Management Committee Meeting. COST Action BM1208 European Network of Congenital Imprinting Disorders

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2 Management Committee Meeting COST Action BM1208 European Network of Congenital Imprinting Disorders 1

3 1. Welcome 2. Adoption of Agenda 3. Approval of minutes and matters arising of last meeting (May 14th 2013, Brussels) 2

4 4. Update from the Action Chair 3

5 a) Status of Action May 2013: 11 countries October 2013: 20 countries 2 pending Israel, Switzerland 4

6 a) Status of Action COST Action BM1208 started on 2 nd June 2013 Kick-Off Meeting: 14 th May 2013, Brussels Scientific Committee Meeting: 11 th June 2013, Paris MC Meeting: 8 th October 2013, Aachen 5

7 Meeting in Aachen Combined Meeting of Management Committee, Working Groups and Steering Committee on 8/9. October 2013 Reimbursement of Costs: Travel: ,- Accommodation: 100 / night incl. Breakfast Local Transport: average of 40 Meals: max. 7 meals 20 each 6

8 b) Action Budget Status Instument Quantity Budget Meetings Training Schools STSMs Dissemination Science Expenditure FSAC* (15%) Total Expenditure *Financial and Scientific Administration and Coordination 7

9 b) Action Budget Status Project Duration 02/06/ /05/2017 Budget allocated from 01/06/ /05/2014: First Intermediate Financial Report on 30 th November 2013 Amendment of the MoU on 30 th November 2013 European Commission Financial Report 15th January

10 c) STSM status and new applications 4 per year (2500 budget/mission) First call will be after Aachen Judging STSMs by the following criteria: a) Proposal in line with objective b) Content c) Budget d) Benefit of the idea and is it likely to lead in a joint publication OR clinical training Online application available on: 9

11 5. Promotion of Gender Balance and of Early Stage Researchers (ESR) 10

12 Gender Balance 11

13 Early Stage Researchers Short Term Scientific Missions= 4x ID School: ~40 grants x ~500 12

14 6. Update from the Grant Holder 13

15 Action Budget Instrument Date Budget Spent Remaining Steering Committee 11/06/ , , ,11 Management + WG Meeting* 08-09/10/ , , ,00 Training Schools 19-21/05/ ,00 0, ,00 STSM ,00 0, ,00 Dissemination 2.000,00 0, ,00 Other 0,00 0,00 0,00 TOTAL SCIENCE , , ,11 Secretarial support (15%) , , ,07 TOTAL , , ,18 * forecast 14

16 7. Update from the COST Office Jeannette Nchung Oru 15

17 8. Update from the DC Rapporteur Dr. Janna DE BOER (NL) 16

18 9. Annual Progress Conference Dr. Janna DE BOER (NL) 17

19 Annual Progress Conference Domain Biomedicine and Molecular Biosciences (BMBS), Riga/LV, May COST Actions in the BMBS Domain Evaluation of the Actions by: i) visibility ii) dissemination of knowledge iii) short time scientific missions (STSM collaborative visits) iv) patient participation and impact 18

20 10. Follow-up of MoU objectives progress reports of working groups, will be presented during the WG meeting Inventory phase (questionnaire), results will be presented during the WG meeting 19

21 Amendment of MoU Increased number of participating countries 11 => 20 Amendment after 6 months of action duration Starting budget: Amended budget: In future: separate WG meetings 20

22 11. Scientific Planning 21

23 a) Scientific strategy 22

24 b) Action Budget Planning Instrument Date Budget Spent Remaining after amendment Steering Committee 11/06/ , , ,11 Management + WG Meeting 08-09/10/ , , ,00 Training Schools 19-21/05/ ,00 0, ,00 STSM ,00 0, ,00 Dissemination 2.000,00 0, ,00 Other 0,00 0,00 0,00 TOTAL SCIENCE , , , ,85 Secretarial support (15%) , , , ,98 TOTAL , , , ,82 23

25 c) Long-term planning ID School EUROPEAN IMPRINTING DISORDER SCHOOL May 19 th -21 st 2014 Paris, France Location : 24

26 c) Long-term planning Organisation: Steering Committee (AR-AL-KT-IN-TE) Budget: SANDOZ: venue, housing, meals COST: Grants for ESR >30 x ~500 = > trainers EUCID via TRR = LOS= / new rule for LOS Total: > Further details will be presented in the WG5 session 25

27 Next/Future meetings Annual ID School (1st ID School in May 2014) MC Meetings: - In spring: in conjunction with international conferences ( , ESHG meeting) - In Autumn: in conjunction with the WG4/5 meeting (location and date will be announced asap) NEW: Separate WG meetings WG1-3, to be announced 26

28 d) Dissemination planning Details will be presented in the WG5 session Logo/Acronym Website: 27

29 d) Dissemination planning Stakeholders: EURORDIS, IRDiRC, EUCERD, EMQN, Clinical Epigenetics Publications: Orphanet News, Clinical Utility Gene cards, cooperative publications (research, reviews; national / international) Satellite meetings in conjunction with International Conferences (e.g. ESHG 2014?) Patients support groups 28

30 12. Request for new members 13. Non-COST country participation: USA, CAN, AUS (new status) 14. AOB 15. Location and date of next meeting: ID school in May 2014 MC meeting in course of the ESHG meeting Summary of MC decisions 29

31 Country: LITHUANIA Principal investigator (title, position, institution): Vaidutis Kučinskas, prof., PhD, Habil.dr. Head of Human Genome research centre, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University Group members: Aušra Morkūnienė, PhD, Algirdas Utkus, Prof., MD, PhD, Laima Ambrozaitytė, PhD, Birutė Tumienė

32 COST Lithuanian (BM1208) group Group members: Algirdas Utkus, Prof., MD, PhD, Laima Ambrozaitytė, PhD, Aušra Morkūnienė, PhD, Birutė Tumienė Principal investigator: Vaidutis Kučinskas, prof., PhD, Habil.dr. Head of Human Genome research centre, Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University

33 Focus of research: Epilepsy phenotypes in imprinting disorders Imprinting disorders of interest: Angelman and Prader-Willi syndromes Aims/objectives and strategies for the research: To define epileptic phenotypes in imprinting disorders. Techniques employed: ABI PRISM TM 3130xl (Applied Biosystems) Techniques available: Genomics: SOLiD 5500 (Applied Biosystems), HiScanSQ (Illumina), PyroMark Q24 (Qiagen), ABI PRISM TM 7900HT (Applied Biosystems) Chromosomal microarray SureScan Microarray Scanner (Agilent Techonologies) Funding of the research: No

34 Biobank, : Prader-Willi syndrome: 16pts. Angelman syndrome: 4pts. Silver-Rusell syndrome: 7pts. Beckwith-Wiedemann syndrome: 2pts. Transient neonatal diabetes mellitus (TNDM ), Temple syndrome, Wang syndrome, pseudohypoparathyroidism Ib and related dis. no pts.

35 Diagnostic methods employed: MLPA

36 Angelman syndrome 18-years-old female. Normal perinatal period. Failure to thrive, severe psychomotor developmental retardation in infancy. Severe intellectual disability, no speech, ataxia, subatrophia n.optici, marked obesity in childhood. Epileptic phenotype: febrile seizures from age 1y.8m., infantile spasms from age 3y. EEG: multifocal epileptic activity with generalization, frequent polymorphic discharges in EEG despite not evolving clinical seizures from the age 7y. 2-years-old female. Normal perinatal period. Psychomotor retardation: at the age of 2 years the patient has no speech, no ability to walk and stand. Epileptic phenotype: infrequent myoclonic seizures during sleep from the age 1 year. EEG: abnormal slow-wave activity, isolated epileptiform discharges mostly in the parietooccipital regions.

37 Prader-Willi syndrome

38 Greetings from Lithuania!! Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University