September 4, 2013
COST Action, BM1208, represents the recently established European network for congenital Imprinting disorders (Learn more). This action currently includes more than 30 groups from 12 European countries (clinicians, geneticists, molecular biologists, patients organisations, SME), aiming on standardisation of treatment and diagnosis of Imprinting disorders (e.g. Prader-Willi, Angelman syndrome), on networking research and dissemination of findings. A specific website for the Network (http://www.imprinting-disorders.eu) is currently under construction. This is a growing network and is expecting more groups from 10 European countries (and non-European partners) to participate.
An interview with the Chair for a new COST Action, BM1208, Dr. Thomas Eggerman enlightens us with more information on the European network for Congenital Imprinting
Interview of Dr. Thomas Eggerman, chair of COST Action, BM1208
IRDiRC: What is the idea of developing a network for congenital imprinting disorders? What are going to be the key factors?
Dr. Thomas Eggerman: Imprinting disorders (IDs) are an under-diagnosed group of conditions that impact on human growth, neurodevelopment and metabolism due to unique molecular mechanisms involving the interaction of epigenetics and genetics. They affect at least 7,500-10,000 patients in the EU and predispose to obesity, diagnosis and cancer. Until now, research on IDs has been fragmented and focused on single disorders, without general strategies to decipher the common underlying mechanisms. There has been no standardised clinical assessment or management of IDs, resulting in fluctuations in both diagnostic workup and standards of care. Furthermore, molecular diagnosis of IDs is not uniformly available and standardised throughout Europe, resulting in variability of diagnosis and of resultant management for patients. Progress in our understanding and management of IDs requires the co-ordinated efforts of specialist clinicians (general pediatricians and pediatric endocrinologists), molecular geneticists, basic scientists, epidemiologists and bioinformaticians, as well as, critically, the experience of patients groups. We have therefore founded the European Network of congenital imprinting disorders (EUCID.net), supported by the European networking program COST (Action BM1208). EUCID.net is a pan-European interdisciplinary network to promote ID research from molecular studies to treatment, to improve the standard of clinical and molecular diagnosis for IDs across Europe, and to educate the public and professionals about the disorders.
IRDiRC: What factors helped you to create this network?
Dr. Thomas Eggerman: Several partners in our network have longstanding links, through national ID networks, collaborations with patients support groups and bilateral international co-operation activities; but there was no co-ordination of work on the European level. The idea of a network developed in autumn 2011 during extensive discussions between our partners from DE, DK, FR, IT and UK. As the result of our discussions, we submitted our first proposal to the European COST program in summer 2012, and with the invaluable support of COST we could start our Action BM1208 in May 2013. As our COST Action evolved, we contacted groups all over Europe: so far, we have received positive feedback from 41 groups from 20 European countries, including SMEs and patients’ organisations.
IRDiRC: Who are your key collaborators? What are their roles?
Dr. Thomas Eggerman: The COST Action brings together expertise on IDs from experts from all over Europe, and will be run in five inter-dependent and interdisciplinary working groups (WGs). The WGs cover the five major topics of the Action (clinics, research, diagnosis, capacity building, dissemination), and they are headed by experts in the respective fields (I. Netchine/Paris, I.K. Temple/Southampton; Z. Tümer/Glostrup, D. Monk/Barcelona; D. J. Mackay/Salisbury, K. Gronskønskov/Glostrup; A. Riccio/Napoli, E.R. Maher/Cambridge; A. Linglart/Paris). Leader and co-leader are responsible for the coordination, organisation and supervision of the WGs. Together with the Chair and the Vice-Chair of the Action (T. Eggermann/Aachen, I. Netchine/Paris), the WG leaders and co-leaders constitute the Steering Committee (SC) which coordinates the WG activities and monitors the progress of the network. The Action is generally overseen and evaluated by the Management committee (MC) which coordinates the key issues of the Action. The MC consists of two representatives per participating country.
IRDiRC: What are the goals of this network? How long will it take to reach these goals?
Dr. Thomas Eggerman: Altogether, we aim at joining forces and complementing studies to increase the life quality of patients and to reduce health care costs. By fostering active collaboration and exchange of scientific knowledge, our network will avoid inefficient and overlapping research in Europe and will further strengthen the pre-eminent position of European groups in the field of IDs. The stakeholders (e.g. IRDiRC, EUORDIS, EUCERD) can expect data on the frequencies of IDs, their molecular basis, and – as the ultimate goal – specific and personalised therapeutic strategies. Additionally, patients and their families will contribute their own areas of interest.
IRDiRC: Can you describe how COST is helping you in building this network?
Dr. Thomas Eggerman: COST is a framework for European Cooperation in Science and Technology, which aims to coordinate nationally-funded research on a European level. By providing a flexible, centrally supported platform for meetings and networking, the COST program will enable co-ordination of national activities into European networks, build capacity, and integrate high-quality scientific communities throughout Europe and worldwide. As mentioned before, already 41 expert groups from 20 COST countries have expressed their interest in this Action. We plan to connect with teams from further European countries, Canada, Australia, USA, and other parts of the world.
To illustrate the value of COST for our network and for European-wide networking in general, I briefly want describe the tools of this program:
• By Short Term Scientific Missions (STSMs) and perioidic training workshops (called the Imprinting School) we will train early stage scientists and clinical scientists with specific skills in the field of IDs and (epi)genetics.
• By scientific meetings and conferences we will disseminate our knowledge and transfer know-how from the Action members to the scientific community, the patients´organisations and the general public.
• A key activity of our network is our project website (http://www.imprinting-disorders.eu). This website represents a forum for discussion for researchers and a platform of knowledge, including relevant links. The visitor will find announcements of events and calls for additional participations to the Action. We also expect that this site will be a platform for discussion for affected individuals and patient organisations.
IRDiRC: Are there any other funding sources? How do you plan to sustain the network?
Dr. Thomas Eggerman: The COST Action BM1208 has already a close interaction with numerous national and international research programmes, e.g. the EU-FP7 INGENIUM Marie-Curie ITN, the French national center of reference for Prader-Willi syndrome, EuroPHPnet, the German Imprinting Network, the French center of reference for rare disorders of calcium and phosphorus metabolism. In addition to these interactions EUCID.net interacts with the world-wide and European stakeholders working on rare diseases, e.g. IRDiRC, EURORDIS, EMQN, and EUCERD. The network partners collaborate with national patient groups, and the German patients’ organisation BKMF (Bundesverband Kleinwüchsiger Menschen und ihre Familien e.V.) is member of EUCID.net. It is therefore vital that the leading European experts in the field of IDs support this COST Action. With the support of COST we will develop program proposals to be submitted for future European and national funding calls. To answer your question about sustaining our Activities: COST can be regarded as the catalyst of our EUCID.net, which is just at its inception.
IRDiRC: How will this benefit the rare disease community?
Dr. Thomas Eggerman: IDs share a common pathophysiology, and we share a common aim to advance knowledge, and translate it into better diagnostic and clinical management to benefit patients and their families. It is imperative that ID research in the EU should incorporate the expertise of all interested stakeholders, including academics, clinicians, SMEs and patients from both COST and non-COST countries. Our main motivation is to defragment and harmonise research, diagnostics and treatment, clinical and educational activities on IDs.
This COST Action will, for the first time, draw together workers of all eight known human IDs. We will harmonise a common ID classification system, develop guidelines for treatment through consensus, create standard operation procedures (SOPs) for diagnosis based on best current practice, coordinate databases held in different countries to make them compatible and useful as a springboard for collective research initiatives, identify new imprinting disorders through collaborative effort, educate researchers and stimulate translational exchange. The ID network will join forces and complement studies to reduce health care costs and increase the life quality of patients.
IRDiRC: Do you think this network will contribute to the goal of IRDiRC of 200 therapies and means to diagnose most rare diseases by 2020? If yes, how?
Dr. Thomas Eggerman: The main reason for the Action is that the knowledge about the causal pathomechanisms leading to IDs is sparse, although a small number of underlying genetic and epigenetic factors are already known. Due to their rarity most of the IDs are not well known to many clinicians and therefore often remain undiagnosed, resulting in unsatisfactory and inefficient therapies and lack of predictive medicine. While valuable conventional treatments (hormone replacement or modulation, tumour surveillance, physiotherapy) exist, they have not yet been harmonised into personalized medicine framed by ID-specific guidelines, and there is no coordinated European forum for interaction between researchers, clinicians and patients. Our unique interdisciplinary network will not only identify genetic and epigenetic factors in IDs but also link them to phenotypic traits and potential pathophysiological mechanisms, as well as treatments and European-wide clinical trials. By these activities our network will be a crucial reference for consultation and support to clinicians and geneticists from countries less advanced in clinical and genetic diagnosis of IDs.
As a first step to achieve these objectives, we will standardise the clinical and molecular diagnosis of the different IDs. We believe that the development of novel diagnostic tests and management guidelines will result in a timely and satisfactory diagnosis for IDs and allow individualised optimal treatment as early as possible. These improvements will significantly enhance the quality of life of patients and their families. Specific actions will target patients and families, aiming to improve their knowledge about their disease, encourage research involvement and clinical trial participation and stir up adherence to treatment and preventive medicine.
By deciphering the molecular mechanisms underlying IDs, and development of appropriate models, our network takes the first steps towards targeted interventions, personalized medicine, preventative strategies for better ageing and supplying the basis for future clinical trials and orphan drugs. This will reduce the use undirected and unnecessary therapies. In general, epigenetic testing will become as important a diagnostic tool as genetic testing is now, and work on rare epigenetic disorders is likely to have broad ranging impacts on our knowledge of more common diseases. This may lead to of the development of more cost-effective diagnostic tests for disorders like cancer and cardiovascular disease.
The interdisciplinary exchange of clinicians and scientists from academic institutions, SMEs and patients´ organisations in our network is urgently required to achieve these aims and to gather significant data from all known IDs. The resulting data are the prerequisite for successful research of molecular causes of IDs and for the development of novel diagnostic and therapeutic regimes. EUCID.net will thereby significantly contribute to connection and harmonisation of databases as the key factor to reach the IRDiRC goals for the eight IDs.
IRDiRC: What are the challenges you face or are expecting to face for setting up this network?
Dr. Thomas Eggerman: Our network is innovative as it brings together researchers from academic, clinical and industrial settings who share a common goal of improving the field of European ID research in a logical and co-ordinated manner. Of course, our participants from different fields (clinicians, scientists, industry, patients) from 20 European countries have to learn to speak the same language, in respect to the language itself as well to our specific fields of interest. However, with our first general meeting for all participants in October 2013 in Aachen we will overcome this obstacle and learn from each other. Another major challenge will be the recruitment of national and international funding, in particular against the background of the current financial situation in Europe and the shrinking support of research in many countries. Thus, much work remains to be done; but I´m convinced that our network is a promising tool to address many current problems in the field of IDs.
IRDiRC: Who would you like to join this network? What characteristics are you looking for in organisations who want to join?
Dr. Thomas Eggerman: After our inventory stage, our EUCID.net network will be open to all organisations and groups working in the field of IDs, including clinics, diagnostics and counselling, research, industry and public. One major task within the next months is to collect all data on the current activities of our participants in the different countries. The next steps will include a survey of procedures in diagnostics and treatment of IDs through Europe and world-wide, with the aim of developing harmonised standard operating procedures and guidelines. We will therefore call all on groups and institutions working on IDs to visit our website (http://www.imprinting-disorders.eu) to get an overview on our Network, and become aware of our activities. Interested groups should contact either the participating national groups listed on our website or the EUCID.net network directly (firstname.lastname@example.org).