10 February 2014   ●   Issue 4

RD-Connect: a year in review

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.

RD-Connect has published its annual update, which provides further information on its progress towards creating a central resource for researchers working on rare disease and its efforts towards a culture of data sharing for the benefit of the broader research community. For full details see the news item on the RD-Connect website.

Keynote lectures announced for joint project meeting in Heidelberg

The joint project meeting between RD-Connect, Neuromics and EuRenOmics will take place in Heidelberg, Germany from Sunday 23rd until Wednesday 26th February 2014.

A full agenda of discussions on topics including bioinformatics, biobanks and gene discovery has been planned, in addition to project-specific sessions, posters and training workshops. We are also pleased to announce that the chair of the International Rare Diseases Research Consortium's Executive Committee, Professor Paul Lasko of McGill University in Montreal, will give a keynote lecture on IRDiRC activities, achievements and future plans. Additional keynotes focusing on the science of the Neuromics and EURenOmics projects will be provided by Dr Annemieke Aartsma-Rus (Leiden University Medical Center) and Professor Corinne Antignac (Hôpital Necker, Paris).

For further information please contact Emma Heslop

RD-Connect welcomes new associated partners

To improve integration and reduce duplication of effort, RD-Connect has actively engaged with other groups involved in related activities across the world. As well as becoming part of the Global Alliance for Genomics and Health and working closely with the Human Phenotype Ontology, RD-Connect has brought in several groups as new associated partners to formally recognise their collaboration with RD-Connect:

  • Kym Boycott, Children's Hospital of Eastern Ontario and Care4Rare project, Ottawa, Canada
  • Michael Brudno, Toronto Hospital for Sick Children and PhenoTips and PhenomeCentral, Toronto, Canada
  • Andrew Devereau, National Genetics Reference Laboratory, St Mary’s Hospital, Manchester, UK
  • Morris Swertz, The Genomics Coordination Center, Groningen, The Netherlands

2013 Golden Helix Symposium - 5th Pan-Arab Human Genetics Conference Report

The joint 2013 Golden Helix Symposium - 5th Pan Arab Human Genetics conference and “Genomics into Healthcare” was co-organized by the Center for Arab Genomic Studies in collaboration with the Golden Helix Foundation in Dubai, United Arab Emirates from 17-19 November, 2013. The meeting was attended by over 900 participants representing over 50 countries and was organized into a series of nine themed sessions that covered cancer genomics and epigenetics, genomic and epigenetic studies, genomics of blood and metabolic disorders, cytogenetic diagnosis and molecular profiling, next generation sequencing, consanguinity and hereditary diseases, clinical genomics, clinical applications of pharmacogenomics and genomics in public health.

In an effort to expand the outreaching activities of RD-Connect in the Middle East, a dedicated 75-min RD Connect workshop was organised. The workshop was moderated by Prof. George Patrinos, who also gave a lecture together with Prof. Milan Macek and Prof. Olaf Riess. Prof. Riess gave a thorough overview over the aims and goals of Neuromics, the structure of the consortium and its achievements during the first year of the project. Subsequently, Prof. Macek presented the various initiatives for rare disorders in Europe, including the experience of the European Society of Human Genetics (www.eshg.org) and OrphaNet (www.orpha.net). Finally, Prof. Patrinos presented the outline of the aims and goals of RD-Connect and focused on the principle of microattribution to encourage genomic data submission in data repositories by the research community. All three lectures nicely complemented those from the other sessions, particularly those dealing with genomics of rare disorders.

Each talk was followed by lively discussions and questions from the audience. Also, there was a keen interest from senior participants to establish collaborations with RD-Connect partner institutions. Last but not least, the workshop was highlighted in the media, namely national newspapers and the Dubai Radio1.

The overall impression was that the organisation of the RD-Connect workshop during the joint 2013 Golden Helix Symposium - 5th Pan Arab Human Genetics conference fulfilled its goals, not only by providing a highly valuable opportunity for Arab scientists to join forces with international geneticists in order to accelerate the advancement of human genetics worldwide but also by expanding the outreach activities of the RD-Connect consortium to Arab countries.

To this end, the organization of a similar workshop at the forthcoming 2014 Golden Helix Symposium in Belgrade, Serbia (October 2-4, 2014) with the theme “Personal Genomics and Rare Disorders” might also constitute an opportunity to strengthen collaboration and outreach activities with the Balkan countries.

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

RARE-Bestpractices is a four-year project (January 2013-December 2016) funded by the Seventh Framework Programme of the European Union, and coordinated by RD-Connect partner the National Centre for Rare Diseases of the Istituto Superiore di Sanità (ISS). The project aims to improve the clinical management of rare diseases and is shaped by advisers who bring a broad range of perspectives from across the world.

The RARE-Bestpractices project stems from the international requirement of increasing and sharing knowledge on rare diseases to improve healthcare for rare disease patients. The project is developing a comprehensive and updated platform to facilitate cooperation between scientists, experts and institutions in the area of best practice guidelines, health technology assessments and horizon scanning to improve the healthcare management of patients.

For more information about the RARE-Bestpractices project and to sign up to their newsletter, please visit their homepage here.


Upcoming events

For further information on future events please visit the events page on the RD-Connect website.

Rare Disease Day 2014

28 February 2014, worldwide

The seventh international Rare Disease Day coordinated by EURORDIS will take place around the globe. On and around this day hundreds of patient organisations from more than 70 countries and regions worldwide are planning awareness-raising activities around the slogan "Join Together for Better Care"

Genomic Disorders 2014: The Genomics of Rare Diseases

5-7 March 2014, University Arms Hotel, Cambridge, UK

Genomic Disorders 2014 will discuss the latest findings on the genomic basis of rare disorders as these can provide such powerful insights into human biology. Genome-wide analyses, including array Comparative Genomic Hybridization (aCGH) and Whole Exome Sequencing (WES), have been invaluable in discovering the genetic basis of rare disorders and illustrate the heuristic power of humans as a pioneering organism rather than just another model organism. The meeting will focus on how human genome analysis can best assist future clinical practice and patient care. A particular emphasis of this year’s meeting will be on genomics in reproductive medicine, modelling rare disorders in animal models and cells, and interpreting genomic variants in rare diseases. 

2nd International Congress on Research of Rare and Orphan Diseases RE(ACT) Congress 2014

5-8 March 2014, Gehry building, St. Johann, Basel, Switzerland

The 2nd international congress on research or rare and orphan disease will be held in the Gehry building on the Novaris Campus in Basel, Switzerland. The conference sessions will explore issues and cutting-edge technologies that affect many adult and pediatric conditions. The aim of the meeting is to promote research on rare and orphan diseases among the general public, industry and policymakers as well as to provide a forum for researchers to meet and pool their knowledge. The underlying objective is to tackle the key issues that need to be addressed if we are to see new and promising therapies and treatments rapidly delivered to patients all around the world.

EPIRARE workshop: national registries of rare disease

5 March 2014, Istituto Superiore di Sanità, Rome, Italy

- Current National Registries of Rare Diseases (where, what, who, how)
- Institutional initiatives preparing for registries
- The role of Registries in the national plans/strategies
- Integration with NHS

The discussion will focus on :
- Exchange of experiences
- Opportunities for capacity building

ACMG Annual Clinical Genetics Meeting

25 -29  March 2014, Music City Center and the Omni Nashville Hotel, USA

The ACMG Annual Clinical Genetics Meeting – sponsored by the American College of Medical Genetics and Genomics (ACMG) is the scientific meeting you cannot afford to miss in 2014! This premiere gathering of the leaders in the field of genetic and genomic medicine will provide genetics professionals with the opportunity to learn how genetics and genomics are being integrated into your medical or clinical practice. Join your colleagues from around the world who are working to apply research in genetics and the human genome to the diagnosis, management, treatment, discovery and prevention of genetic conditions and both rare and common diseases.

7th European Conference on Rare Diseases and Orphan Products

8-10 May 2014, Berlin, Germany

The three-day European Conference on Rare Diseases and Orphan Products (ECRD) will provide an opportunity for patients, policy makers, healthcare professionals, industry, payers, regulators, researchers and academics working in the rare disease field to meet and exchange information and ideas. With over 100 speakers and numerous professionals in attendance, the annual conference will cover the latest research, developments in new treatments and information regarding innovations in health care, social care and support at both the European and national levels.

Why did I get this email?

You received this email because you are associated with RD-Connect, EURenOmics or Neuromics or because you signed up online. We will send out around one email per month with news of relevance to these projects and to IRDiRC. If you don't want to receive any further newsletters, you can unsubscribe using the link below. If you're reading this online or if it was forwarded by a friend, you can sign up to future editions here.