Edition of 01 April 2008

The CONnective TIssue CAncers NETwork to integrate European Experience (CONTICANET) is dedicated to promoting research into the connective tissue cancers in adults, adolescents and children. Funded by the European Commission’s Sixth Framework Program (LSH-2004-2.2.0-1), this Network of Excellence kicked off in February 2006, funded for a five-year period. Connective tissue cancers include more than 50 different rare tumours. Within the European Union, incidence is not well known, but considered to be between 2-6 per 100,000 persons per year. Connective tissue cancers, including sarcomas, GIST, aggressive fibromatosis and hamartomas affect children, adolescents and adults, constituting 2% of adult cancers and 15% of paediatric cancers. As with many rare diseases, the low number of cases per country per year hinders efforts to further the understanding of these cancers, as well as the development of treatments. CONTICANET is thus generating a critical mass of key stakeholders in order to rectify the obstacles caused by data fragmentation, researcher mobility, and the heterogeneity of both methodologies and legislation. The CONTICANET network includes some 250 researchers and physicians, making it one of the largest concentrations of “molecular research and clinical pharmacological transfer” in the world focusing on connective tissue cancers. The network seeks to harmonise efforts by promoting joint research activities, establishing standard operating procedures, and making available common databases and tissue banks. In order to improve the management of connective tissue cancers and facilitate new treatment development, CONTICANET is contributing to the following efforts:

A consortium of 20 different organisations – major cancer centres, academic institutions, and private enterprises – hailing from nine different European countries (Belgium, France, Germany, Ireland, Italy, the Netherlands, Spain, Slovenia and the UK) is creating the environment necessary to facilitate collaborative research efforts by developing standardised procedures that will help propagate excellence in the field. The consortium members contribute 70% of all European and 30% of all worldwide peer-reviewed relevant publications. Various members bring to the table a portfolio of more than 30 innovative agents at various stages of development and screening technologies unavailable outside the consortium. Each of the network’s partners is contributing its own particular expertise to the project:

A team from Claude Bernard Lyon 1 University coordinates the network, chairs the scientific advisory board, and leads several initiatives, including the epidemiology, molecular epidemiology and medical practice evaluation joint research activities and the interaction with the advocacy groups for adults and children. CONTICANET’s overall project coordinator Jean-Yves Blay is professor of medicine at the Claude Bernard Lyon 1 University as well as chairman of the Soft Tissue and Bone Sarcoma Group of EORTC and an active member of the European Society of Medical Oncology. He has published over 210 peer-reviewed articles. Amongst other activities, the Claude Bernard Lyon University team also has research underway to identify mechanisms of action of imatinib and other TKI or GIST cells, cellular models of GIST, and aggressive fibromatosis and selected sarcoma subtypes, and to develop clinical research of innovative targeted agents in phase I and II trials in sarcomas and other tumour types. Read more

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On 29 February, the Romanian Ministry of Health and the country’s National Alliance for Rare Diseases signed an accord to form a partnership in order to instate a national plan for rare diseases. A member from the ministry and from the alliance have been appointed to work together to review the national plan that was developed by rare disease stakeholders and presented to the government at the end of 2007, with an eye to creating an estimate of funding and resources required for each element of the plan. An expert team, including geneticists, paediatricians, endocrinologists, cardiologists, oncologists, informatics specialists, public policy experts and other specialists will be gathered to help evaluate the plan and develop a cost analysis for each item. The country’s 2008 health budget will then be readjusted to include funding for various elements of the rare disease plan. A working document has been developed with a timeline for implementing specific elements of the plan, which seeks to improve access to information; establish an adequate strategy for ensuring prevention, diagnosis, treatment and rehabilitation services; create a national registry; stimulate research; create rare disease training initiatives for professionals from various fields; and collaborate with various EU and international organisations. An estimated one million rare disease patients live in Romania.

A United States National Institutes of Health (NIH) study is seeking child and adult patient participation. WAGR is an acronym for Wilms tumor-Aniridia-Genitourinary anomalies-mental Retardation syndrome. The prevalence of WAGR syndrome is less than 1 in 100,000 births. Participation in the research study involves sending blood samples and medical records to the NIH investigators, who are seeking to learn more about how the genes involved in WAGR syndrome affect patients.
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Venue: South Tyrol, Italy
Date: 31 August - 4 September 2008

This course is focused on phenotypic findings, mechanisms of origin and transmission, and correlations of clinical patterns with the chromosomal imbalance. Special attention is paid to an understanding how deletions and/or duplications of chromosomal segments cause developmental defects. The course also addresses the optimal application of the diagnostic possibilities including molecular cytogenetic methods for a precise determination of segmental aneuploidy.
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