Rare Disease Biobanks are invited to publish their collection the RD-Connect Catalogue

10 December 2014

Access to high-quality biological materials is essential for research on rare diseases. The new RD-Connect Catalogue of rare disease biological samples aims to unite rare biomaterials by facilitating sample search, and creating a strong network of rare disease biobanks in Europe. The sample catalogue, together with patient databases and clinical bioinformatics, is one of the three essential assets of the RD-Connect integrated platform.

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Landmark publication: international charter of principles for sharing bio-specimens and data

30 September 2014

To improve health care and validate research there is a need to provide easier but also secure and ethical access to samples and data. This is the guiding principle in a new charter for the sharing of biospecimens and data published by an international group of researchers in this month’s European Journal of Human Genetics.

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RD-Connect Publications

4 September 2014

Over the past year, more than 30 articles citing or acknowledging RD-Connect have been published in journals such as Nature Reviews Genetics, The Lancet Oncology and the European Journal of Human Genetics. Articles range from basic research to policy and ethical, legal and social Issues and can be found in the Scientific Publication area of the RD-Connect website.

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NeurOmics project reaches a significant milestone in its data-sharing plans

16 July 2014

NeurOmics is a consortium of European and worldwide experts in neuromuscular and neurodegenerative conditions, bioinformatics and –omics technologies. NeurOmics is providing some of the first data to be integrated into the RD-Connect platform and this process is now well underway with the first steps on the road to data-sharing being taken. In order to achieve the desired aims of sharing data within the NeurOmics consortium and then more widely with RD-Connect, partners across NeurOmics have agreed and signed up to a data-sharing policy which both protects patient confidentiality and allows secure flow of data between those who need access in order to advance research into rare disease.

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Second RD-Connect jamboree focuses on variant calling and analysis

2 July 2014

From 30 June to 2 July 2014 Christophe Béroud’s team from Aix-Marseille University Medical School hosted 30 participants from Europe, the USA and Australia for the second RD-Connect data analysis jamboree. This year’s event focused on whole exome sequencing variant analysis, in particular the development of a standard variant calling pipeline and the methods for analysis and prioritisation of variants towards finding causative mutations.

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First partner meeting of the Global Alliance for Genomics and Health shows strength of international efforts in data sharing and standards across rare disease and cancer

4 March 2014

RD-Connect is excited to be participating in the inaugural partner meeting of the Global Alliance for Genomics and Health, taking place at the Wellcome Trust offices in London, UK. The Global Alliance aims to accelerate the world-wide effort to responsibly aggregate and analyze large amounts of genomic and clinical information – seeking best practices where they exist, and developing new approaches where needed – in order to advance the understanding, diagnosis, and treatment for cancer, inherited diseases, infectious diseases, and drug responses.

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PhenomeCentral “matchmaking” portal launched on Rare Disease Day

28 February 2014

A new online system to match up patients with similar genotypes and phenotypes is being launched on Rare Disease Day. PhenomeCentral connects clinicians and scientists worldwide with others working on similar cases and thereby speeds up the discovery of genes responsible for rare disorders. Data in RD-Connect will also be “matchable” through PhenomeCentral.

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RD-Connect one year on

31 January 2014

The three linked projects funded by the European Commission as flagship “omics” research projects under the International Rare Diseases Research Consortium are now just over a year old. As they gear up for their annual joint meeting, RD-Connect, Neuromics and EURenOmics are also reflecting on their achievements in their first year of operation and planning their next steps. For RD-Connect, the primary focus of the year has been on ensuring that the project is aligned with the needs of researchers submitting data to the system, and on developing interoperability with tools and projects operating in the same area.

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Working together on open standards and interoperability: RD-Connect joins Global Alliance for sharing genomic and clinical data

21 June 2013

RD-Connect has joined over 70 institutions across the world in signing up to the Global Alliance, a new initiative to encourage sharing of linked genetic and clinical data. Inspired by the examples of the World Wide Web Consortium and the Human Genome Project, the Alliance aims to accelerate progress in medicine by encouraging widespread access to research data. Its goal is to bring together the research, clinical, and disease advocacy communities and the private sector to create an information platform that is open and accessible and provides common standards, formats and tools to stakeholders in the genomic research community. The goals of the Alliance are very much in line with those of RD-Connect, which has specific tasks dedicated to data sharing infrastructure, bioinformatics tool development, ethics, patient engagement, informed consent and the regulatory environment.

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Enabling data sharing: two publications highlight ethical and legal questions to be addressed

18 June 2013

The rare disease community is currently debating the ongoing reform of the EU Data Protection Regulation and other topical questions relating to consent and privacy safeguards in medical research. In light of this, two short articles by RD-Connect partners have been published. These discuss the importance of maintaining the exception for research data in the data protection regulation, and propose a simplified, risk-based ethical review procedure. These recommendations would enable the continuation of data sharing and make the ethical process for information-based research more straightforward.

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