News

Nominations to the EURORDIS Black Pearl Awards

14 September 2017

The nominations for the EURORDIS Black Pearl Award …

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New IRDiRC goals for 2027

10 August 2017

The International Rare Diseases Research Consortium (IRDiRC) has announces the new vision and goals: enable all people living with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention.

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Joanna Vella wins the JRC Malta Young Scientist Award

23 June 2017

We would like to congratulate Joanna Vella, the RD-Connect partner at the University of Malta, who won the JRC Malta Young Scientist Award in the rare diseases field!

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Registration open to the 5th International Summer School on Rare Disease and Orphan Drug Registries

1 June 2017

Register to the Summer School and/or Bring-Your-Own-Data workshop in Rome in September!

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Report from the EURORDIS Membership Meeting in Budapest

31 May 2017

This year’s meeting was special, as it coincided with EURORDIS’ 20th anniversary.

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E-Rare Workshop on Data Sharing and Harmonization

26 May 2017

On the 4th of May, E-Rare – ERA-Net for research programmes on rare diseases, organized in collaboration with RD-Connect a workshop allowing researchers to discuss the obstacles for data sharing and harmonization, and accustom to already available tools.

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Download the new RD-Connect flyer

18 May 2017

RD-Connect has released a new flyer giving an overview on the RD-Connect platform and promote it among researchers.

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RD-Connect annual meeting and Outreach Day in Berlin

5 May 2017

The RD-Connect annual meeting took place in Berlin on the 1-2 of May. During the two days, the project partners presented the project achievements from the last year.

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The official RD-Connect video

3 May 2017

RD-Connect has released several videos that promote different aspects of RD-Connect work.

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RD-Connect workshop in Bahrain

26 April 2017

An international scientific workshop on the 7-8th April 2017 at the Princess Al Jawhara Center in Manama aimed to discuss the mechanisms of preparing a national and Gulf registry for rare diseases and a Gulf plan to deal with rare diseases using international expertise

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Don’t miss out on training opportunities for scientists at the annual meeting in Berlin!

22 March 2017

As part of the joint RD-Connect, NeurOmics and EURenOmics annual meeting in Berlin (1-5th of May 2017) RD-Connect will provide a number of training opportunities for rare disease researchers. These sessions will take place on Wednesday 3rd May and are open to all.

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RD-Connect is on Facebook!

3 March 2017

The freshly launched RD-Connect Facebook page will complement the RD-Connect Twitter and allow to better engage with patient communities.

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Rare Disease Day

28 February 2017

As each year, the last day of February is the Rare …

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Lucia Monaco receives the EURORDIS Award

22 February 2017

Dr Lucia Monaco, the Chief Scientific Officer at Fondazione Telethon and a member of RD-Connect, has received the EURORDIS Scientific Award 2017 for cutting edge scientific developments.

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Rare Diseases Registries Workshop in Madrid

13 February 2017

Rare Diseases Registries Workshop on 21st-22nd March 2017 in Madrid will bring together all the key stakeholders in the development of rare disease registries.

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RD-Connect presentation at the IRDiRC 2017 conference in Paris

10 February 2017

Download Hanns Lochmüller’s talk on overcoming bottlenecks in rare disease research through data sharing infrastructure presented at the conference of the International Rare Diseases Research Consortium (IRDiRC).

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ELIXIR-EXCELERATE Rare Diseases Training Capacity & Needs Survey

8 February 2017

A survey prepared by ELIXIR Slovenia within ELIXIR …

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Registration for the Berlin joint project meeting is open!

2 February 2017

Registration for the joint RD-Connect, NeurOmics and EURenOmics Annual meeting in Berlin is now open.

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New RD-Connect Project manager

26 January 2017

As of January 2017 Emma Heslop has left the role of RD-Connect project manager to move onto a new role within the team in Newcastle. Libby Wood is now in post as Emma’s replacement.

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Update on the RD-Connect hackathons in 2016

19 January 2017

In 2016, RD-Connect has organized seven highly specialised hackathons focusing on developments of the RD-Connect platform for data exchange and analysis.

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RD-Connect four years on

3 January 2017

RD-Connect, the global research and infrastructure resource for rare diseases, has just passed its four-year mark, and significant progress has been made during the past year.

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Best Christmas wishes from RD-Connect!

22 December 2016

As Christmas and the New Year are upon us, RD-Connect would like to wish all the partners and newsletter readers a happy and joyful Christmas break.

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European Commission approves 23 European Reference Networks

17 December 2016

On 15th December the Board of Member States of ERN …

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United Nations inaugurate the NGO Committee for Rare Diseases.

4 December 2016

The NGO Committee for Rare Diseases is a UN’s global, multi-stakeholder initiative focusing on rare diseases. This is a major step to address the rare disease challenges on a global scale.

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The 3rd IRDiRC conference Paris

28 November 2016

The 3rd conference of the International Rare Diseases Research Consortium (IRDiRC) will take place on February 8-9, 2017 in Paris,.

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Elixir rare diseases data resources and tools survey

2 November 2016

Elixir Excelerate addresses the infrastructure needs of the rare disease community. Take part in the survey to help prioritize the most important bioinformatics tools and better adapt ELIXIR services to the requirements of the rare disease community.

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Rare disease patients: your chance to get involved in European Reference Networks

6 October 2016

All patient organisations are encouraged to join the European Patient Advocacy Groups to ensure that the patient voice is heard in the European Reference Networks.

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RD-Connect Panel for Biobank Assessment

30 September 2016

We are pleased to announce the formation of a panel of experts who will consider the biobanks against a set of criteria to ensure the minimum quality assurance is met.

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SMA Awareness Week

27 September 2016

The last week of September in the UK is dedicated to rising awareness of Spinal Muscular Atrophy (SMA), an inherited neuromuscular condition.

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RD-Connect guidelines for informed consent receive the “IRDiRC Recognized Resources” label

20 September 2016

The RD-Connect Guidelines for informed consent were acknowledged by IRDiRC as fundamentally important for the international rare diseases research.

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RD-Connect Newsletter has 1000 subscribers!

13 September 2016

In September 2016, the number of newsletter subscribers reached 1000! We would like to thank our readers for following our updates and being with us all that time.

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World Duchenne Awareness Day

7 September 2016

Contribute to raising awareness and supporting Duchenne patients and families by donating a Duchenne Balloon today.

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The mechanism of Spinal Muscular Atrophy found 20 years after the discovery of the causative gene

6 September 2016

Identifying the cellular mechanism can be a breakthrough in the therapy for SMA. Employing genetic modifiers might revolutionise the treatment and give hope for better quality of life for the patients.

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Next Cross-Project Annual Meeting in Berlin, 1st – 5th May 2017

16 July 2016

The next RD-Connect Annual Meeting will take place in Berlin from the 1st till the 3rd of May 2017 and will be held back-to-back with the joint NeurOmics and EURenOmics final meeting, scheduled for the 4th and 5th of May.

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RD-Connect has 1000 followers on Twitter

30 June 2016

Twitter helps us disseminate the news about RD-Connect’s achievements as well as other relevant information. We thank all of those who by retweeting help us reach broader audience.

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Statement from the Newcastle coordination office on the outcome of the British EU referendum

24 June 2016

The outcome of the British EU referendum will not affect RD-Connect in the near future. We will continue our work to support rare disease research.

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2016 BBMRI-LPC Whole Exome Sequencing Call

23 June 2016

The 2016 BBMRI – LPC Whole Exome Sequencing (WES) Call is offering a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.

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RD-Connect three years on

23 May 2016

The three FP7 flagship omics projects – RD-Connect, NeurOmics and EURenOmics – are just over three years old. At the end of 2015, each project submitted their third year progress reports to the European Commission presenting significant achievements and progress towards an integrated platform for data sharing. Here we report highlights from RD-Connect.

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Unraveling the genetic causes of hereditary ataxia and paraplegia using disease specific gene panels and next-generation sequencing

10 August 2015

The Institute of Medical Genetics and Applied Genomics in Tübingen has almost 8 years of experience in the field of next generation sequencing with a strong focus on diagnosing neurodegenerative diseases . For the identification of disease-causing mutations within the NeurOmics project, our aim is to examine 100 patients per disease group using a targeted gene panel approach based on Illumina NGS technology.

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RD-Connect Registry and Biobank Meeting (BYOD2)

5 August 2015

From 30 June to 2 July, RD-Connect Registries work package leader Domenica Taruscio and her team at ISS hosted the second “bring your own data” (BYOD) meeting in Rome. This meeting welcomed registry owners, biobank owners and data linkage experts with the main aim of the meeting to move closer towards the goal of linking data from these varied sources.

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RD-Connect genomic analysis platform is opened up for beta-testing

18 June 2015

The genomics side of the RD-Connect platform already includes over 360 exomes linked to detailed phenotypes stored in PhenoTips using the Human Phenotype Ontology

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Launch of Rare Diseases International, the Global Voice for Rare Disease Patients

10 June 2015

Over 60 patient representatives from 30 countries gathered for the official launch and inaugural meeting of Rare Diseases International (RDI), held at the recent EURORDIS Membership Meeting in Madrid

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RD-Connect, NeurOmics and EURenOmics at the ESHG European Human Genetics Conference 2015

29 May 2015

A number of partners and associated partners from RD-Connect, NeurOmics and EURenOmics will be presenting posters, talks and taking part in panel discussions during this year’s ESHG European Human Genetics Conference 2015, which is being held in Glasgow, Scotland (June 6-9, 2015). Further information about project specific activities is available here

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Data analysis and processing: creation of new bioinformatics tools in RD-Connect

5 May 2015

The rapidly increasing number of new omics projects is resulting in the generation of an unprecedented volume of data. These data are useless unless we can harness the power of sophisticated computer software – bioinformatics tools – to analyse, filter and interpret them. RD-Connect has a dedicated work-package, led by Christophe Béroud at Aix-Marseille University, which focuses on the development of bioinformatic tools. Partners in the collaborating projects NeurOmics and EURenOmics are also developing software tools and systems addressing aspects of relevance to their work.

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Updates from the 2nd RD-Connect and NeurOmics meeting (Palma de Mallorca, 2015)

13 March 2015

RD-Connect and NeurOmics held their annual meetings in Palma de Mallorca at the beginning of March 2015. Both meetings proved to be a great opportunity for project partners, associated partners and committee members to report on progress and achievements over the past year and to plan for future work.

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Attending the RD-Connect annual meeting: the patient perspective

12 March 2015

Last week, Oliver Timmis from the AKU Society attended the RD-Connect conference in Palma de Majorca. Oliver is a member of the Patient Advisory Council (PAC), a working group run by EURORDIS to provide patient input into the RD-Connect project. This week he writes about the topics covered at the conference, and the work being done by the project.

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PhD fellowships from Kindness for Kids foundation in collaboration with EuroBioBank and RD-Connect

27 February 2015

Kindness for Kids is a charitable foundation with the objective to improve the quality of life of children affected by rare diseases. The foundation announces a PhD fellowship to contribute to therapy development for rare paediatric diseases.

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Raise and Join your Hands to show Solidarity with People Living with a Rare Disease!

17 February 2015

Rare Disease Day 2015 will take place on 28th February. An official Rare Disease Day 2015 video – Bring People Living with a Rare Disease out of the Shadows and into the Spotlight – has been released to mark the event and many activities have been planned throughout the world. Find out how you can get involved…

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RD-Connect two years on

30 January 2015

The three FP7 flagship omics projects – RD-Connect, NeurOmics and EURenOmics – are just over two years old. At the end of 2014, each project submitted their second year progress reports to the European Commission highlighting significant achievements and progress towards an integrated platform for data sharing.Here we report highlights from RD-Connect

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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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Concerns raised over draft of EU data protection regulation

25 February 2013

A large group of patient organisations and research consortia involved in the rare disease field has today released a public statement expressing deep concern over a draft of the the proposed new legal framework for the protection of personal data in the EU, the so-called Data Protection Regulation. It is feared that if the regulation is passed by the European Parliament in the wording released on 16 January 2013 by Jan Philipp Albrecht (Greens/European Free Alliance, Germany), this could spell the end of progress in health research in Europe, in particular the end of research into rare diseases.

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Fighting Rare Diseases: 38 million EUR for rare disease research

24 January 2013

A multi-million Euro initiative is bringing together researchers from across the world to develop new diagnostic tools and new treatments for people with rare diseases and to connect research data in this area on a global scale. The EU has announced 38 million Euro funding for research towards new treatments and for the development of a central global rare disease hub involving 70 institutions that will allow scientists to share data from their genomics research projects. This will lead to faster diagnosis and better treatments and improve the quality of life for patients with rare diseases.

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