MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration) is a search engine that collects data from a number of human genomics and model organism genetics databases and displays it in a rapid user-friendly format. It was created in 2017 by a group of researchers in the Undiagnosed Disease Network at Baylor College of Medicine as […]
Read MoreThe International Rare Diseases Research Consortium (IRDiRC)’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is a compilation of information published in scientific journals and press releases over the period of September 2015 to June 2018. The report aims to inform stakeholders at large of developments in the field of […]
Read MoreThe Chair of the Consortium Assembly, Dr Lucia Monaco, has been recently interviewed by Raconteur for its Rare Diseases Report published by The Times – The Sunday Times- on its July edition. Dr Monaco interview was one of the nine articles chosen for this focus and she well highlighted the relevance of “the fight for equal access […]
Read MoreThe Interdisciplinary Scientific Committee (ISC) is establishing a Task Force on Clinical Research Networks for Rare Diseases aiming to map and analyse the existing ecosystem of national/supranational clinical research networks, and develop policy recommendations on guiding principles for an international framework of collaboration of these networks. The ISC is looking for members to populate this […]
Read MoreWe are pleased to announce the election of Dr Durhane Wong Rieger, President & CEO of the Canadian Organization for Rare Disorders (CORD), as the Chair of the Patient Advocacy Constituent Committee (PACC). Durhane Wong Rieger, PhD, is the President & CEO of the Canadian Organization for Rare Disorders (CORD). She is also the President & […]
Read MoreThe Diagnostic Scientific Committee (DSC) is establishing a Task Force on to address barriers to the diagnosis of rare diseases for Indigenous peoples, so as to help address critical areas that will need to be served if IRDiRC Goal 1 is to be met. The Indigenous Population Task Force will bring together the community addressing this challenge […]
Read More“We call for a global moratorium on all clinical uses of human germline editing — that is, changing heritable DNA (in sperm, eggs or embryos) to make genetically modified children”. With this opening sentence in a commentary published this week on Nature, Eric Lander and a group of eminent scientists and bioethicists request an international governance […]
Read MoreThe International Rare Diseases Research Consortium support Rare Disease Day 2019! The recent elected Chair and Vice Chair of IRDiRC, Dr Lucia Monaco and Dr David Pearce, and the accompanying Scientific Secretariat raise their hands for the cause during a meeting at the Italian Telethon Foundation dedicated to set the consortium strategy for achieving its goals […]
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Dimply dummy text of the printing and typesetting industry. Lorem Ipsum has been the industry’s standard dumy text ever since the 1500s, when an unknown printer took a galley of type and scrambled it to make a type specimen book. It has survived not only five centuries.imply dummy text of the printing and typesetting industry […]
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