28 February 2014   ●   Issue 5

Happy Rare Disease Day 2014!

Today marks the 7th annual Rare Disease Day and we hope you are doing something special to mark the occasion! 

Launched in 2008 and coordinated by EURORDIS and its Council of National Alliances, Rare Disease Day 2014 is a global event which reaches hundreds of thousands of people, resulting in a mass of local and national media cover. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. This year's  theme encourages everyone in the rare disease community to Join Together for Better Care.

An official Rare Disease Day 2014 video has also been launched. The "care" theme of this year's video shows the many ways the different facets of care have an impact on people living with a rare disease and their families. To find out how you can get involved in this year's Rare Disease Day events click here.

RD-Connect, Neuromics and EURenOmics raise their hands for Rare Disease Day 2014

It has become somewhat of a tradition for those involved in the rare disease field to demonstrate unity with patients and families by uploading photographs for the 'Raise and Join Your Hands' campaign for Rare Disease Day. During the opening session of the RD-Connect, Neuromics and EURenOmics Joint Projects Meeting in Heidelberg earlier this week, Paul Lasko, the current chair of the International Rare Diseases Research Consortium, asked its nearly 300 participants to raise their hands for rare disease. Highlights and updates from the Joint meeting will soon be available on the project websites and in next month's RD-Connect newsletter.

To show your own support for Rare Disease Day, record your event and upload your photograph here.

PhenomeCentral "matchmaking" web portal launched on Rare Disease Day

A new online system to match up patients with similar genotypes and phenotypes is being launched today. PhenomeCentral aims to connect clinicians and scientists worldwide with others working on similar cases and thereby speed up the discovery of genes responsible for rare disorders. Data in the RD-Connect system will also be "matchable" through PhenomeCentral.

In a press release, co-lead Michael Brudno, an associate professor with the University of Toronto’s Department of Computer Science who also holds an appointment in the Centre for Computational Medicine at the Hospital for Sick Children explains how the new portal will work. "PhenomeCentral securely stores clinical and genetic information on patients with undiagnosed rare diseases. Clinicians will upload information and the database will automatically and anonymously match patients with similar genome and phenotypes."

Rare disease research is conducted in disparate centres all over the world, but the rarity of the conditions makes it imperative for researchers to collaborate across national boundaries to solve their undiagnosed cases. "Being able to 'plug in' a tool like PhenomeCentral to our data-sharing platform means that we can make use of the power of its match-making abilities to find similar patients and advance research," said RD-Connect coordinator Hanns Lochmüller.

PhenomeCentral is funded by the Canadian Institutes of Health Research (CIHR), Genome Canada, the Ontario Genomics Institute, as well as the National Sciences and Engineering Research Council (NSERC) through the Collaborative Health Research Program. For further information and to read the full press release click here.

Cornerstones for an ethically and legally informed practice of Whole Genome Sequencing

The Marsilius-Kolleg funded Ethical and Legal Aspects of Whole Genome Sequencing (EURAT) project focuses on issues of total genome sequencing and brings together scholars from Heidelberg University, the Heidelberg University Hospital, the German Cancer Research Center (DKFZ), European Molecular Biology Laboratory (EMBL), the Max Planck Institute for Comparative Public Law and International Law and the Research Center for Health Economics at the Hannover University. 

For over two years, the EURAT project have been working on questions concerning normative and legal issues related to whole genome sequencing. A position statement has recently been made public and a code of conduct for non-physician scientists involved in whole genome sequencing has been officially adopted by the senate of the University of Heidelberg as well as the scientific council and board of directors of the German Cancer Research Centre. Further  information about the EURAT project and  the position statement can be found 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

Topics:
- 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.

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