September 2014  ●   Issue 8


Publication highlights: international charter of principles for sharing bio-specimens and data

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. 

In theory, data sharing stimulates research, making the process less burdensome. However, the ethical and legal frameworks in different countries sometimes contradict each other making collaboration difficult. 

Lead author and RD-Connect partner, Deborah Mascalzoni, philosopher at the Centre for Research Ethics & Bioiethics (CRB) at Uppsala University believes another reason for these difficulties is the investment it takes to build a sample collection. “Sometimes researchers are not that keen on sharing. There is a fear that the valuable work they have put into their sample collection will not be recognized. To try and solve that problem, we have provided a framework for recognition in the charter”, says Deborah.

The charter conforms with relevant regulation, both legal and ethical, and provides a comprehensive tool for researchers. It specifically deals with consent, data quality and criteria for acknowledgement. It also provides a very hands-on tool: data and material sharing agreements are often written in a legal language that can be difficult to understand for the scientists and administrators that use them. To help solve this, the charter provides a clear and simplified template. The principles outlined in this charter can be used as a guide for the development of other access agreements.

The charter is built on existing consensus documents and position statements. It has also been informed by stakeholder workshop's in Brussels and Rome with rare disease patient representatives, lawyers, ethicists, industry representatives and scientists.

In summary the charter:

• Contains a template for both Material (MTA) and Data (DTA) Transfer Agreements.

• Provides a framework for the acknowledgement of biospecimen and data collections.

• Incorporates all relevant international legal and ethical regulations.

 ~ Josepine Fernow, CRB


Focus on the Rare Disease-Patient and Ethics Council (RD-PEC)

The Rare Disease Patient and Ethics Council (RD-PEC) was formed to ensure close collaboration on common problems related to ethical, legal and social issues (ELSI) which arise out of the work of RD-Connect, NeurOmics and EURenOmics.

The multidisciplinary group which includes patient advocates, scientists, clinicians, bioethicists, and sociologists is chaired by RD-Connect partner Pauline McCormack of Policy, Ethics & Life Sciences (PEALS) at Newcastle University.

The group allows those working on ELSI issues across the three projects to discuss experiential problems with researchers and patient groups and work towards practical solutions. The group regularly consults with the Patient Advisory Council (PAC) and thereby encourages the opinions and expertise of a wide constituency to be considered when looking at ethical, legal, social and participatory questions linked to the creation of a new platform for rare disease.

In the past 12 months the RD-PEC has contributed to work on the recently published International charter of principles for sharing bio-specimens and data and a Council of Europe consultation on the use of biomaterials of human origin in research. The RD-PEC was also well represented at a recent RD-Connect workshop on Standards for Informed Consent which was organised by the National Center for Rare Diseases at the Istituto Superiore di Sanità in Rome. During this workshop, participants were invited to discuss the common values and principles on informed consent and data sharing in the rare disease field.

As well as contributing to on-going ethical issues the RD-PEC acts as an advisory body to anyone in RD-Connect, NeurOmics or EURenOmics who has an ELSI issue which needs some consideration and opinion. Anyone can ‘Ask the RD-PEC’ either by emailing Pauline McCormack directly (pauline.mccormack@newcastle.ac.uk) or by filling in the form on the RD-Connect webpage.

~Pauline McCormack


The NeurOmics and CTSR PhenoSearch tool now has six cases looking for phenotypic matches

As part of the NeurOmics project, the Care and Trial Site Registry (CTSR) has recently been expanded to include clinical centres specialising in neurodegenerative as well as neuromuscular conditions. This resource now includes 314 expert centres seeing more than 50,000 patients worldwide. As well as helping the pharmaceutical industry and clinical investigators select trial sites and identify potential partners for upcoming research projects, the CTSR also now offers a phenotype ‘matchmaking’ service called PhenoSearch.

Resulting from activities within the NeurOmics project, PhenoSearch allows clinicians to post details of unusual, unsolved cases for which they are trying to find a phenotypic match. These cases are then available to registered members of the CTSR when they log-in. An email alert service highlights when new cases are posted.

PhenoSearch has a wide reach via the CTSR across the globe in the search for phenotypic matches and second families. The information it captures is descriptive, easy to access and will usually include photos to support the clinical description.

There are currently 6 cases which are live on the system and full details for each can be downloaded from the CTSR site. The titles of these cases are:

• Distal hereditary motor neuropathy with early onset cranial nerve palsy with strong candidate gene by WES.

• Distal spinal muscle atrophy and ataxia with cerebellar atrophy; new phenotype of a rare known disease gene.

• Distal myopathy. Slowly progressive muscle weakness.

• Myopathy, arthrogryposis, severe constipation, central apnoea requiring nasal oxygen overnight.

• Autosomal dominant myopathy with external opthalmoplegia and contractures.

• Childhood myopathy with muscle hypertrophy, lipodystrophy and scoliosis.

Please visit the Care and Trial Site Registry to access PhenoSearch, view the current cases or upload one of your own. If you need help logging on or would like to set up a new account, please contact Kirsten König (kirsten.koenig.studienzentrum@uniklinik-freiburg.de).

~Cathy Turner


Focus on the Patient Advisory Council (PAC)

As with much research on rare diseases, RD-Connect, EURenOmics and NeurOmics will navigate new research territory requiring the close collaboration of all stakeholders. To support the collaboration of project partners the Patient Advisory Council (PAC) will serve as a platform of education in which patient representatives will be informed of scientific issues and progress and researchers will be informed of patient expectations and experiences. EURORDIS play a pivotal role in this exchange of information as they are responsible for coordinating the PAC.  

On the 29th September 2014 the PAC met in Barcelona, Spain to attend the EURORDIS Round Table of Companies workshop, "Sharing rare disease patient data: translating principles into actions". During this workshop, the technical, legal and ethical nature of accepted models for data sharing and integration, the issues to consider when establishing such models and the good practices required to enhance the success of patient-centric efforts were discussed. 

Eight PAC members and 4 additional EURORDIS patient association volunteers attended the event.This marks another event in a series of workshops and discussions with the PAC on a number of issues around data sharing in general and in particular those being considered by RD-Connect.

Outcomes from these workshops have allowed EURORDIS to truly represent the group’s opinions in RD-Connect best practices an example being the recently published international charter of principles for sharing bio-specimens and data.

Further information about the PAC’s activities can be found below:

1. RD-Connect Kick-off meeting, Barcelona, Spain, January 2013

2. Stakeholders conference – spotlight on data sharing and consent, Brussels, Belgium, October 2013

3. Joint project meeting – Heidelberg, Germany, February 2014

~Anna Kole


Project partners respond to Council of Europe's 'use of biological materials in research' 

In light of recent developments in technologies such as whole genome sequencing and the increasing practice of exchanging samples and data between centres and across borders, the Council of Europe’s Committee on Bioethics is updating its 2006 recommendation on the use of biological materials of human origins in research. In March 2014, the Council issued a consultation document and asked for views on the proposed amendments. The Recommendation aims to protect the rights and privacy of individuals who give biological samples (like blood or skin) for research and gives guidance to researchers on storing and using the samples.

A collaborative response to the charter was coordinated by the Rare Disease Patient and Ethics Council (RD-PEC) with input from partners across RD-Connect, NeurOmics, EURenOmics IRDiRC and Eurobiobank. A copy of this joint response can be found here.

The response emphasised the importance of balancing individual citizens’ right to privacy and their right to receive medical treatment and benefit from prevention of disorders through the advancement of research. We emphasised the scarcity of biological materials within rare disease research and therefore the importance of being able to re-use samples for more than one research project, including making samples available across different countries and different disease groups.

The Council of Europe is a human rights organisation which works directly with the European Parliament.

~Pauline McCormack


Living with atypical haemolytic uraemic syndrome: a global poll 

Atypical haemolytic uraemic syndrome (aHUS) is a genetic, progressive, life-threatening disease resulting from chronic, uncontrolled activation of the complement pathway. aHUS is characterized by systemic thrombotic microangiopathy, clotting and red blood cell destruction leading to renal and other organ damage/ failure. Research efforts within WP5 of EURenOmics focus on such complement disorders.

The aHUS Global Poll came about as a result of a discussion by the aHUS Alliance, a global community of aHUS patient organisations, within the Rare Connect online communities platform of EURORDIS. International aHUS Patient Organisations from Canada, Spain, UK, and USA agreed to support a 2014 survey of aHUS patients from as many countries as could be reached out to.

A questionnaire was drafted by a small working group of representatives from aHUS patient organisations and EURORDIS. Questions were designed to address the key rare disease themes of diagnosis, treatment and commissioning, research and registries, societal impact and access to a centre of excellence and information; as well as finding out some key characteristics of those being surveyed.

Click here for further information about the survey results, discussion and infographics.

~Robert Pleticha


Upcoming events

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

Translational Science of Rare Diseases – From Rare to Care 2

8th-10th October, Herrenchiemsee, Germany

This meeting will bring together high-profile scientists from around the world and will focus on how basic science on rare diseases can have an impact for the development of novel therapeutic strategies.

RD-Connect co-ordinator Hanns Lochmüller is a confirmed speaker.

Further information can be found on the meeting website.

American Society of Human Genetics (ASHG) 2014

18th-22nd October, San Diego, California 

The American Society of Human Genetics Annual Meeting is held each fall in a major U.S. or Canadian city and attracts over 6,500 scientific attendees, including many RD-Connect partners, plus almost 250 exhibiting companies, which makes it the world’s largest gathering of professionals working in human genetic . 

Look out for RD-Connect  partner, Paul Flicek (European Bioinformatics Inst, Cambridge, UK) who will be moderating the 'Cloudy with a Chance of Big Data' session, and RD-Connect Scientific Advisory Board member, Peter Robinson, (Charite-Universitatsmedizin, Berlin, Germany) who will be moderating the session 'Statistical Methods for Population Based Studies' on Monday 20th October. 

Further information can be found on the conference website.

2nd International Rare Diseases Research Consortium (IRDiRC) Conference

7th-9th November, Shenzhen, China

IRDiRC is a global grouping of medical research funders, charities and pharma who have come together as a consortium to foster international collaboration and accelerate progress in rare disease research. Its goals are to deliver 200 new therapies for rare diseases and the means to diagnose most rare diseases by the year 2020. RD-Connect was one of the EU's first projects to be funded under the IRDiRC banner.

The 2nd IRDiRC conference aims to raise awareness of the topic of rare diseases around the world and to foster international collaborations involving Chinese researchers and clinicians. It will provide an unmissable opportunity to network with different rare disease communities from Europe, North and South America, Africa and Asia-Pacific. It is hoped that this will encourage and motivate investment of research and social resources in the field of rare diseases, to ultimately improve the diagnosis, treatment and care of patients and their families.

The following RD-Connect partners and associated partners have been confirmed as speakers during this three day event: Ségolène Aymé, Mathew Bellgard, Kym Boycott and Michael Brudno.

Further information can be found on the conference website

III International EPIRARE workshop - Rare disease and orphan drug registries

24th-25th November, Rome, Italy

Patient registries are key tools in rare disease research and are now the subject of unprecedented popularity in translational research and of extensive policy actions. The III International EPIRARE workshop, organised by RD-Connect partner and registries work package leader Domenica Taruscio.

This workshop will cover the following topics: 

• the contribution of registration activities to recent advancements in the natural history, epidemiology and pathogenesis of rare diseases as well as patient care and quality of life.

• practical and innovative applications of registries, such as recruitment of patients in clinical trials, social and health service planning, patients’ support networks and integration with other initiatives, such as biobanks and databases for genomic and phenomic analysis.

• lessons learned in the management of RD registries, e.g. regarding financial sustainability, quality assurance, ethical issues and patients’ confidence, data protection, ownership and accessibility, as well as patients’ contribution, involvement and advocacy initiatives.

• the impact of e-health initiatives, new communication technologies and social networks.

• increasing the visibility of RD patient registries and databases within and beyond the scientific community and promoting the debate and the interaction among the many stakeholders of patient registration activities.

The abstract submission deadline is 12th October 2014

Further information can be found on the workshop hompage.


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