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 a one-stop data collection tool to facilitate the use of public genetic resources to prioritize rare human gene variants for study in model organisms. The manuscript describing this resource was selected as one of the top 10 papers published that year in the American Journal of Human Genetics . MARRVEL is available online at http://marrvel.org, and is continuously updated to integrate new useful databases as they become available.
The 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 rare diseases and support decisions of policy makers and research funders, as well as to inform the rare diseases community of the achievements and observed trends which shape the future of research and development for rare diseases.
The 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 to rare disease treatment” for all rare diseases patients, especially for those living in developing countries or rural regions.
The 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 Task Force with the below expertise in one or more of the following areas:
- Clinical research network coordination
- CRN clinical/research practice
- Clinical data sharing and reuse for research
- Establishment of good clinical practices
- International rare disease policy and regulatory issues
- Patient advocates
- Research funders
The usual time commitment includes quarterly 1-hour teleconferences, one face-to-face workshop (1-2 days), and regular email correspondence.
If you are interested in taking part in this activity, please send a CV, biosketch and letter of motivation (one paragraph each) to the Scientific Secretariat before May 20, 2019.
Importantly, do not forget to add in the subject of your email the reference of the project (Ref: TF-ISC-CRN).
Only selected candidates will be contacted. Other applications will be kept for potential future use.
We 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 & CEO of the Institute for Optimizing Health Outcomes (Canada), Chair of the Consumer Advocare Network and Chair of Canadian Heart Patient Alliance.
Additionally, Dr Durhane is involved in many international projects on rare diseases. She serves as Chair of the Council for Rare Disease International, member of the Steering Committee of the UN NGO Committee for Rare Diseases, Board member of Asia Pacific Rare Disease International, member of the Editorial Board of The Patient- Patient Centred Outcomes Research, member of the Global Commission to End the Diagnosis Odyssey for Rare Diseases and member of Health Technology Assessment International Patient /Citizen Involvement Interest Group.
She takes over the Chair position from Sharon Terry, President and CEO of Genetic Alliance, who continues as member of IRDiRC’s Patient Advocacy Constituent Committee.