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International Cardiovascular Genomic Medicine Conference

October 30 - October 31

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PROGRAMME
DAY 1: 30 October 2017

08:30 Registration/ Coffee

09:15 Welcome/ Introduction Professor Dhavendra Kumar

SESSION I: CONGENITAL CLINICAL CARDIOLOGY

CHAIRS: DR. JUAN KASKI, GOSH, LONDON, ENGLAND, UK
DR. GRAHAM STUART, BRISTOL, UK

09:20 ‘New genomic and molecular insights in cardiovascular development’
Dr. Jean Luc Balligand , UH Brussels, Belgium

09:40 ‘Genomic profiling in monogenic malformation syndromes with cardiovascular phenotype’
Dr. Catherine Mercer, Southampton, UK

10:00 Biallelic truncating mutations in PKP2 underlie hypoplastic left heart syndrome
Judith M.A. Verhagen, Rotterdam, The Netherlands

10:20 Genomic heterogeneity of Primary and Paediatric Lymphoedema
Pia Ostergaard* and Sahar Mansour St George’s, University of London, London,

10:40 Tailoring the ACMG and AMP recommendations for the interpretation
of genetic variants in the FBN1 gene: A gene-specific guideline.
L. Muiño-Mosquera*, F. Steijns, M. Renard, J. De Backer; University of Ghent, Belgium

10:40 Discussion/ Questions & Answers

10:45 COFFEE

11:00 KEY NOTE LECTURE I
CHAIR: DR. ANN CHILD, READER/ CONSULTANT CARDIOVASCULAR GENETICS, ST. GEORGE’S, LONDON, UK

‘THE EXPANDING LANDSCAPE OF THE TGF-BETA MOLECULAR FAMILY”
PROFESSOR BART LOEYS, ANTWERP, BELGIUM

SESSION II: FUNCTIONAL VASCULAR DISEASE

CHAIR: DR. GERAINT JENKINS, CONSULTANT CARDIOLOGIST, MORRISTON HOSPITAL, SWANSEA, WALES, UK

12:00 ‘Genomic insights of essential hypertension and clinical applications’
Professor Patricia Munroe, William Harvey Research Institute, QMUL, London

12:20 ‘Molecular heterogeneity in pulmonary arterial hypertension’
Professor Robert Tulloh, Bristol Royal Infirmary, Bristol

12:40 ‘Genomic heterogeneity of vascular phenotypes of inherited connective tissue disease’
Prof. Julie de Baker, University of Ghent, Belgium

13:00 LUNCH

14:00 SESSION III: CARDIAC CONDUCTION AND RHYTHM DISORDERS

CHAIRS: DR. JOHN DEAN, CONSULTANT CLINICAL GENETICS, ABERDEEN, SCOTLAND
DR. PETER O’CALLAGHAN, UHW, CARDIFF, UK

14:00 ‘Clinical and molecular heterogeneity of the SCN5A related cardiac phenotypes’
Professor Arthur Wilde, Academic Medical Centre, Amsterdam, The Netherlands

14:30 ‘Molecular complexities of atrial fibrillation and related disorders’
Professor Pier Lambiase, UCL & St. Bart’s, London

15:00 “Cardiac conduction manifestations in rare primary myopathies- genotype: phenotype correlations’
Dr. Mark Rogers, UHW, Cardiff, Wales, UK

15:30 TEA BREAK

SESSION IV: MANAGEMENT OF INHERITED CARDIOVASCULAR DISEASE

CHAIR: Dr. CHRISTOPHER MADLER, NEWPORT, WALES, UK

15:45 ‘Genetic & Genomic selection for cardiovascular pharmacotherapy’
Dr. Richard Turner, MRC Centre for Pharmacogenomics, Liverpool, UK

16:15 ‘Peripartum cardiomyopathy- Genomic & Therapeutic perspectives’
Dr. James Ware, Imperial College of Medicine & Royal Brompton Hospital, London, UK

16:45 ‘Inactivation of KLHL24 associated with abnormal glycogen storage in heart and skeletal muscle
C. Hedberg-Oldfors (1) and Y. Jamshidi* (2)
(1) University of Gothenburg, Gothenburg, Sweden; (2) St George’s University of London, London, United Kingdom,

17:00 “Whole exome sequencing for elucidation of Pediatric cardiomyopathy patients- a Pilot study”
Selim S.S., Seidman C., El-Saiedi S.A*., Alizera H., Mehaney D., Darwish R., Ammar R., El Feel N., Abd Elsatar E; Deprtment of Pediatric Cardiology, University of Cairo, Egypt

17:15 Reflections on Day 1

17:30 CLOSE

18:30 DRINKS RECEPTION/ JAZZ QUARTET

19:30 WELSH CARDIAC CHOIR/ GALA DINNER

DAY 2: 31 October 2017

08:30 Registration/ Coffee

09:00 SESSION V: KEY NOTE LECTURE II

CHAIR: PROF. ZAHEER YOUSEF, UHW, CARDIFF, UK

“BROADENING SPECTRUM OF CARDIAC SARCOMERES FAMILY- GENOTYPE PHENOTYPE CORRELATIONS AND THERAPEUTIC OPPORTUNITIES”
PROFESSOR PERRY ELLIOTT, UCL & ST BART’S, LONDON

SESSION VI: CARDIAC AND VOLUNTARY MUSCLE DISORDERS

CHAIRS: PROFESSOR PERRY ELLIOTT, LONDON, UK
DR MARK ROGERS, UHW, CARDIFF, UK

10:00 ‘Expanding genomic horizons of dilated cardiomyopathy’
Professor Eloisa Arbustini, University of Pavia, Italy

10:30 “Molecular advances in arrhythmogenic cardiomyopathy”
Kalliopi Pilichou, Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy

11:00 ‘New genomic biomarkers and therapy for ARVC’
Professor Robert Hamilton, Hospital Sick Kids, Toronto, Canada

11:30 GUEST LECTURE
PROFESSOR SIR NILESH SAMANI,
MEDICAL DIRECTOR BHF & PROFESSOR OF CARDIOVASCULAR MEDICINE, LEICESTER, UK
INTRODUCTION- PROFESSOR DHAVENDRA KUMAR

“New opportunities and challenges for Inherited Cardiovascular Conditions”

12:30 ‘Genomic diagnosis of rare cardiovascular diseases’
Mr. Anil Bhardwaj, Centogene, Germany

12:40 Bio-Informatics input in cardiac genome diagnosis
Dr. David Una, Health-in-Code, La Coruna, Spain

12:50 LUNCH/ POSTER VIEWING

14:00 SESSION VII: DIAGNOSTIC CARDIOVASCULAR GENOMIC MEDICINE

CHAIRS: DR. RACHEL BUTLER, IMG, UHW, CARDIFF, UK

14:00 “The impact of NGS testing for inherited cardiovascular disease”
Dr. Lorenzo Monserratt, Health in Code, La Coruna, Spain

14:20 “Complexities and challenges of genome diagnostics in clinical practice’
Dr. Antoine Bondue, Erasme Hospital, Brussels, Belgium

14:40 Quantitative approaches to variant classification increase the yield, precision and equitability of genetic testing in HCM
Roddy Walsh, National Heart & Lung Institute, Imperial College London, UK

15:00 ‘Genomic bio-markers for drug induced arrhythmias’
Dr. Elijah Behr, St. George’s Hospital, Medical School, London, UK

SESSION VIII: FATAL AND NEAR MISS LIFE THREATENING OUTCOMES

CHAIRS: Prof. MARY SHEPARD, ST. GEORGE’S HOSPITAL, LONDON, UK
DR. SARJU MEHTA, ADDENBROOKE’S HOSPITAL, CAMBRIDGE, UK

15:25 ‘Recommendations for post-mortem genetic analysis for sudden cardiac death’
Florence Felmann*, Lausanne, Switzerland; on behalf of the Public and Professional Policy Committee of the European Society of Human Genetics

15:45 ‘Genomic perspectives of sudden cardiac death in Sports & Athletics’
Dr. Michael Papadakis, St. George’s, London, UK

16:05 ‘Targetting prevention of sudden cardiac death’
Dr. Andrew Grace, Addenbrooke’s Hospital, Cambridge, England, UK

16:25 REFLECTIONS ON DAY 2 & CONFERENCE

16:30 CLOSE & GOODBYE

Faculty

Prof. Dhavendra Kumar, University Hospital of Wales, Cardiff, UK (Chair- Scientific Committee)
Kumard1@cf.ac.uk ; dhavendra.kumar@southwales.ac.uk

Prof. Perry Elliott, UCL/ Bart’s, London, UK
perry.elliott@ucl.ac.uk

Prof. Sir Nilesh Samani, BHF Medical Director & Leicester University, UK
njs@leicester.ac.uk

Dr. Richard Turner, MRC Centre for Pharmacogenomics, Liverpool, UK
Richard.Turner@liverpool.ac.uk

Prof. Arthur Wilde, Academic Medical Centre, Amsterdam, NL
a.a.wilde@amc.uva.nl

Dr. Lorenzo Monserrat, Health in Code, La Coruna, Spain
lorenzo.monserrat@healthincode.com

Dr. Elijah Behr, St. George’s Hospital Medical School. London, UK
ebehr@sgul.ac.uk

Prof. Julie de Backer, Medical Genetics Centre, University of Ghent, Belgium
Julie.DeBacker@UGent.be

Dr. Michael Pappadakis, St. George’s, London, UK
mihalispapadakis@hotmail.com

Dr. James Ware, Imperial College of Medicine & Royal Brompton Hospital, London, UK
j.ware@imperial.ac.uk

Prof. Bart Loeys, Centre for Medical Genetics, Univ. Antwerp, Belgium
bart.loeys@uantwerpen.be

Dr. Antoine Bondue, Erasme Hospital, Brussels, Belgium
(Bondue Antoine Antoine.Bondue@erasme.ulb.ac.be)

Professor Robert Hamilton, Hospital Sick Kids, Toronto, Canada
robert.hamilton@sickkids.ca

Professor Eloisa Arbustini, University of Pavia, Italy
e.arbustini@smatteo.pv.it

Dr. Jean Luc Balligand , Université catholique de Louvain, Tour Vésale +5, 52 avenue Mounier, 1200 Bruxelles
jean-luc.balligand@uclouvain.be

Dr. Catherine Mercer, Princess Ann Hospital, Southampton, UK
Catherine.Mercer@uhs.nhs.uk

Prof. Robert Tulloh, Consultant Cardiologist, Bristol Royal Infirmary, UK
Robert.Tulloh@bristol.ac.uk

Prof. Patricia Munroe, William Harvey Research Centre, QMUL, UK
p.b.munroe@qmul.ac.uk

Dr. Kalliopi Pilichou/ Prof. Cristina Basso, Department of Cardiac, Thoracic and Vascular Sciences, University of Padua, Padua, Italy
cristina.basso@unipd.it

Dr. Andrew Grace, Department of Cardiology, Addenbrooke’s Hospital, Cambridge, Engalnd, UK
aag1000@cam.ac.uk

Dr Florence FELLMANN – MD, PhD – Médecin Associé
Service de Médecine Génétique, NES 06/ 6024
Avenue Pierre Decker 5, CH-1011 Lausanne
Switzerland
Florence.Fellmann@chuv.ch

Jean-Luc Balligand, MD, PhD
Head, Pole of Pharmacology and Therapeutics
President, Institut de Recherche Experimentale et
Clinique (IREC)
University of Louvain Medical School
UCL-FATH Tour Vésale 5th floor
52 Avenue Mounier B1.53.09
1200 Brussels, Belgium (E.U.)
jean-luc.balligand@uclouvain.be

Dr. Catherine Mercer, Consultant Clinical Genetics,
Princess Anne Hospital, Southampton, UK
Catherine.Mercer@uhs.nhs.uk

Dr. Judith M.A. Verhagen, Department of Clinical Genetics
DeUErasmus M.C
UnivUniversity Medical Center, Rotterdam
Th
The Netherlands
j.m.a.verhagen@erasmusmc.nl

Dr. Pia Ostergaard, St George’s Hospital Medical School, University of London, London,
posterga@sgul.ac.uk

Dr. L. Muiño-Mosquera, Department of Medical Genetics, University Hospital of Ghent, Belgium
Laura.MuinoMosquera@uzgent.be

Dr. Yalda Jamshidi, Department of Cardiovascular Medicine
St. George’s Hospital Medical School, University of London, UK
yjamshid@sgul.ac.uk

Prof. Sonia A. El-Saiedi, Deparment of Pediatric Cardiology
Cairo University Children’s Hospital, Cairo, Egypt

Mr. Anil Bhardwaj, Senior Executive, Centogene, Germany
Anil.bhardwaj@centogene.com

Dr. David de Uña, Bioinformatics Scientist, Health in Code, La Coruna, Spain
David.deuna@healthincode.com

Dr. Roddy Walsh, National Heart & Lung Institute, Imperial College London, UK
r.walsh@rbht.nhs.uk

Details

Start:
October 30
End:
October 31
Event Category:

Organizer

The Genomic Medicine Foundation (UK)
Email:
genomicmedicine@yahoo.co.uk
Website:
www.genomicmedicine.org

Venue

Radisson Blu Convention Center
Meridian Gate Bute Terrace
Cardiff, Wales CF10 2FL United Kingdom
+ Google Map
Phone:
02920454777