Sunday, May 28

Symposium S02 One gene, many phenotypes

Chair: Enza Maria Valente, Elsebet Ostergaard

S02.1 Filaminopathies

Stephen Robertson;
Dunedin, New Zealand

S02.2 Laminopathies

Nicolas Levy;
Marseille, France

S02.3 Disruption of Na⁺ binding in alpha-3 Na⁺,K⁺-ATPaseby neurological disease mutations and rescue by second-site mutation

Bente Vilsen, R. Holm, C.P. Rønn, M.S. Toustrup-Jensen, A.P. Einholm, V.R. Schack;
Aarhus, Denmark

Symposium S03 Novel Treatment Options

Chair: Yanick J. Crow, Asbjorg Stray-Pedersen

S03.1 Emerging targeted drug therapies in skeletal dysplasias

Ravi Savarirayan;
Melbourne, Australia

S03.2 Gene therapy of myotubular myopathy

Anna Buj-Bello;
Genethon, France

S03.3 Pronuclear transfer to prevent mitochondrial DNA disease (Mito therapy)

Mary Herbert;
Newcastle, United Kingdom

Symposium S04 From Association to Causality in complex diseases

Chair: Samuli Ripatti, Anders Børglum

Cancelled – S04.1 Genetic architecture of coronary artery disease, a common and complex disorder

Sekar Kathiresan;
Boston, United States

S04.2 Efficient fine-mapping of genome-wide association study results

Matti Pirinen;
Helsinki, Finland

S04.3 Integration of eqtl and gwas to find susceptibility genes for complex traits

Bogdan Pasaniuc;
Los Angeles, United States

Educational Session E06 Bioethics for ‘dummies’

Chair: Francesca Forzano

E06.1 Gene editing, NIPT

Martina Cornel;
Amsterdam, Netherlands

E06.2 Balancing public health & biomedical ethics: The case of newborn screening

Yvonne Bombard;
Toronto, Canada

Educational Session E07 Pharmacogenomics in the clinic

Chair: William G. Newman

E07.1 Pharmacogenomics Knowledge for Personalized Medicine

Marylyn D. Ritchie;
Danville, United States

E07.2 Implementation of pharmacogenomics in the clinic

Munir Pirmohamed;
Liverpool, United Kingdom

Concurrent Session C08 Neuromuscular Disorders

Chair: Marta Bertoli, Sabine Grønborg

C08.1 Biallelic mutations in the myopalladin gene, MYPN are associated with childhood-onset, slowly progressive nemaline myopathy

Naomichi Matsumoto, S. Miyatake;
Yokohama, Japan

C08.2 Neurocalcin delta as a novel protective modifier for spinal muscular atrophy: A full story from gene identification to therapy

Svenja Schneider*, M. Riessland, A. Kaczmarek, K.J. Swoboda, H. Loehr, C. Bradler, V. Grysko, M. Dimitriadi, S. Hosseinibarkooie, L. Torres-Benito, M. Peters, A. Upadhyay, N. Biglari, S. Kroeber, I. Hoelker, L. Garbes, C. Gilissen, A. Hoischen, G. Nuernberg, P. Nuernberg, M. Walter, F. Rigo, C.F. Bennett, M.J. Kye, A.C. Hart, M. Hammerschmidt, P. Kloppenburg, B. Wirth;
Cologne, Germany

C08.3 Dissecting the causal mechanism of X-linked dystonia-parkinsonism by integrating genome and transcriptome assembly

Tatsiana Aneichyk*, W.T. Hendricks, R. Yadav, D. Shin, D. Gao, C.A. Vaine, R.L. Collins, B. Currall, M.E. Dy, J. Dhakal, N. Ito, N. Sharma, X.O. Breakefield, L.J. Ozelius, C.D. Bragg, M. Talkowski;
Boston, United States

C08.4 Application of exome sequencing technologies to 1,000 patients affected by limb-girdle weakness of unknown origin

Katherine Johnson*, A. Töpf, M. Bertoli, L. Phillips, A. Blain, M. Ensini, M. Lek, L. Xu, T. Mullen, E. Valkanas, D.G. MacArthur, V. Straub;
Newcastle upon Tyne, United Kingdom

C08.5 Autosomal recessive myopathy associated with cataracts caused by mutations in the gene INPP5K, in inositol phosphatase

Andreas Roos, M. Wiessner, D. Cox, R. Barresi, D. Hathazi, L. Swan, H. Lochmüller, J. Senderek;
Newcastle Upon Tyne, United Kingdom

C08.6 Homozygous variants in LMOD1 and MYLK cause Megacystis Microcolon Intestinal Hypoperistalsis Syndrome by disruption of smooth muscle contractility

Maria M. Alves, D. Halim, E. Brosens, M.P. Wilson, J.B.J.M. Verheij, F. Muller, M.F. Wangler, A. Beaudet, M. Doukas, H.J. Stoop, B. de Graaf, R.W.W. Brouwer, W.F.J. van Ijcken, Y. Han, V. Nanda, O.J. Slivano, C.K. Christie, K.L. de Mesy Bentley, S. Xu, G. Jin, D. Oliver, T. Djuwantono, W. Yan, R. Kapur, A.J. Burns, D. Tibboel, J.M. Miano, R.M.W. Hofstra;
Rotterdam, Netherlands

Concurrent Session C09 Molecular Mechanisms of Disease

Chair: Olaug Rødningen, Niels Tommerup

C09.1 X chromosome inactivation in human single cells

Federico A. Santoni, C. Borel, M. Garieri, M. Garieri, G. Stamoulis, S.E. Antonarakis;
Geneva, Switzerland

C09.2 Morbidity risk of chromosomal breakpoints in topological domains enriched in non-exonic conserved elements

Mads Bak, A. Fonseca, M. Mehrjouy, M. Rasmussen, C. Halgren, I. Bache, P. Kroisel, S. Midyan, J. Vermeesch, A. Vienna-Morgante, K. Abe, D. Moretti-Ferreira, L. Angelova, E. Rajcan-Separovic, C. Sismani, C. Aristidou, Z. Sedlacek, C. Fagerberg, K. Brøndum-Nielsen, I. Vogel, A. Bojesen, K. Õunap, L. Roht , J. Lespinasse, C. Beneteau, V. Kalscheuer, N. Ehmke, C. Daumer-Haas, E. Stefanou, M. Czako, F. Sheth, C. Bonaglia, A. Novelli, M. Fannemel, J. Engelen, A. Travessa, N. Kokalj-Vokac, M. Ramos-Arroyo, L.R. Martínez, M. Guitart, A. Schinzel, F. Silan, C. de Almeida, Y. Akkari, J. Batanian, H. Kim, P. Jacky, N. Tommerup, International Breakpoint Mapping Consortium;
Copenhagen, Denmark

C09.3 Whole genome characterization of array defined clustered CNVs reveals two distinct complex rearrangement subclasses generated through either non-homologous repair or template switching

Lusine Nazaryan-Petersen*, J. Eisfeldt, J. Lundin, M. Pettersson, D. Nilsson, J. Wincent, A. Lieden, F. Vezzi, V. Wirta, M. Käller, T. Duelund, R. Houssari, L. Pignata, M. Bak, N. Tommerup, E.S. Lundberg, Z. Tümer, A. Lindstrand;
Copenhagen, Denmark

C09.4 Biallelic mutations of Prune-1 are causing PEHO-like syndrome with microcephaly and neurodevelopmental impairment.

Veronica Ferrucci, V. Salpietro, F. Asadzadeh, F. Pennino, M. Ahmed, I. Scognamiglio, L. Musella, A. Di Somma, F. Cozzolino, A. Duilio, P. Pucci, E. Karaca, A.H. Crosby, E.L. Beaple, H. Houlden, J.R. Lupsky, M. Zollo;
Milan, Italy

C09.5 A human developmental syndrome caused by germline mutation to a histone H4 gene highlights the importance of H4K91 in DNA damage response and cell cycle control

Federico Tessadori, J. Giltay, J. Hurst, M. Massink, K. Duran, K. van Gassen, R. Scott, J. Bakkers, G. van Haaften;
Utrecht, Netherlands

C09.6 The ciliopathy protein Talpid3/KIAA0586 plays a role upstream of Rab8 activation in outer segment formation and maintenance in zebrafish retinal photoreceptors

I. Ojeda Naharros, F. Cristian, J. Zang, M. Gesemann, S.C.F. Neuhauss, Ruxandra Bachmann-Gagescu;
Zürich, Switzerland

Concurrent Session C10 GWAS: Resolving Missing Causality

Chair: Philippos C. Patsalis, Anne Tybjaerg-Hansen

C10.1 Systems Genetics and Transcriptome analysis on Circulating Proteins

D.V. Zhernakova, U. Vosa, A. Claringbould, M.J. Bonder, A. Kurilshikov, S. Sanna, B. Atanasovska, R.A. Boer, F. Kuipers, L. Franke, C. Wijmenga, A. Zhernakova, Jingyuan Fu;
Groningen, Netherlands

C10.2 The deCODE replication server, a resource for the replication of published genotype-phenotype associations

Asmundur Oddsson*, P. Sulem, G. Thorisson, S.A. Gudjonsson, S. Benonisdottir, G. Arnadottir, B.O. Jensson, R.P. Kristjansson, G. Sulem, U. Thorsteinsdottir, G. Masson, D.F. Gudbjartsson, K. Stefansson;
Reykjavik, Iceland

C10.3 Assessing the causal role of body mass index on cardiovascular health in young adults: a Mendelian randomization and recall-by-genotype analysis

Kaitlin H. Wade*, S.T. Chiesa, A.D. Hughes, N. Chaturvedi, M. Charakida, A. Rapala, V. Muthurangu, T. Khan, A. Fraser, D. Lawlor, G. Davey Smith, J.E. Deanfield, N.J. Timpson;
Bristol, United Kingdom

C10.4 Fine-mapping analysis of 158 breast cancer risk loci from OncoArray data

Laura Fachal*, J. Allen, M. Ghoussaini, J. Beesley, J.S. Carroll, G. Chenevix-Trench, J. Simard, P. Kraft, D.F. Easton, A. Dunning;
Cambridge, United Kingdom

C10.5 Prospects of fine-mapping causal genetic variants using summary statistics from genome-wide association studies

Christian Benner*, A. Havulinna, M. Järvelin, V. Salomaa, S. Ripatti, M. Pirinen;
Helsinki, Finland

C10.6 Genome-Wide Inferred Statistics (GWIS) for Homeostatic Model Assessment of β-cell function and Insulin Resistance

Iryna O. Fedko, M.G. Nivard, J.J. Hottenga, Cross Consortia Pleiotropy (XC-Pleiotropy) Group, Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) Investigators, R. Mägi, I. Prokopenko, D.I. Boomsma;
Amsterdam, Netherlands

Concurrent Session C11 Sensory disorders

Chair: Trine E. Prescott, Dragana Vuckovic

C11.1 FDXR mutations cause sensorial neuropathies, a new mitochondrial Fe-S disease.

Antoine Paul*, A. Drecourt, D. Dupin Deguine, C. Vasnier, M. Oufadem, F. Petit, C. Masson, C. Bonnet, S. Masmoudi, I. Mosnier, L. Mahieu, D. Bouccara, J. Kaplan, G. Challe, C. Domange, F. Mochel, O. Sterkers, S. Gerber, P. Nitschke, C. Bole-Feysot, L. Jonard, G. Souad, I. Ben Aissa, S. Lyonnet, A. Rotig, A. Delahodde, S. Marlin;
Paris, France

C11.2 A homozygous variant in mitochondrial RNase P subunit PRORP is associated with Perrault Syndrome characterised by hearing loss and primary ovarian insufficiency

Leigh A.M. Demain*, I. Hochberg, J.E. Urquhart, A. Amberger, A.J. Deutschmann, K. Thompson, J. O’Sullivan, I.A. Belyantseva, M. Barzik, S.G. Williams, S.S. Bhaskar, E.M. Jenkinson, N. AlSheqaih, Z. Blumenfeld, S. Yalonetsky, S. Oerum, W. Rossmanith, W.W. Yue, J. Zschocke, R.W. Taylor, T.B. Friedman, K.J. Munro, R.T. O’ Keefe, W.G. Newman;
Manchester, United Kingdom

C11.3 Rare genetic variants in MEPE cause congenital facial paresis with stapes fixation, and are associated with otosclerosis

Hanne Valgaeren*, I. Schrauwen, L. Tomas-Roca, U. Altunoglu, M. Wesdorp, M. Sommen, M. Rahmouni, E. van Beusekom, M.J. Huentelman, E. Offeciers, I. dHooghe, R. Vincent, A. Huber, P. Van de Heyning, D. Zanetti, E.M.R. De Leenheer, C. Gilissen, C.W. Cremers, B. Verbist, A.P.M. de Brouwer, G.W. Padberg, H. Kremer, G. Van Camp, H. van Bokhoven;
Edegem, Belgium

C11.4 Naturally-occuring exon-skipping allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

Iris Barny*, I. Perrault, S. Thomas, T. Attié-Bitach, C. Hamel, H. Dollfus, J. Kaplan, J. Rozet, X. Gérard;
Paris, France

C11.5 Hidden genetic variation in Stargardt disease: novel copy number variations, cis-regulatory and deep-intronic splice variants of the ABCA4 locus

Miriam Bauwens*, R. Sangermano, T. Cherry, C. Van Cauwenbergh, J. Gómez-Skarmeta, N. Weisschuh, S. Kohl, B. Leroy, F. Cremers, E. De Baere;
Ghent, Belgium

C11.6 New diagnostic biomarkers for peroxisomal biogenesis disorders revealed by untargeted metabolomics profiling include significant reduction of sphingomyelin, bile acid alterations, and unique long chain fatty acid elevations

Sarah H. Elsea, L. Hubert, T. Donti, M. Ventura, M. Miller, N. Braverman, M. Bose, W. RIzzo, R. Jones, A. Moser, Q. Sun, A. Kennedy, M. Wangler;
Houston, United States

Concurrent Session C12 Engaging Patients in Genomics

Chair: Helena Kaariainen, Birgitte R. Diness

C12.1 SEQUAPRE: Preferences and representations from patients and parents with regard to the use of Next-Generation Sequencing technologies in medical genetics. The case of development anomalies.

A. Chassagne, A. Pélissier, C. Peyron, F. Houdayer, D. Salvi, S. Kidri, A. Charpin, A. Godard, O. Putois, C. Thauvin-Robinet, A. Masurel, N. Jean, D. Lehalle, J. Thevenon, L. Joly, E. Gautier, P. Ancet, A. Lapointe, P. Morin, P. Edery, M. Rossi, D. Sanlaville, S. Bejean, E. Cretin, Laurence Faivre;
Besançon, France

C12.2 Children with a rare chromosome disorder. How have UK families’ experiences of diagnosis and counselling changed over the ten year period 2003 – 2013?

Ala Szczepura, S. Wynn, B. Searle, A.J. Khan, T. Palmer, D. Biggerstaff, J. Elliott, M. Hultén;
Coventry, United Kingdom

C12.3 BRCA1/BRCA2 population screening in Ashkenazi Jews: Long term impact.

Sari Lieberman, A. Tomer, A. Ben Chetrit, O. Olsha, R. Beeri, A. Raz, A. Lahad, E. Levy-Lahad;
Jerusalem, Israel

C12.4 The European Gen-Equip project to create accessible resources for genetics education in primary care: an account of the process, the challenges and the successes.

Leigh Jackson*, M. Cornel, M. Paneque, V. Stefansdottir, D. Turchetti, V. Curtisova, P.W. Lunt, M. Campos, A. Kent, M. Macek Jnr, E. Houwink, A. O’Connor, H. Skirton;
Exeter, United Kingdom

C12.5 UK investigation of the experiences and information preferences of patients with an increased risk of bowel cancer; Family Web Study survey results informing website content.

Selina M.A. Goodman, H. Skirton, R. Jones;
Plymouth, United Kingdom

C12.6 Genomics Education at Scale

Michelle Bishop, E. Miller, A. McPherson, A. Pope, A. Seller;
Birmingham, United Kingdom

Workshop W06 Dysmorphology 1

Organisers: Dian Donnai, Jill Clayton Smith, Sophia Douzgou

15:00 Welcome and short history of syndrome workshops

Dian Donnai

15:10 The Changing Face of Syndrome Diagnosis

Jill Clayton-Smith

15:30 What is the future of a Dysmorphology Clinic: open discussion

Sofia Douzgou & Joris Veltman

15:45 till end

Case presentations
Our workshop of the following day will run, as usually, without a set agenda but based on case presentations brought by the participants.
For both workshops, the participants are invited to upload their presentations during the break BEFORE the workshop

Workshop W07 Prenatal Diagnosis

Organisers: Erik Iwarsson & Ida Vogel

The rapid progress of techniques for genetic analysis provides us with new possibilities in the field of prenatal diagnosis. The field is technology driven and there is a need for synthesis and sharing of best practice. The speakers will share their work and experience on some hot topics in prenatal diagnosis followed by panel and floor discussion.

Prenatal diagnosis of fetal structural abnormalities in the PAGE project: results and reflections on exome sequencing in 400 trios

Jenny Lord;
The Wellcome Trust Sanger Institute, Wellcome Genome Campus

Genomic Approaches to Prenatal Diagnostics

Michael E. Talkowski;
Departments of Neurology, Psychiatry, and Pathology, Center for Genomic Medicine, Massachusetts General Hospital and Harvard Medical School

Microarray as standard analysis for a pregnant population at increased risk for aneuploidy. Results and their implication on a change to NIPT as standard analysis.

Ida Vogel;
Department of Clinical Genetics and Center for prenatal diagnosis, Aarhus University Hospital

Non-invasive prenatal diagnosis for single-gene disorders

Natalie Chandler;
NE Thames Regional Genetics Laboratory, Great Ormond Street Hospital for Children NHS Foundation Trust

Panel and floor discussion

Workshop W08 Pharmacogenomics

Organiser: William Newman

Contributors:
Teri Klein, Stanford University, USA
Marylyn Ritchie, Penn State University, USA

The pharmacogenomics workshop will consider some of the advances in pharmacogenomics that are moving this discipline more into the mainstream. The opportunities afforded by pre-emptive testing, point of care testing and linked electronic health care records. The workshop will be interactive with opportunities for participants to share their own experiences of delivering clinical pharmacogenomics; the barriers encountered and opportunities to overcome these.

Workshop W09 Including diverse populations in genomics

Organisers: Martina Cornel & Vence L. Bonham

Opening comments: Genetics in an isolated population like Finland: a different basis for genomic medicine?

Helena Kääriäinen

Diversity and Inclusion in Genomic Research: Why the uneven progress?

Charles Rotimi

Increasing the involvement of diverse populations in genomics-based health care – Lessons from Haemoglobinopathies

Helen Merrideth Robinson

Panel discussion

Workshop W10 Gene regulation

Organiser: Alexandre Reymond

15.00 The genetics of transcription factor DNA binding variation

Bart Deplancke, Ecole Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland

15.30 Unveiling the regulatory landscapes of genes involved in pancreatic cancer using a zebrafish model

Renata Carriço, I3S, Instituto de Investigação e Inovação, Universidade do Porto, Porto, Portugal

15.45 Functional dissection of the enhancer network in human embryonic stem cells by ChIP-STARR-seq

Stefan Barakat, Erasmus MC-University Medical Center, Rotterdam, The Netherlands

16.00 Effects of genetic variation on promoter usage (pmQTL) and enhancer activity (enQTL)

Alexandre Fort, Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland

16.15 Tissue-specific expression and co-expression analyses of gene families in human brain regions to prioritize genes potentially implicated into brain diseases

Solène Brohard-Julien, Centre National de Génotypage, Institut de Génomique, CEA, Evry, France

Workshop W11 Career development and funding opportunities for young investigators

Organiser: Lude Franke

In this workshop several scientists tell their story on what they experienced when developing their career in science. What were the opportunities that enabled them to develop their career in genetics? What where the problems that they observed and what solutions did they find? This session is particularly intended for young researchers, who wonder what kind of opportunities exist to pursue new directions.

Speakers include: Sasha Zhernakova, Bogdan Pasaniuc, Joris Vermeesch and Lude Franke.

Symposium S06 Treatment-Focused Genetic Testing in Cancer

Chair: Conxi Lazaro, Anne-Marie Gerdes

S06.1 Circulating tumor DNA in cancer monitoring

Ellen Heitzer;
Graz, Austria

Cancelled
S06.2 Next-generation sequencing: a change of paradigm in molecular diagnostics of cancer

David González de Castro;
Belfast, United Kingdom

S06.3 Precision cancer medicine: translating laboratory studies into improvements in patient care

Gabriel Capella;
Barcelona, Spain

Symposium S07 Still the golden age of chromosomes

Chair: Erik Iwarsson, Karen Brøndum Nielsen

S07.1 The molecular pathogenesis of trisomy 21

Stylianos E. Antonarakis;
Geneva, Switzerland

S07.2 Mosaic loss of chromosome Y (LOY) – not that normal benign phenomenon after all

Lars Forsberg;
Uppsala, Sweden

S07.3 Introducing the emerging era of “Cytogenomics”

Michael Talkowski;
Boston, United States

Symposium S08 New technologies in Neurogenetics

Chair: Yanick J. Crow, Zeynep Tümer

S08.1 3D analysis of commissural systems with light sheet microscopy

Alain Chédotal;
Paris, France

S08.2 Brain imaging genetics in neurodevelopmental disorders

Barbara Franke;
Nijmegen, Netherlands

S08.3 Optogenetics

Speaker to be announced;
London, United Kingdom

Educational Session E08 Multi-omics data integration

Chair: Lude Franke

E08.1 Functional Genomics

Phillip Beales;
London, United Kingdom

E08.2 Methods of integrating genomics data

Marylyn Ritchie;
Danville, United States

Educational Session E09 Phakomatosis Update

Chair: Hélène J. Dollfus

E09.1 Neurofibromatosis Update

D.R.Gareth Evans;
Manchester, United Kingdom

E09.2 Tuberous Sclerosis  Complex Update

Sergiusz Jozwiak;
Warsaw, Poland