COST Action BM0902 - IMPASCIENCE file2 I. Management Report prepared by the COST Office/Grant Holder...

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COST Domain Committee "Biomedicine and Molecular Biosciences" COST Action BM0902 Start Date: 13/11/2009 Network of experts in the molecular diagnosis of myeloproliferative neoplasms and related congenital diseases (MPN&MPNr-EuroNet) MONITORING PROGRESS REPORT Reporting Period: from 01/01/2011 to 31/12/2011 This Report is presented to the relevant Domain Committee. It contains three parts: I. Management Report prepared by the COST Office/Grant Holder II. Scientific Report prepared by the Chair of the Management Committee of the Action III. Previous versions of the Scientific Report; i.e., part II of past reporting periods The report is a “cumulative” report, i.e. it is updated annually and covers the entire period of the Action. Confidentiality : the documents will be made available to the public via the COST Action web page except for chapter II.D. Self evaluation. Based on the monitoring results, the COST Office will decide on the following year’s budget allocation. Executive summary (max.250 words) In 2011, membership in COST Action BM0902 (MPN&MPNr-EuroNet), dedicated to myeloproliferative neoplasms (MPN) and related congenital diseases, increased to 90 members from 17(+1) countries. MPN&MPNr-EuroNet’s website (www.mpneuronet.eu ) was up-dated, one STSM was performed, and meetings were organized in La Baule, France (April 6-8, 2011) and Munich, Germany (September 14-16, 2011). Two training schools were organized, in Nîmes, France (May 11-13, 2011; Subject: Detection of MPN Mutations, Theory, Practice) and Coimbra, Portugal (October 20-22, 2011; Subject: Diagnosis of Congenital Erythrocytosis); the level of satisfaction of trainees was high. Close interactions with COST Action TD0901 (Hypoxianet) were pursued, MPN&MPNr-EuroNet members being invited speakers in meetings of Hypoxianet and vice-versa. One Hypoxianet member was invited speaker of the Coimbra MPN&MPNr-EuroNet training school. Interactions and collaborations with two other COST Actions, BM0801 (EuGESMA) and BM1006 (SEQAHEAD) were started. A new European FP-7 project dedicated to genomics studies of MPN and related congenital diseases (MPD-Diag) was prepared and submitted. This new collaborative project includes 8 members of MPN&MPNr-EuroNet, the Chair of Hypoxianet (Prof. Roland Wenger, Zürich, CH) and he Chair of EuGESMA (Prof. Ken Mills, Belfast, UK). MPN&MPNr-EuroNet’s activities were presented at major meetings of international hematology societies: European Haematology Association (EHA, London, UK, June 2011), European Leukemia Net (ELN, Mannheim, DE, February 2011) and American Society of Hematology (ASH, San Diego, CA, USA, December 2011), and at the European Institute for Reference Materials and Measurements (IRMM, Geel, BE, September 2011). Finally, the 2012 work plan and budget were discussed and approved by MC members.

Transcript of COST Action BM0902 - IMPASCIENCE file2 I. Management Report prepared by the COST Office/Grant Holder...

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COST Domain Committee "Biomedicine and Molecular Biosciences"

COST Action BM0902

Start Date: 13/11/2009 Network of experts in the molecular diagnosis of myeloproliferative neoplasms and

related congenital diseases (MPN&MPNr-EuroNet)

MONITORING PROGRESS REPORT

Reporting Period: from 01/01/2011 to 31/12/2011

This Report is presented to the relevant Domain Committee. It contains three parts:

I. Management Report prepared by the COST Office/Grant Holder II. Scientific Report prepared by the Chair of the Management Committee of the Action III. Previous versions of the Scientific Report; i.e., part II of past reporting periods The report is a “cumulative” report, i.e. it is updated annually and covers the entire period of the Action. Confidentiality: the documents will be made available to the public via the COST Action web page except for chapter II.D. Self evaluation. Based on the monitoring results, the COST Office will decide on the following year’s budget allocation.

Executive summary (max.250 words)

In 2011, membership in COST Action BM0902 (MPN&MPNr-EuroNet), dedicated to myeloproliferative neoplasms (MPN) and related congenital diseases, increased to 90 members from 17(+1) countries. MPN&MPNr-EuroNet’s website (www.mpneuronet.eu) was up-dated, one STSM was performed, and meetings were organized in La Baule, France (April 6-8, 2011) and Munich, Germany (September 14-16, 2011). Two training schools were organized, in Nîmes, France (May 11-13, 2011; Subject: Detection of MPN Mutations, Theory, Practice) and Coimbra, Portugal (October 20-22, 2011; Subject: Diagnosis of Congenital Erythrocytosis); the level of satisfaction of trainees was high. Close interactions with COST Action TD0901 (Hypoxianet) were pursued, MPN&MPNr-EuroNet members being invited speakers in meetings of Hypoxianet and vice-versa. One Hypoxianet member was invited speaker of the Coimbra MPN&MPNr-EuroNet training school. Interactions and collaborations with two other COST Actions, BM0801 (EuGESMA) and BM1006 (SEQAHEAD) were started. A new European FP-7 project dedicated to genomics studies of MPN and related congenital diseases (MPD-Diag) was prepared and submitted. This new collaborative project includes 8 members of MPN&MPNr-EuroNet, the Chair of Hypoxianet (Prof. Roland Wenger, Zürich, CH) and he Chair of EuGESMA (Prof. Ken Mills, Belfast, UK). MPN&MPNr-EuroNet’s activities were presented at major meetings of international hematology societies: European Haematology Association (EHA, London, UK, June 2011), European Leukemia Net (ELN, Mannheim, DE, February 2011) and American Society of Hematology (ASH, San Diego, CA, USA, December 2011), and at the European Institute for Reference Materials and Measurements (IRMM, Geel, BE, September 2011). Finally, the 2012 work plan and budget were discussed and approved by MC members.

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I. Management Report prepared by the COST Office/Grant Holder

I.A. COST Action Fact Sheet • COST Action BM0902 - Network of experts in the diagnosis of myeloproliferative disorders (MPN&MPNr-EuroNet) • Domain Biomedicine and Molecular Bioscience • Action details:

CSO Approval: 26/05/2009 End date: 12/11/2013

Entry into force: 29/07/2009 Extension: (day/month/year) • Objectives (from DB as in About COST)

The main objective of the Action is to facilitate and improve the accuracy of the diagnosis of MPN

and related diseases in European countries. Philadelphia-negative myeloproliferative neoplasms

(MPN) and related congenital diseases are chronic blood diseases which had known little

improvement in diagnosis and treatment for decades. In 2005 the discovery in Europe of the V617F

mutation of JAK2 in MPN has renewed interest in these diseases. Since 2005, other mutations

have been discovered in MPN and related diseases. New diagnosis tools are being designed and

novel drugs are being tested. The objective of this COST Action, which regroups the main leaders

in the field of MPN research, diagnosis and patient care, is to establish a European Network of

experts in MPN and related congenital diseases, MPN&MPN-EuroNet. This Action will formalize

collaboration between European MPN experts in order to facilitate, optimize and standardize the

molecular diagnosis of MPN and congenital erythrocytosis and thrombocythemia in Europe. The

network will also centralize the diagnostic investigation of rare mutations of MPN and related

diseases. A website will provide protocols and other useful information regarding each of these

diagnostic assays. • Parties: list of countries and date of acceptance Country Date Status MoU: 217/09 CSO Approval date: 26/05/2009

Entry into force: 29/07/2009 End of Action: 12/11/2013

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Austria (date) Greece (date) Poland (date) Belgium (21/10/2010) Hungary (18/07/2011) Portugal (30/09/2009) Bulgaria (date) Iceland (date) Romania (22/11/2010) Croatia (pending - intention) Ireland (date) Serbia (date) Cyprus (date) Israel (04/03/2011) Slovakia (31/07/2009) Czech Rep. (21/10/2010) Italy (29/07/2009) Slovenia (date) Denmark (28/10/2009) Latvia (date) Spain (29/07/2009) Estonia (date) Lithuania (date) Sweden (03/12/2009) Finland (date) Luxembourg (date) Switzerland (21/10/2010) FYR of Macedonia (23/04/2010) Malta (date) Turkey (date) France (10/09/2009) Netherlands (29/07/2009) United Kingdom (29/07/2009) Germany (29/07/2009) Norway (date) • Intentions to accept: Croatia • Other participants: N/A

Chair:

Sylvie Hermouet Université de Nantes, INSERM U892 8 quai Moncousu, 44000 Nantes, France Phone: 0033 2 28 08 03 30 e-mail: [email protected]

DC Rapporteur: Prof. Marieta Costache University of Bucharest Department of Biochemistry and Molecular Biology, Faculty of Biology, 91-95 Spl Independentei, Bucharest 5 050095 Bucharest Romania Phone: 0040213181575/108 e-mail: [email protected]

Science Officer: Magdalena Radwanska e-mail: [email protected]

Administrative Officer: Anja Van Der Snickt e-mail: [email protected]

• Action Web site: http://www.mpneuronet.eu

http://w3.cost.esf.org/index.php?id=212&action_number=BM0902 • Grant Holder Representative(name, e-mail) Yves LECOINTE [email protected]

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• Working Groups (names and affiliations of participants) Total number of WG participants: 87 (vs 63 in 2010) Nb: in our action, members frequently participate in several WG WG1: Molecular diagnosis of JAK2-mutated MPN Chair: Prof. Niels Pallisgaard, Vejle (Denmark) Co-Chairs: Dr. Eric Lippert (France), Prof. Alessandro Vannucchi (Italy) Junior Chair: Dr. Barbara Denys (Belgium) Number of members: 56 (vs 33 in 2010)

Name First Name Country E-mail addresses

Alchalby Haefaa DE [email protected]

Andersen Morten DK [email protected]

Andrikovics Hajnalka HU [email protected]

Badbaran Anita DE [email protected]

Banescu Claudia RO [email protected]

Bellosillo Beatriz ES [email protected]

Bench Anthony UK [email protected]

Bidet Audrey FR [email protected]

Bourgne Céline FR [email protected]

Burjaninova Tatiana SK [email protected]

Carillo Serge FR [email protected]

Cassinat Bruno FR [email protected]

Cleyrat Cédric FR [email protected]

Cucuianu Andrei RO [email protected]

Delhommeau François FR [email protected]

Denys Barbara BE [email protected]

Dukovski Dusko MK [email protected]

Dulucq Stéphanie FR [email protected]

Enlund Frederik SE [email protected]

Girodon François FR [email protected]

Guglielmelli Paola IT [email protected]

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Hasselbalch Hans DK [email protected]

Hermans Mirjam NL [email protected]

Hermouet Sylvie FR [email protected]

Janel Alexandre FR [email protected]

Kaeda Jaspal DE [email protected]

Kjaer Lasse DK [email protected]

Kusec Rajko HR [email protected]

Lambert

Frédéric

BE

[email protected]

Langabeer Stephen IE [email protected]

Lippert Eric FR [email protected]

Lombardi Anna Maria IT [email protected]

Maffioli Margherita ES [email protected]

Marcinek Juraj SK [email protected] Maroc

Nicolas

FR

[email protected]

Martinez Joaquin ES [email protected]

Martinez-Aviles Luz Maria ES [email protected]

Naguib Dina FR [email protected]

Navaglia Filippo IT [email protected]

Oppliger-Leibundgut Elisabeth CH [email protected]

Ozbek Ugur TR [email protected]

Pallisgaard Niels DK [email protected]

Palmqvist Lars SE [email protected]

Panovska-Stavridis Irina MK [email protected]

Pietra Daniela IT [email protected]

Reading Scott USA [email protected]

Schmitt-Graeff Annette DE [email protected]

Schwarz Jiri CZ [email protected]

Sozer Tokdemir Selcuk TR [email protected]

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Trajkova Sanja MK [email protected]

Trifa Adrian RO [email protected]

Vadikolia Chrissa GR [email protected]

Vannucchi Alessandro IT [email protected]

Vilaine Mathias FR [email protected]

Westman Maj DK [email protected]

Zhelyazkova Antonina BG [email protected] WG2: Molecular diagnosis of thrombocythemia and primary myelofibroses with no mutation of JAK2 Chair: Prof. Jiri Schwarz (Czech Republik) Co-chair: Dr. Suzanne Schnittger (Germany) Junior Chairs: Dr. Naomi Porret (Switzerland), Luz Martinez-Aviles (Spain) Number of members: 63 (vs 42 in 2010)

Name First Name Country E-mail addresses

Alchalby Haefaa DE [email protected]

Andrikovics Hajnalka HU [email protected]

Badbaran Anita DE [email protected]

Bellosillo Beatriz ES [email protected]

Bench Anthony UK [email protected]

Bidet Audrey FR [email protected]

Bourgne Céline FR [email protected]

Bergamaschi Gaetano IT [email protected]

Besses Carlos ES [email protected]

Bogani Costanza IT [email protected]

Broseus Julien FR [email protected]

Burjanivova Tatiana SK [email protected]

Campr Vit CZ [email protected]

Carillo Serge FR [email protected]

Cassinat Bruno FR [email protected]

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Cevreska Lidija MK [email protected].

Colomer Dolors ES [email protected]

Coucelo Margarida PT [email protected]

Cucuianu Andrei RO [email protected]

Delhommeau François FR [email protected]

Denys Barbara BE [email protected]

Dukovski Dusko MK [email protected]

Dulucq Stéphanie FR [email protected]

Giraudier Stéphane FR [email protected]

Girodon François FR [email protected]

Guglielmelli Paola IT [email protected]

Hermouet Sylvie FR [email protected]

Hussein Kais DE [email protected]

Janel Alexandre FR [email protected]

Kralovics Robert AT [email protected]

Kusec Rajko HR [email protected]

Lambert Frédéric BE [email protected]

Langabeer Stephen IE [email protected]

Lombardi Anna Maria IT [email protected]

Maffioli Margherita ES [email protected]

Marcinek Juraj SK [email protected] Maroc

Nicolas

FR

[email protected]

Martinez-Aviles Luz ES [email protected]

McMullin Mary Frances UK [email protected]

Murati Anne FR [email protected]

Naguib Dina FR [email protected]

Navaglia Filippo IT [email protected]

Otahalova Eva CZ [email protected]

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Ozbek Ugur TR [email protected]

Pallisgaard Niels DK [email protected] Panovska-Stavridis Irina MK [email protected]

Pietra Daniela IT [email protected]

Plank Lukas SK [email protected]

Pospisilova Dagmar CZ [email protected]

Porret Naomi CH [email protected]

Rumi Elisa IT [email protected]

Schmitt-Graeff Annette DE [email protected]

Schnittger Susanne DE [email protected]

Schwarz Jiri CZ [email protected]

Sozer Tokdemir Selcuk TR [email protected]

Trajkova Sanja MK [email protected]

Skoda Radek CH [email protected]

Trifa Adrian RO [email protected]

Triviai Ioanna DE [email protected]

Vadikolia Chrissa GR [email protected]

Vilaine Mathias FR [email protected]

Wilkins Bridget UK [email protected]

Zhelyazkova Antonina BG [email protected] WG3: Molecular diagnosis of congenital erythrocytosis Chair: Prof. Mary Frances McMullin (United Kingdom) Co-chair: Prof. Melanie Percy (United Kingdom) Junior Chair: Kais Hussein (Germany) Number of members: 21 (vs 16 in 2010)

Name First Name Country E-mail addresses

Amorim Maria PT [email protected]

Bellosillo Beatriz ES [email protected]

Bento Celeste PT [email protected]

Boyer Françoise FR [email protected]

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Cario Holger DE [email protected]

Della Ragione Fulvio IT [email protected]

Dello Sbarba Persio IT [email protected]

Gardie Betty FR [email protected]

Hermouet Sylvie FR [email protected]

Hussein Kais DE [email protected]

Lombardi Anna Maria IT [email protected]

McMullin Mary Frances UK [email protected]

Neumann Drorit IL [email protected]

Percy Melanie UK [email protected]

Perrota Silverio IT [email protected]

Porret Naomi CH [email protected]

Rotunno Giada IT [email protected]

Schnittger Susanne DE [email protected]

Ugo Valérie FR [email protected]

Wenger Roland CH [email protected]

Wilkins Bridget UK [email protected] WG4: Scientific cooperation and communication Chair: Dr. Lars Palmqvist (Sweden) Co-Chairs: Dr. François Girodon (France), Prof. Heike Pahl (Germany) Number of members: 23 (vs 12 in 2010) Name First Name Country E-mail addresses

Bento Celeste PT [email protected]

Carillo

Serge

FR

[email protected]

Girodon

François

FR

[email protected]

Hasselbalch Hans DK [email protected]

Hermouet Sylvie FR [email protected]

Kaeda Jaspal DE [email protected]

Kralovics

Robert

AT

[email protected]

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Kusec

Rajko

HR

[email protected]

Lambert

Frédéric

BE

[email protected]

Lippert

Eric

FR

[email protected]

Lombardi

Anna Maria

IT

[email protected]

McMullin

Mary Frances

UK

[email protected]

Maroc Nicolas FR [email protected]

Oppliger Leibundgut

Elisabeth CH [email protected]

Pahl Heike DE [email protected]

Pallisgaard Niels DK [email protected]

Palmqvist Lars SE [email protected]

Panovska-Stavridis

Irina

MK

[email protected]

Plank Lucas SK [email protected]

Schwarz

Jiri

CZ

[email protected]

Vilaine Mathias FR [email protected]

Wenger Roland CH [email protected]

Zhelyazkova

Antonina

BG

[email protected]

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I.B. Management Committee member list Name Country E-mail Dr Laurent KNOOPS

Belgium (MC Member) [email protected]

Dr Rajko KUSEC

Croatia (MC Member)

[email protected]

Dr Jiri SCHWARZ Czech Republic (MC Member)

[email protected]

Ms Jana MARKOVA Czech Republic (MC Substitute Member)

[email protected]

Prof. Hans Carl HASSELBALCH

Denmark (MC Member) [email protected]

Dr Niels PALLISGAARD Denmark (MC Member) [email protected]

Mr Morten Tolstrup ANDERSEN

Denmark (MC Substitute Member)

[email protected]

Dr Thomas Stauffer LARSEN

Denmark (MC Substitute Member)

[email protected]

Dr Irina PANOVSKA-STAVRIDIS

Former Yugoslav Republic of Macedonia (MC Member)

[email protected]

Dr Nadica MATEVSKA Former Yugoslav Republic of Macedonia (MC Member)

[email protected]

Prof. Lidija CEVRESKA (Pending*)

Former Yugoslav Republic of Macedonia (MC Substitute Member)

Dr Sylvie HERMOUET France (MC Member) [email protected] Dr Eric LIPPERT France (MC Member) [email protected] Dr Francois GIRODON France (MC Substitute

Member) [email protected]

Dr Stephane GIRAUDIER France (MC Substitute Member)

[email protected]

Dr Attila TORDAI Hungary (MC Member) [email protected] Dr Hajnalka ANDRIKOVICS

Hungary (MC Member) [email protected]

Prof. Heike L. PAHL Germany (MC Member) [email protected] Dr Holger CARIO Germany (MC Member) [email protected] Dr Susanne SCHNITTGER Germany (MC Substitute

Member) [email protected]

Prof. Annette SCHMITT-GRAEFF

Germany (MC Substitute Member)

[email protected]

Prof. Drorit NEUMANN Israel [email protected] Prof. Alessandro Maria VANNUCCHI

Italy (MC Member) [email protected]

Dr Paola GUGLIELMELLI Italy (MC Substitute Member)

[email protected]

Dr Mirjam H.A. HERMANS Netherlands (MC Member) [email protected] Dr Celeste BENTO Portugal (MC Member) [email protected] Ms Margarida COUCELO Portugal (MC Member) [email protected] Dr Adrian Pavel TRIFA Romania (MC Member) [email protected] Dr Andrei CUCUIANU Romania (MC Member) Dr Minodora DOBREANU Romania (MC Substitute

Member) [email protected]

Dr Radu Anghel POPP Romania (MC Substitute Member)

[email protected]

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Dr Juraj MARCINEK Slovak Republic (MC Member)

[email protected]

Prof. Lukas PLANK Slovak Republic (MC Member)

[email protected]

Dr Dolors COLOMER Spain (MC Member) [email protected] Dr Beatriz BELLOSILLO PARICIO

Spain (MC Member) [email protected]

Dr Francisco CERVANTES Spain (MC Substitute Member)

[email protected]

Prof. Lars PALMQVIST (Pending*)

Sweden (MC Member) [email protected]

Dr Fredrik ENLUND Sweden (MC Substitute Member)

[email protected]

Dr Bjorn ANDREASSON (Pending*)

Sweden (MC Substitute Member)

[email protected]

Dr Elisabeth OPPLIGER LEIBUNDGUT

Switzerland (MC Member) [email protected]

Dr Naomi PORRET Switzerland (MC Substitute Member)

[email protected]

Prof. Mary Frances MCMULLIN

United Kingdom (MC Member)

[email protected]

Dr Melanie PERCY United Kingdom (MC Substitute Member)

[email protected]

Dr Claire HARRISON United Kingdom (MC Substitute Member)

[email protected]

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I.C. Overview activities and expenditure (year) Budget 2011 Total Action Budget: 70 774.93 Euros Remaining Action Commitment: 1225,07 Euros Meetings (reimbursement to participants) Meeting Type Date Place Country Cost Total

MC WG Workshops/Conference

06-08/04/2011 La Baule FR 22 597.56 Euros

22 597.56 Euros

WG Workshops/Conference

14-16/09/2011 Munich DE 20 400.21 Euros

20 400.21 Euros

STSM Beneficiary Date Place Country Cost Total

Tatiana Burjanivova From 27/11/2011 to 02/12/2011

Veije DK 1140 Euros

1140 Euros

Workshops (Local Organiser Support for meetings' organisation) Title Date Place Cost Total

From To MPN/MPNr-Euronet Third Meeting

06/04/2011 08/04/2011 La Baule FR 2586.57Euros

2586.57 Euros

MPN/MPNr-EuroNet Fourth Meeting

14/09/2011 16/09/2011 Munich DE 1343.36Euros

1343.36 Euros

General Support Grants (secretarial support) Beneficiary Date Cost Total

Université de Nantes

01/01/2011-31/12/2011 5000 Euros

5000 Euros

Schools Title Date Place Cost Total

Detection of mutations in MPN (qPCR, HRM): Theory, Practice

11-13/05/2011 Nîmes FR 6053.65Euros

6053.65 Euros

Molecular Diagnosis of Congenital Erythocytosis

20-22/10/2011 Coimbra PT 5808.65Euros

5808.65 Euros

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Dissemination Title Date Place Cost Total

creation and maintenance of the website for information to the 3rd meeting of MPN&MPNr-EuroNet

06-08/04/2011 La Baule FR 1400 Euros

1400 Euros

Maintenance for registration of the website for the 3rd meeting of MPN&MPNr-EuroNet

06-08/04/2011 La Baule FR 1050 Euros

1050 Euros

creation and maintenance of the website for information to the 4th meeting of MPN&MPNr-EuroNet

14-16/09/2011 Munich DE 1400 Euros

1400 Euros

Maintenance for registration of the website for the 4th meeting of MPN&MPNr-EuroNet

14-16/09/2011 Munich DE 945 Euros

945 Euros

Creation, maintenance and registration of the website for the 1st and 2nd Training School of MPN&MPNr-EuroNet

11-13/05/2011 Nîmes PT 1925 Euros

1925 Euros

Maintenance and registration of the website for the 2nd Training School of MPN&MPNr-EuroNet

11-13/05/2011 Nîmes PT 350 Euros

350 Euros

Others None

Action Total : 72 000

Euros

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II. Scientific Report prepared by the Chair of the Management Committee of the Action, describing results achieved during the Action operation in this period, in no more than 3 pages (the report is “cumulative”). All items listed in Sections A, B, and C, below, must be addressed. II.A. Innovative networking • Innovative knowledge resulting from COST networking through the Action. (Specific

examples of Results vs. Objectives) Innovation and new knowledge resulting in 2011 from the 4 WG of COST Action BM0902: WG1: MPN&MPNr-EuroNet WG1 (“Molecular diagnosis of JAK2-mutated MPN”) joined efforts with European Leukemia Net (ELN) WP 12 (Molecular Residual Disease) to complete the comparative study of JAK2V617F assays. Three assays, all Taqman-based assays with primer-based specificity, were determined as reference assays. These results will be presented at the coming ASH meeting in San Diego, CA (USA) in December 2012, and a publication is in preparation. Guidelines for the detection of JAK2V617F and other mutations of JAK2 are also being written. In addition, contacts have been taken with EU Institute for Reference Materials and Measurements (IRMM) in view of the production of JAK2V617F reference materials; a specific task group has been formed for this purpose. Also, collection and analysis of cases with low JAK2V617F allele burden; of cases with JAK2 exon 12 mutations; and of cases with multiple mutations of JAK2 has been started and will go on. WG2: MPN&MPNr-EuroNet WG2 (“Molecular diagnosis of thrombocythemia and primary myelofibrosis with no mutation of JAK2”) created a new subgroup dedicated to the histopathology of MPN; a new multicenter study aiming to describe the bone marrow histopathology of MPN with MPL mutation has been started. In 2011 WG2 also conducted the first European quality control of MPL mutation detection. Recommendations for MPL exon 10 and other gene mutation detection for the diagnosis of MPN and hereditary thrombocytosis are in preparation. WG3: MPN&MPNr-EuroNet WG3 (“Molecular diagnosis of congenital erythrocytosis”) up-dated relevant informations on the network’s website and actively pursued cooperation with Hypoxianet (COST Action TD-0901) with the aim to discover new gene alterations causing erythrocytosis. In 2011 WG3 set up a data base of familial erythrocytosis patients, and initiated three new collaborative studies: a histopathology study of erythrocytosis cases; a study of pregnancy in females with erythrocytosis; and a study of VHL heterozygous individuals. A joint MPN&MPNr-EuroNet WG3/Hypoxianet review on idiopathic erythrocytosis is currently in revision.

WG4: MPN&MPNr-EuroNet WG4 (“Scientific cooperation and communication”) kept MPN&MPNr-EuroNet’s website up-dated, including the Intranet part (see http://www.mpneuronet.eu). A Newsletter and a “Jobs & Positions” page were created. WG4 recruited new members (membership increased from 63 members in 2010 to 90 members now) and 3 new countries (Croatia, Israel, Hungary).Two international meetings were organized in April in La Baule (FR) and in September in Munich (DE). Specific sessions were dedicated to the histopathology of MPN, to erythropoietin and its receptor, to cross-talk between Jak/Stat and hypoxia signalling, to new molecular markers in MPN, and to next-generation sequencing in MPN. These meetings attracted 44 and 47 participants, from 15 and 17 European countries, respectively (see abstract books and reports of the meetings on the network’s website: www.mpneuronet.eu). Preparations for the 2012 meetings (Belfast (UK), March 7-9, 2012 and Billund (DK), October 24-26, 2012) have begun. Contacts were taken with COST action BM1006 (SEQAHEAD), dedicated to next-generation sequencing, and the chairs of both actions have agreed to organize a joint session during the 6th MPN&MPNr-EuroNet meeting in Billund in 2012. Two training schools were organized, one in Nîmes (FR) (May 11-13, 2011) dedicated to the molecular diagnosis of mutations in MPN, the other in Coimbra (PT) (October 20-22, 2011), dedicated to the molecular diagnosis of congenital erythrocytosis. Both training schools were very successful, attracting the maximum number of trainees planned (10 and 15, respectively) and the

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trainees expressed a high level of satisfaction (see abstract books and reports of the two training schools on the network’s website, www.mpneuronet.eu). Finally, WG4 prepared a new project, called “European Genomics Initiative for MyeloProliferative Diseases Diagnostics”, or “MPD-Diag”. This is a genomics research proposal in response to the 2012 FP-7 Health calls on rare diseases. The MPD-Diag proposal was prepared in cooperation with the Chairs of COST action TD0901 (Roland Wenger) and COST Action BM801 (Ken Mills), who are partners of the project. It was submitted on September 30th, 2011. Results of the first step of selection are expected in December 2011. If positive, we will prepare the full project with the help of Inserm Transfert, in time for submission in February 2012. Results of the second step of selection will be known in April 2012. Of note, the new MPD-Diag project includes the creation of a European registry of patients with MPN, congenital erythrocytosis, or hereditary thrombocytosis. Interactions and collaborations with COST Action BM1006 (Network for next-generation sequencing data analysis, or Seqahead) are planned to help in the MPD-Diag project.

• Significant scientific breakthroughs as part of the COST Action. (Specific examples)

WG1 - Identification of three JAK2V617F reference assays - Guidelines for the detection of JAK2V617F and other mutations of JAK2 - List of all JAK2 exon 12 mutations discovered in MPN patients

WG2 - First European quality control of MPL mutation detection - Recommendations for MPL exon 10 and other gene mutation detection in MPN

WG3 - Data base of familial erythrocytosis patients - Joint MPN&MPNr-EuroNet WG3/Hypoxianet review on idiopathic erythrocytosis (in revision)

WG4 - New “MPD-Diag” project: European Genomics Initiative for MPD Diagnostics, in response to

the 2012 FP-7 Health calls

• Tangible medium term socio-economic impacts achieved or expected. (Specific examples)

-Cooperation between MPN&MPNr-EuroNet WG1, European Leukemia Net, IRMM and the Ipsogen company (Marseille, France) will continue, with the objective to define and produce reference materials for JAK2V617F assays - Annual European quality control of MPL mutation detection will now be organized - Joint MPN&MPNr-EuroNet / HypoxiaNet studies will go-on until completion - MPN&MPNr-EuroNet website (http://www.mpneuronet.eu) will continue to be up-dated with the latest information on novel techniques, scientific findings relative to the diagnosis of MPN and related congenital cases, as well as information on new jobs and post-doc positions - Every year, in the spring and in the fall, an international meeting with specific sessions dedicated to congenital erythrocytosis, hereditary thrombocytosis and the novelties in the molecular diagnosis of MPN will be organized - Every year in the spring, an international training school dedicated to the molecular diagnosis of mutations in MPN will be organized, in Nîmes (FR) - Every other year, in the fall, an international training school dedicated to the molecular diagnosis of congenital erythrocytosis will be organized, in Coimbra (PT)

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• Spin off of new EC RTD Framework Programme proposals/projects. (List)

Submission of a new project called “European Genomics Initiative for MPD Diagnostics (MPD-Diag)” in response to FP-7 2012 Health calls on rare diseases. This new project involves 7 countries and 10 partners: 8 MPN&MPNr-EuroNet members, the Chair of Hypoxianet and the Chair of EuGESMA.

• Spin off of new National Programme proposals/projects. (List) None

II.B. Inter-disciplinary networking • Additional knowledge obtained from working with other disciplines within the COST

framework. (Specific examples) Active cooperation between MPN&MPNr-EuroNet WG3 and Hypoxianet (COST Action TD0901), with on-going joint studies. Cooperation between MPN&MPNr-EuroNet and EuGESMA (COST Action BM0801) initiated in May 2011. Cooperation between MPN&MPNr-EuroNet and SEQAHEAD (COST Action BM1006) initiated in September 2011. Contacts were taken to organize a joint MPN&MPNr-EuroNet/SEQAHEAD meeting in 2012. Preparation and submission of a new project called “European Genomics Initiative for MPD Diagnostics (MPD-Diag)” in response to FP-7 2012 Health calls on rare diseases. This new project involves 7 countries and 10 partners: 8 MPN&MPNr-EuroNet members, the Chair of Hypoxianet and the Chair of EuGESMA. Collaboration with SEQAHEAD is planned.

• Evaluation of whether the level of inter-disciplinarity is sufficient to potentially provide

scientific impacts. (Specific examples) See above

• Evaluation of whether the level of inter-disciplinarity is sufficient to potentially provide socio-economic impacts. (Specific examples)

Does not apply at this time

II.C. New networking

• Additional new members joining the Action during its life. Colleagues from 3 new countries – Croatia, Israel and Hungary – joined MPN&MPNr-EuroNet in 2011. Colleagues from 5 other countries - Bulgaria, Greece, Norway, Serbia and Turkey - have joined as WG members (see lists of MC members and WG members).

• Total number of individual participants involved in the Action work. (Number of participants.

Give % of female and of Early Stage Researcher participants)

Number of individual participants involved in COST Action BM-0902 work: 90 (vs 63 in 2010 and 31 in 2009)

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% of female participants: 53.3% (48/90) (vs 50.8% (32/63 in 2010) % of Early Stage Researcher (ESR) participants: 30.0% (27/90) (vs 30.2% (19/63) in 2010)

• Involvement of Early Stage Researchers in the Action, in particular with respect to STSMs,

networking activities, and Training Schools. In addition, justification should be provided if less than 4 STSMs were carried out during the year.

To enhance active participation of ESRs to MPN&MPNr-EuroNet activities, five ESRs are Junior Chairs: Barbara Denys (BE), in WG1; Naomi Porret (CH) and Luz Maria Martinez-Aviles (ES), in WG2; Hussein Kais (DE), in WG3; and Mathias Vilaine (FR), in WG4. Oral communications by ESRs: In 2011 MPN&MPNr-EuroNet offered scholarships to help ESRs participate to the 2 network’s meetings. Short talk sessions were created specifically to give ESR the opportunity to present their work. Thanks to these decisions, 6 ESRs were speakers at MPN&MPNr-EuroNet 2011 meetings: Kais Hussein (DE), Juraj Marcinek (SK), Jana Markova (CZ), Ioanna Triviai (DE), Lasse Kjaer (DK) and Mathias Vilaine (FR) ESR Education Session: ESRs proposed to create and organize a new Education Session, for ESRs but available to all. The first such education session will take place during the network’s 5th meeting in Belfast (March 7-9, 2012): the invited speaker will be Dr. Robert Kralovics (Vienna, AT), who will speak of SNP arrays and of their application in MPN. A 30 minute questions/answers session will follow Dr. Kralovics’s presentation, so that ESRs have time to interact with the expert. Dedicated website pages: ESRs proposed to create and up-date new pages on the network’s website: a Newsletter page, to be up-dated every two months; and a webpage dedicated to “Job offers and post-doc positions”. STSMs: one ESR benefited from a STSM in 2011: Tatiana Burjanivova (SK), who went to Veijle (DK). It appears that currently MPN&MPNr-EuroNet ESRs consider that training schools answer much better to their needs than STSMs.

Training schools: MPN&MPNr-EuroNet organized two training schools in 2011, and both were highly successful. 1. Training School I: Molecular detection of mutations in MPN

Location & dates: Nîmes (FR), May 11-13, 2011 Organizer: Dr. Serge Carillo Participants: 10, from 8 countries (DE, DK, ES, FR, IT, PT, TR, UK) Report and slide presentations of speakers are available on the network website (www.mpneuronet.eu) It was decided that this training school will be organized every year: the next is scheduled for May 9-11, 2012 (same organizer, same location)

2. Training School II: Molecular diagnosis of congenital erythrocytosis Location & dates: Coimbra (PT), October 20-22, 2011 Organizer: Dr. Celeste Bento Participants: 15, from 6 countries (CZ, ES, FR, IT, PT, TR) Report and slide presentations of speakers are available on the network website (www.mpneuronet.eu) It was decided that this training school will be organized every other year: the next is scheduled for October 2013 (same organizer, same location)

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• Involvement of researchers from outside of COST Countries. (Number of participants from

non-COST Countries approved by the CSO. Give % of such participants from countries with reciprocal agreements. Specify their contribution)

One participant from Israel – WG3 member and speaker to La Baule Meeting One participant from the USA – WG1 member

• Advancement and promotion of scientific knowledge through publications and other outreach activities. (Number of publications and other outreach activities that resulted from COST networking through the Action. Complete list should be given in an annex)

- Publications mentioning COST Action BM0901 (MPN&MPNr-EuroNet): 1. Girodon F, Steinkamp MP, Cleyrat C, Hermouet S, Wilson BW. Confocal imaging

studies cast doubt on nuclear localisation of Jak2V617F. Blood 2011; 118: 2633-4 2. Hermouet S, Vilaine M. The JAK2 46/1 haplotype: a marker of inappropriate

myelomonocytic response to cytokine stimulation, leading to increased risk of inflammation, myeloid neoplasm, and impaired defense against infection? Haematologica 2011; 96:1575-9

3. Vilaine M, Olcaydu D, Harutyunyan A, Bergeman J, Mourad T, Ramée J-F, Chen J-M, Kralovics R, Hermouet S. Homologous recombination of wild-type JAK2, a novel early step in the development of myeloproliferative neoplasm. Blood 2011; in press

- Publication, in revision:

1. Wenger RH, Hermouet S, McMullin MF. Two new European Cooperation in Science and Technology (COST) networks, HypoxiaNet and MPN&MPN-EuroNet, to facilitate diagnosis and support research in congenital/hereditary erythrocytosis.

- Publication, in preparation:

1. MPN&MPNr-EuroNet WG 1 and European Leukemia Net (ELN) WP 12 definition of the best, reference quantitative JAK2V617F assay (Taqman-based assays with primer-based specificity)

- Abstract book of MPN&MPNr-EuroNet Third meeting (April 6-8, 2011, La Baule, FR) - Abstract book of MPN&MPNr-EuroNet Fourth meeting (September 14-16, 2011, Munich, DE) - Booklet of MPN&MPNr-EuroNet Training School on the Molecular Diagnosis of Congenital

Erythrocytosis (October 20-22, 2011, Coimbra, PT)

- Oral communications: ELN annual meeting, Working Group 12, Feb. 2011, Mannheim (DE) SFH annual meeting, March 2011, Paris (FR)

- Posters : EHA annual meeting, June 2011, London (UK)

ASH annual meeting, December 2011, San Diego, CA (USA) German-speaking Hematology Societies, October 2011, Basel (CH)

Nb: abstract books, meetings reports, WG reports, slide presentations of the various meetings and training schools, as well as original articles, reviews and editorials are available in the Intranet section of the MPN&MPNr-EuroNet’swebsite: http://www.mpneuronet.eu

• Activities and projects with COST network colleagues. Active cooperation between MPN&MPNr-EuroNet and 3 other COST Actions: HypoxiaNet (COST Action TD0901), EuGESMA (COST Action BM0801) and SEQAHEAD (COST Action BM1006)

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• The capacity of the Action members to raise research funds. Submission of a new project called “European Genomics Initiative for MPD Diagnostics (MPD-Diag)” in response to FP-7 2012 Health calls on rare diseases. This new project involves 7 countries and 10 partners: 8 MPN&MPNr-EuroNet members, the Chair of Hypoxianet and the Chair of EuGESMA.

II.D. Self evaluation Indicate in no more than 1 page what, in the opinion of the MC, were the main successes, drawbacks and the key difficulties encountered. Main successes:

-­‐ Clear increase in member registration (63 -> 90) -­‐ New projects -­‐ Creation of new subgroups within WG2 -­‐ Creation and successful organization of two new training schools (Nîmes, Coimbra) -­‐ Successful organization of two meetings (La Baule, Munich) -­‐ Volunteers to organize the 2012 and 2013 meetings (in UK, DK, MK, CZ) -­‐ Satisfaction of participants to meetings and training schools, notably ESRs -­‐ Recent contacts with and registration of colleagues from 6 new countries (Bulgaria, Croatia,

Greece, Hungary, Serbia, Norway) -­‐ Recent meeting at EU research centre IRMM in Geels (BE) about the production of

JAK2V617F and MPLW515 reference materials -­‐ Sustained and satisfying collaboration with Hypoxianet (COST Action TD0901) and with

European Leukemia Net (ELN) -­‐ New interactions with COST Actions BM0801 (EuGESMA) and BM1006 (SEQAHEAD) -­‐ Preparation and submission of a new collaborative project “European Genomics Initiative for

MPD Diagnostics” (MPD-Diag) in response to FP-7 2012 Health calls on rare diseases. This new project involves 7 countries and 10 partners: 8 MPN&MPNr-EuroNet members, the Chair of Hypoxianet, and the Chair of EuGESMA.

-­‐ Contacts with COST Action BM1006 (SEQAHEAD) in view of the organization of a joint MPN&MPNr-EuroNet/SEQAHEAD meeting in Billund (DK) in October 2012.

Drawbacks:

- Decreased 2011 budget - Slow progress of some of the WG projects - Paucity of STSM applicants - Difficulty in finding colleagues willing to spend time up-dating the network website - Necessity to re-organize WG4 - Difficulties for colleagues to spread information about the network in their country - Absence of answer from colleagues from Poland and the Baltic countries

Key difficulties:

- Too much “paperwork” - Double, parallel accounting of expenses, obligatory since COST funds do not cover all

expenses (of meeting and training school organization, for instance) - Unrealistic demands to disseminate information on COST Actions on TV and other media

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III. Previous scientific report: Year 2010 A. Innovative networking • Innovative knowledge resulting from COST networking through the Action. (Specific

examples of Results vs. Objectives) In 2010 MPN&MPNr-EuroNet WG 1 (“Molecular diagnosis of JAK2-mutated MPN”) joined efforts with European Leukemia Net (ELN) WP 12 (Molecular Residual Disease) and defined the best quantitative JAK2V617F assays: Taqman-based assays with primer-based specificity. These results will be submitted to publication in 2011.

In 2010 MPN&MPNr-EuroNet WG 2 (“Molecular diagnosis of thrombocythemia and primary myelofibroses with no mutation of JAK2”) fostered the discovery of new mutations in the THPO and MPL genes in cases of hereditary thrombocytosis. Collaborations were set up to study the functional consequences of the novel mutations. Under the guidance of the leading expert in the field, Prof. Radek Skoda, from Basel (CH), a new subgroup dedicated to the study of hereditary thrombocytosis was created.

In 2010 MPN&MPNr-EuroNet WG 3 (“Molecular diagnosis of congenital erythrocytosis”) established guidelines for the molecular diagnosis of congenital erythrocytosis, gathered lists of laboratories in Europe which can analyse the different genes altered in congenital erythrocytosis cases, and posted these informations on the network’s new website. With the aim to discover new gene alterations causing erythrocytosis, cooperation with HypoxiaNet (COST Action TD-0901) was initiated.

In 2010 MPN&MPNr-EuroNet WG 4 (“Scientific cooperation and communication”) created the new MPN&MPNr-EuroNet website (see http://www.mpneuronet.eu) and started to work on the Intranet part of the network’s website. Two international meetings with specific sessions dedicated to congenital erythrocytosis, hereditary thrombocytosis and the novelties in the molecular diagnosis of MPN were organized, attracting participants from 16 European countries.

• Significant scientific breakthroughs as part of the COST Action. (Specific examples)

-Cooperation between MPN&MPNr-EuroNet WG 1 and European Leukemia Net WP 12 (Molecular Residual Disease), leading to the definition of the best quantitative JAK2V617F assays: Taqman-based assays with primer-based specificity. -New mutations in the THPO and MPL genes in hereditary thrombocytosis. -Cooperation between MPN&MPNr-EuroNet WG 3 and HypoxiaNet (COST Action TD-0901). -New website (http://www.mpneuronet.eu) dedicated to the diagnosis of MPN and related congenital diseases. -New international meetings with specific sessions dedicated to congenital erythrocytosis, hereditary thrombocytosis and the novelties in the molecular diagnosis of MPN.

• Tangible medium term socio-economic impacts achieved or expected. (Specific examples)

-Cooperation between MPN&MPNr-EuroNet WG 1 and European Leukemia Net will continue, with the objective to define reference materials for the different JAK2 assays. -Reference materials for the analysis of THPO and MPL genes will be prepared and tested by European laboratories participating to MPN&MPNr-EuroNet. -Joint MPN&MPNr-EuroNet and HypoxiaNet studies will be initiated. -MPN&MPNr-EuroNet website (http://www.mpneuronet.eu) will continue to be up-dated with the latest information on novel techniques and scientific findings relative to the diagnosis of MPN

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and related congenital ceases. -Every year, in the spring and in the fall, an international meeting with specific sessions dedicated to congenital erythrocytosis, hereditary thrombocytosis and the novelties in the molecular diagnosis of MPN will be organized.

• Spin off of new EC RTD Framework Programme proposals/projects. (List)

None

• Spin off of new National Programme proposals/projects. (List) None

B. Inter-disciplinary networking • Additional knowledge obtained from working with other disciplines within the COST

framework. (Specific examples) Active cooperation between MPN&MPNr-EuroNet WG 3 and HypoxiaNet (COST Action TD-0901) should lead to the development of novel joint studies, bringing results in the coming years.

• Evaluation of whether the level of inter-disciplinarity is sufficient to potentially provide

scientific impacts. (Specific examples) See above

• Evaluation of whether the level of inter-disciplinarity is sufficient to potentially provide socio-economic impacts. (Specific examples)

Does not apply at this time

C. New networking

• Additional new members joining the Action during its life. Colleagues from 5 new countries – Belgium, Czechia, the Republic of Makedonia, Romania, Switzerland – joined MPN&MPNr-EuroNet in 2010 (see lists of MC members and WG members).

• Total number of individual participants involved in the Action work. (Number of

participants. Give % of female and of Early Stage Researcher participants)

Number of individual participants involved in COST Action BM-0902 work: 63 (vs 31 in 2009) % of female participants: 50.8% (32/63) % of Early Stage Researcher (ESR) participants: 30.2% (19/63)

• Involvement of Early Stage Researchers in the Action, in particular with respect to

STSMs, networking activities, and Training Schools. In addition, justification should be provided if less than 4 STSMs were carried out during the year.

In 2010 MPN&MPNr-EuroNet offered eight ESR scholarships to help ESRs participate to the network’s meetings. Short talk sessions were created specifically to give ESR the opportunity to present their work. Thanks to these decisions, four ESRs were speakers at MPN&MPNr-EuroNet 2010 meetings: Eva Otáhalová (CZ), Luz Maria Martinez-Aviles (ES), Julien Broseus (FR) and Tatiana Burjanivova (SK). To further enhance active participation of ESRs to MPN&MPNr-EuroNet activities, after a call for volunteers four ESRs were appointed Junior Chairs of the network’s working groups:

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Barbara Denys (BE), in WG 1; Naomi Porret (CH) and Luz Maria Martinez-Aviles (ES), in WG 2; and Hussein Kais (DE), in WG 3. Regarding STSMs: two ESRs benefited from STSM in 2010: Luz Maria Martinez-Aviles (ES), who came to Nantes (FR), and Mathias Vilaine (FR), who went to Vienna (AT). Two additional STSMs were planned for the last trimester of 2010, but ESRs had to be re-schedule their STSM to 2011 for laboratory and personal reasons. Training schools: MPN&MPNr-EuroNet did not organize training schools in 2010 but two training schools are planned for 2011.

• Involvement of researchers from outside of COST Countries. (Number of participants

from non-COST Countries approved by the CSO. Give % of such participants from countries with reciprocal agreements. Specify their contribution)

None at this time

• Advancement and promotion of scientific knowledge through publications and other

outreach activities. (Number of publications and other outreach activities that resulted from COST networking through the Action. Complete list should be given in an annex)

- Publication, submitted: Wenger RH, Hermouet S, McMullin MF. Two new European Cooperation in Science and Technology (COST) networks, HypoxiaNet and MPN&MPN-EuroNet, to facilitate diagnosis and support research in congenital/hereditary erythrocytosis.

- Publication, in preparation:

MPN&MPNr-EuroNet WG 1 and European Leukemia Net (ELN) WP 12 definition of the best, reference quantitative JAK2V617F assay (Taqman-based assays with primer-based specificity): will be submitted to publication in 2011

- Abstract book of MPN&MPNr-EuroNet First meeting (April 14-16, 2010, Nantes, France) - Abstract book of MPN&MPNr-EuroNet Second meeting (October 3-4, 2010, Albufeira,

Portugal) - Oral communication: EHA annual meeting, Scientific Working Group MPD, June 2010,

Barcelona, Spain - Poster : ESH MPD Conference, September 2010, Albufeira, Portugal

Nb: abstract books, meetings reports and WG reports are available in the Intranet section of the MPN&MPNr-EuroNet’swebsite: http://www.mpneuronet.eu

• Activities and projects with COST network colleagues.

Active cooperation between MPN&MPNr-EuroNet and HypoxiaNet (COST Action TD-0901)

• The capacity of the Action members to raise research funds. MPN&MPNr-EuroNet research funds: none at this time

D. Self evaluation Indicate in no more than 1 page what, in the opinion of the MC, were the main successes, drawbacks and the key difficulties encountered. Main successes:

-­‐ Attracting leading experts in the MPN field as active members of MPN&MPNr-EuroNet -­‐ Creation of website

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-­‐ Collaboration with European Leukemia Net and HypoxiaNet -­‐ Numerous projects suggested and started -­‐ Creation of a new subgroup within WG2 -­‐ Satisfaction of participants, notably ESRs -­‐ Recent contacts with colleagues from Serbia, Turkey, Israel -­‐ Recent contacts with colleagues from the USA (NY, UT) -­‐ Recent contacts with colleagues from research laboratories considering the standardization

of the interpretation of SNP arrays performed for the understanding of MPN Drawbacks:

- Paucity of volunteers to organize meetings in 2010 and 2011 - Decreased 2011 budget - Absence of answer from colleagues from Greece, Hungary, Ireland, Poland... - Difficulty in finding colleagues willing to actively recruit new members, or spread information

about the network in their own country Key difficulties:

- Too much paperwork - Conflicting COST and local accounting rules - Double, parallel accounting of expenses, obligatory since COST funds do not cover all

expenses (of meeting organization, for instance) - Rigidity of COST re-imbursement rules, especially in the context of unpredictable events,

such as the eruption of the Islandic volcano...