address and document the existing challenges in adapting the basket trial approach used in molecularly targeted oncology clinical trials to drugs targeting shared molecular etiologies underlying multiple rare diseases. The Task Force will identify how […]
Read MoreThe Diagnostics Scientific Committee (DSC) is establishing a Task Force on the Integration of New Technologies for the Diagnosis of Rare Diseases. This activity proposes to identify the most clinically beneficial combination(s) of metabolomic and genomic tests coupled with artificial intelligence methodologies, which would then be prioritized for development of diagnostic standards. This will ultimately […]
Read MoreThe Diagnostics Scientific Committee (DSC) is establishing a Task Force on the Integration of New Technologies for the Diagnosis of Rare Diseases. This activity proposes to identify the most clinically beneficial combination(s) of metabolomic and genomic tests coupled with artificial intelligence methodologies, which would then be prioritized for development of diagnostic standards. This will ultimately […]
Read MoreWe are pleased to announce that FDA will be holding a virtual public meeting on Friday, March 5, 2021, from 9:00 a.m. to 4:00 p.m. EST to highlight strategies to support rare disease product development. Please visit the public meeting page to register for the event, https://www.fda.gov/news-events/fda-meetings-conferences-and-workshops/public-meeting-fda-rare-disease-day-2021-03052021-03052021 To learn more about other activities relevant to rare diseases […]
Read MoreWe are pleased to announce that FDA will be holding a virtual public meeting on Friday, March 5, 2021, from 9:00 a.m. to 4:00 p.m. EST to highlight strategies to support rare disease product development. Please visit the public meeting page to register for the event, https://www.fda.gov/news-events/fda-meetings-conferences-and-workshops/public-meeting-fda-rare-disease-day-2021-03052021-03052021 To learn more about other activities relevant to rare diseases […]
Read MoreNovember 9th 2020 The International Rare Diseases Research Consortium (IRDiRC) and The
Read MoreNovember 9th 2020 The International Rare Diseases Research Consortium (IRDiRC) and The BLACKSWAN Foundation alongside with the European Joint Programme on Rare Diseases (EJP RD) are hosting a joint online event IRDiRC Conference and RE(ACT) Congress 2021 from 13th to 15th January. This joint online event will continue the IRDiRC Conference series (4th edition) and the RE(ACT) Congress series (6th edition). […]
Read MoreAugust 25th 2020 GEnome Medical alliance Japan (GEM Japan), a Driver Project of the Global Alliance for Genomics and Health (GA4GH), has released GEM Japan Whole Genome Aggregation (GEM-J WGA)
Read MoreAugust 25th 2020 GEnome Medical alliance Japan (GEM Japan), a Driver Project of the Global Alliance for Genomics and Health (GA4GH), has released GEM Japan Whole Genome Aggregation (GEM-J WGA) — a first-of-its-kind open-access variant frequency panel of 7,609 Japanese whole genome sequences. Researchers at GEM Japan detected >76M autosomal single nucleotide variations（SNV) and >10M autosomal insertion and deletion (INDEL) […]
Read MoreAugust 19th 2020 New paper from Dr Gareth Baynam and other authors on diagnostics in rare diseases focused on Indigenous and other minority population groups has recently published by The American Journal of Human Genetics. The scientific article was focused on genomic research done to collect knowledge about pathogenic DNA variants in people with not […]
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