Newsletter from the ERN Multisystemic Vascular Diseases
 

VASCERN

European Reference Network on Rare Multisystemic Vascular Diseases

Newsletter #7 - January 2017

image HTAD-WG New Publication

A new HTAD-WG collaborative research paper has been published by Prof Guillaume Jondeau and CRMR Marfan team members (Dr Olivier Milleron, Maud Langeois, Myrtille Spentchian, Prof Catherine Boileau) as well as HTAD-WG…

VASCA-WG Members New Publication

The paper on the identification of the cause of BRBN syndrome was published in the January issue of Journal of Investigative Dermatology. This collaborative research paper has been written by VASCern VASCA-WG…

image EU Call for Rare Disease Registries

The European Commission has published a Call for proposals for Projects on Rare Disease Registries for approved ERNs on December, 21st. EU CALL RARE DISEASES REGISTRIES (PJ-06-2016) Aim: increase knowledge…

image VASCERN Successful ERN Labelisation

VASCern with its 31 HCP Members has been validated today, December 15th, by the Board of Member States representatives as an official European Reference Network, following our answer to the…

image E-Rare 3 Call for Transnational Research Projects for Innovative Therapeutic Approaches for Rare Diseases

The European Research Area Network ERA-Net "E-Rare" for Research Programmes on Rare Diseases 3rd phase (E-Rare 3 2014-2019) includes new joint transnational calls for research proposals in order to encourage research…

image International joint recommendations to address specific needs of undiagnosed Rare Disease patients

Read here the International Joint recommendations to address specific needs of undiagnosed Rare Diseases Patients 5 major recommendations:  1. Undiagnosed Rare Disease Patients should be recognised as a distinct population…

Conference on cross-border healthcare Directive “Towards amplified awareness of EU rights to cross-border care”

Presentations and report of the conference are available here

Study on Big Data in Public Health, Telemedine and Healthcare

Read the EU report here

  The Hidden Costs of Rare Diseases, a feasibility study

Genetik Alliance UK has conducted a study on the hidden costs of Rare Diseases, assessing how best to measure and evaluate the true costs of managing rare conditions. More info here…

EURORDIS workshop on good clinical practice in the context of ERNs

This workshop was help during in May 2016. Presentations and report here, including on: best practice guidelines in the context of rare disease European Reference Networks tools developed by the…


Up-coming events

  • Wed
    08
    Feb
    2017
    Thu
    09
    Feb
    2017
    Paris, France

    The third conference of the International Rare Diseases Research Consortium (IRDiRC) will take place February 8-9, 2017 in Paris, France.

    All information here Programme here Registration here 

  • Fri
    10
    Feb
    2017
    Geneva, Switzerland

    "The event is the first of its kind to be organised in Geneva and will gather international experts in the fields of public health, human rights, epidemiology, scientific research and patient advocacy to discuss why and how rare diseases should be included in the global health agenda."

    All information and registration here

  • Wed
    22
    Feb
    2017
    Thu
    23
    Feb
    2017
  • Tue
    28
    Feb
    2017

    rdd-logo

    How to get involved and support Rare Diseases Day 2017: here

    All information available here

  • Sun
    05
    Mar
    2017
    Wed
    08
    Mar
    2017
    Boston, Massachusetts, USA

    All information and registration here

  • Thu
    09
    Mar
    2017
    Fri
    10
    Mar
    2017
    Vilnius, Lithuania

    The European Commission (DG Health) organises the ERN Conference: ERN awarding ceremony as well as ERN Kick-off event on March, 9-10th in Vilnius, Lithuania.

    More information coming soon!

  • Fri
    19
    May
    2017
    Sat
    20
    May
    2017
    Budapest, Hungary

    Save the date! All information about the meeting and the patient fellowships are available here

  • Thu
    08
    Jun
    2017
    Sun
    11
    Jun
    2017
    Dubrovnik, Croatia

    Abstract submission here until February 28th

    This International event will gather world’s leading HHT experts in both basic research as well as clinical practice, including our VASCern HHT-WG Chairs and Members.

    Prof. Hans Jurgen-Mager, HCP Representative and Member of the VASCern HHT-WG is also Co-Chair of the Cure-HTT Organising Committee for this international meeting.

    All information and registration available here

  • Thu
    29
    Jun
    2017
    Fri
    30
    Jun
    2017
    London, UK

    All information and registration here

  • Thu
    29
    Jun
    2017
    Sat
    01
    Jul
    2017
    Prague, Czech Republic

    In Prague, over two days, 14 leading experts will review recent advances across the spectrum of cardiology. Interact with colleagues, exchange information and ideas, and get updated – helping you to provide the best care for your patients!

    Programme: here

    All information and registration here

     

  • Fri
    22
    Sep
    2017
    Sat
    23
    Sep
    2017
    Lyon, France

    The European Society of Vascular Surgery organises its 31th annual meeting in Lyon on September, 22-23rd 2017.

    All information here

  • Wed
    30
    May
    2018
    Fri
    01
    Jun
    2018
    Amsterdam

    ISSVA 2018

    This biannual meeting, which is attended by a wide array of specialists including intervention radiologists, dermatologists, plastic surgeons, ENT surgeons, pediatricians, pediatric surgeons, oncologists and pathologists, presents the latest developments in this fast moving area.

    All information and registration on the event page here

  • Thu
    07
    Mar
    2019
    Sun
    10
    Mar
    2019

EU calls

  • Tue
    31
    Jan
    2017

    The European Commission (DG Health) has launched a new call for proposals for a pilot project in the area of Rare Diseases. This will be founded by the European 3rd Health Programme.

    PP-2-1-2016 - Pilot project — Establishing a Registry of Rare Congenital Malformations (as part of the Rare Diseases Registry), drawing on the structure, organization and experience of the Registry of Congenital Malformations

    • The key objective of this pilot project is to set up a registry of rare congenital malformations as a part of rare diseases national registers. The project should be implemented at a national level.
    • The secondary aim of the project is to provide an example of how to extend an existing birth defects registration and surveillance system to a rare diseases registration system.
    • The birth defects registration system has already been set up in several MSs as part of the EUROCAT surveillance network. The pilot project provides a model for exploring whether a birth defects registry can be extended to form a rare diseases registry.
    • The pilot project should contribute to the development of an EU Platform on Rare Diseases Registration to provide a common access point to data collections on rare diseases across Europe and to be compatible with platform tools.

    Opening: October 27th 2016
    Deadline: January 31st 2017
    Call document: here 
    More information and link for submission here

     

  • Wed
    01
    Feb
    2017

    The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition i.e. a disease affecting not more than five in 10.000 persons in the European Community, EC associated states and Canada.

    The specific objective of this call is to promote research projects focusing on the pre-clinical development of therapeutic approaches in suitable existing animal or cell models.

    Date of publication: December 5th 

    Deadline for proposal pre-registration: February 1, 2017

    Deadline for proposal submission: June 2nd, 2017

    More information here

    Call document: here 

    Call forms: here

    Guidelines: here

     

  • Thu
    09
    Feb
    2017

    Call identifier: ERC-2017-CoG

    Deadline: February, 9th 2017

    ERC Consolidator Grants are designed to support excellent Principal Investigators at the career stage at which they may still be consolidating their own independent research team or programme. Applicant Principal Investigators must demonstrate the ground-breaking nature, ambition and feasibility of their scientific proposal. Principal Investigator shall have been awarded his or her first PhD > 7 and ≤ 12 years prior to 1 January 2017. 

    More information in the ERC 2017 Work Programme (pp. 23-24 on CoG)

  • Thu
    23
    Feb
    2017

    Being nearly at the half-way point of the 3rd Health Programme which runs from 2014 to 2020, the Commission would like to evaluate whether it is meeting its objectives and whether there is room for improvement.

    Answer here to the EU Consultation on the 3rd European Health Programme ! It is open to any interested parties in order to gather views and opinions on:

    • The objectives and priorities of the 3HP, and the extent to which these are appropriate and in line with health needs in the EU
    • The way the 3HP is implemented, and the extent to which this is effective and efficient
    • The overall added value and usefulness of the 3HP

    More info here

  • Tue
    21
    Mar
    2017

    Aim: increase knowledge on rare diseases and develop clinical research

    Eligibility: only applicants members of approved ERNs are eligible to be co-funded.

    Scope: from at least 3 countries
    Description: The activities to be carried out concern the creation of 3-4 new registries on rare diseases. These registries should constitute key instruments to increase knowledge on rare diseases and develop clinical research. Collaborative efforts to establish data collection and maintain them will be considered, provided that these resources are open and accessible. Registries should be built with the support and according to the standards set up by the European Platform on rare diseases registration and provide all necessary data to the Platform (taking the relevant data protection rules into account).

    Call text: here

     

    Budget: EUR 1.200.000 (indicative budgetary ceiling per grant to be awarded in 2017 is EUR 400.000, for 3 to 4 registries)

    Deadline: March, 21st

    All information: here

  • Fri
    31
    Mar
    2017

    If you follow a cohort of patients with FMD, and are willing to contribute to the European FMD registry and join a network of specialists interested by the clinical and basic aspects of the disease, please contact us (FMD-saintluc@uclouvain.be).

    Read the call here

  • Tue
    11
    Apr
    2017

    Topic Identification:  SC1-HCO-07-2017

    Stay tuned: here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-HCO-03-2017
    Types of action: ERA-NET-Cofund ERA-NET Cofund

    This call should aim at implementing a key area of the PerMed Strategic Research Agenda and be complementary with other funding programmes and activities at European and international level. Proposers are encouraged to include other joint activities including additional joint calls without EU co-funding. This work should be informed by the output of the coordination and support action envisaged in topic SC1-HCO-05-2016 - Coordinating personalised medicine research, without duplicating any of its work.

    The proposed ERA-NET should demonstrate the expected impact on national and transnational programmes as well as the leverage effect on European research and competitiveness, and should plan the development of key indicators for supporting this. Participation of international partners is highly encouraged.

    The Commission considers that a proposal requesting a contribution from the EU of EUR 5 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.

    More information here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-PM-03-2017
    Types of action: RIA Research and Innovation action

    Deadline: 11 April 2017

    The aim of this research should be to apply genomics and/or other –omics and/or other high-throughput approaches for the molecular characterisation of rare diseases in view of developing molecular diagnoses for a large number of undiagnosed rare diseases. Undiagnosed rare diseases may range from a group of unnamed disorders with common characteristics to a phenotypically well described disease or group of diseases with an unknown molecular basis. Genetic variability due to geographical distribution and/or different ethnicity should be taken into account as well as genotype-phenotype correlation whenever applicable. In addition, age, sex and gender aspects should be included where appropriate. This large-scale proposal should promote common standards and terminologies for rare disease classification and support appropriate bioinformatics tools and incentives to facilitate data sharing. Existing resources should be used for depositing data generated by this proposal. Molecular and/or functional characterisation may be part of the proposal to confirm diagnosis. The proposal should enable and foster scientific exchange between stakeholders from countries and regions with different practices and strategies of rare disease diagnostics.

    The selected proposal shall contribute to the objectives of, and follow the guidelines and policies of the International Rare Diseases Research Consortium IRDiRC (www.irdirc.org).

    The Commission considers that requesting a contribution from the EU of around EUR 15 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of a proposal requesting other amounts.

    More information here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-HCO-08-2017
    Types of action: CSA Coordination and support action

    Any type of activities that can help less performing countries and regions to build capacities and exploit opportunities to eventually increase their participation in EU funded collaborative projects can be supported.

    The proposals will propose concrete measures for tackling structural barriers to health research and innovation, including those related to capacity, skills, policy, regulatory environment, and economic and socio-cultural factors including gender equality issues and gender dimension in research content.

    More information and call documents here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-PM-08-2017
    Types of action: RIA Research and Innovation action

    Deadline: April 11th 2017

    Support will be provided to clinical trials on substances where orphan designation has been given by the European Commission, where the proposed clinical trial design takes into account recommendations from protocol assistance given by the European Medicines Agency, and where a clear patient recruitment strategy is presented. Clinical trials may focus on a range of interventions with an orphan designation, from small molecule to gene or cell therapy, may include novel interventions and/or repurposing of existing and known interventions. The intervention must have been granted the EU orphan designation at the latest on the date of the full proposal call closure. A concise feasibility assessment justified by available published and preliminary preclinical or clinical results and supporting data shall also be provided. Appropriate plans to engage with patient organisations, Member States health authorities and considerations of efficacy/potential clinical benefit as well as early indication on health economics should be integrated in the application. In addition to the clinical trial, proposals may also include limited elements of late stage preclinical research and/or experimental evaluation of potential risks which must be complementary/contribute to the clinical trial(s) carried out within the proposal. The centre of gravity must clearly be the clinical trial(s). The participation of SMEs is encouraged.

    More information and call documents here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-PM-02-2017
    Types of action: RIA Research and Innovation action

    Deadline: April 11th 2017

    Proposals should deliver novel concepts for disease-mechanism based patient stratification to address the needs for stratified or personalised therapeutic interventions. The proposals should integrate multidimensional and longitudinal data and harness the power of -omics, including pharmacogenomics, systems biomedicine approaches, network analysis and of computational modelling. The new concepts of stratification should be validated in pre-clinical and clinical studies taking into account sex and gender differences. Applicants are encouraged to actively involve patient associations. The proposals should consider regulatory aspects of clinical practice and commercialisation opportunities. Proposals should focus on complex diseases having high prevalence and high economic impact.

    The Commission considers that proposals requesting a contribution from the EU of between EUR 4 and 6 million would allow this specific challenge to be addressed appropriately. Nonetheless, this does not preclude submission and selection of proposals requesting other amounts.

    More information and call documents: here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-PM-10-2017
    Types of action: RIA Research and Innovation action

    Deadline: April 11th 2017

    Proposals should compare the use of currently available preventative or therapeutic (pharmacological as well as non-pharmacological) healthcare interventions in adults[1]. While there is no restriction on the diseases or interventions to be the focus of proposals, preference will be given to proposals focusing on interventions with high public health relevance and socio-economic impact, i.e. interventions addressing conditions that are particularly frequent, may lead to co-morbidities, have a high negative impact on the quality of life of the individual and/or are associated with significant costs or where savings can be achieved. A cost effectiveness analysis must be included. Given the focus on existing interventions, proposals will aim to contribute to improve interventions, take decisions about the discontinuation of interventions that are less effective or less cost-effective than others, and make recommendations on the most effective and cost-effective approaches. A comprehensive array of clinical and safety parameters, as well as health and socio-economic outcomes (e.g. quality of life, patient mortality, morbidity, costs, and performance of the health systems) for chosen populations should be assessed. Agreed core outcome sets (COS) should be used as endpoints in conditions where they already exist, in other cases efforts should be made to agree on such COS. Randomised controlled trials, pragmatic trials, observational studies, large scale databases and meta-analyses may be considered for this topic. Where relevant the study population should address gender as well as socio-economic differentials in health and/or any other factors that affect health equity.

    More information and call documents here

  • Tue
    11
    Apr
    2017

    Topic identifier: SC1-PM-20-2017
    Types of action: RIA Research and Innovation action

    Deadline: April 11th 2017

    More information and call documents here

  • Tue
    16
    May
    2017
    Thu
    31
    Aug
    2017

    Call identifier: ERC-2017-AdG

    ERC Advanced Grant Principal Investigators are expected to be active researchers and to have a track record of significant research achievements in the last 10 years which must be presented in the application. There is little prospect of an application succeeding in the absence of such a record, which identifies investigators as exceptional leaders in terms of originality and significance of their research contributions.

    More information in the ERC Work Programme 2017 (pp. 25-28 on AdG)

 
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