08:30 – 10:10 hrs | Concurrent Symposia S01-S04 & Educational Sessions E06-E07
Symposium S01 Single cell studies: From technology to biology
Chair: Thierry Voet, Henna Tyynismaa
S01.1 Stem cell identification and characterisation in adipose tissue using single-cell RNA-seq based approaches
Bart Deplancke;
Lausanne, Switzerland
S01.2 Towards single-cell proteomics: Unraveling cell populations in health and disease by single-cell mass cytometry
Stephane Chevrier;
Zurich, Switzerland
S01.3 Single cell RNA-seq unveils the molecular diversity of midbrain development in human, mouse and stem cells
Gioele La Manno;
Stockholm, Sweden
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
10:00 – 10:15 hrs | Coffee Break, Exhibition, Poster Viewing
10:15 – 11:15 hrs | Poster Viewing with Authors – Group A
11:15 – 12:45 hrs | Lunch Break, Exhibition, Poster Viewing
13:00 – 14:30 hrs | Concurrent Sessions C07 – C12
Concurrent Session C07 Novel genomics technologies
Chair: Johan den Dunnen, Michael Parks
C07.1 Mosaic mutation detection using single molecule molecular inversion probes (smMIPs) for autoinflammatory disorders
E.C. Carbo, M.J. Koudijs, S.M.C. Savelberg, F. Mulder, J. Frenkel, M.A. Swertz, H. PloosvanAmstel, Marielle E. van Gijn;
Utrecht, Netherlands
C07.2 Ultra-sensitive detection of mosaic mutations in blood DNA of healthy individuals provides new insights into age-related clonal hematopoiesis
Rocio Acuna Hidalgo, H. Sengül, M. Steehouwer, M. van der Vorst, J.A. Veltman, C. Gilissen, A. Hoischen;
Nijmegen, Netherlands
C07.3 Quantifying the role of paralogous genes in tissue selective hereditary diseases
R. Barshir, N. Shemesh, I. Hekselman, O. Basha, M. Sharon, L. Alfandri, L. Novack, Esti Yeger-Lotem;
Beer-Sheva, Israel
C07.4 Mapping and phasing of structural variation in patient genomes using nanopore sequencing
M. Cretu-Stancu, M. van Roosmalen, I. Renkens, M. Nieboer, S. Middelkamp, J. de Ligt, G. Pregno, D. Giachino, G. Mandrile, J. Espejo Valle-Inclan, J. Korzelius, E. de Bruijn, E. Cuppen, M. Talkowski, T. Marschall, J. de Ridder, Wigard Kloosterman;
Utrecht, Netherlands
C07.5 Enrichment of unamplified DNA and long-read SMRT Sequencing to unlock repeat expansion disorders
Christoph J. Koenig, Y. Tsai, D. Greenberg, T.A. Clark;
Menlo Park, United States
C07.6 CLIP-Cap: Combined Long-Insert Paired-End and Capture sequencing, a novel method for the analysis of complex genomic aberrations
Carolin Purmann, X. Zhu, D. Palejev, J. Bernstein, J.F. Hallmayer, A. E. Urban;
Palo Alto, United States
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
14:30 – 15:00 hrs | Fruit Break, Exhibition, Poster Viewing
15:00 – 16:30 hrs | Workshops W05 – W11
Workshop W05 Defining “mutation” or “polymorphism” using prediction tools
Organisers: Malte Spielmann, Martin Kircher, Dominik Seelow
15.00 Welcome and opening remarks
Malte Spielmann
15.03 Variants and polymorphisms in the context of disease
Martin Kircher, Dominik Seelow
15.15 Annotation of variants
Martin Kircher, Dominik Seelow
15.30 Considerations for variant filtering
Martin Kircher, Dominik Seelow
15:45 Break
15.50 Assessment of variants
Martin Kircher, Dominik Seelow
16.10 Challenges of interpreting non-coding variants
Martin Kircher, Dominik Seelow
16.20 Questions and participant feedback
Malte Spielmann, Martin Kircher, Dominik Seelow
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.
16:30 – 16:45 hrs | Coffee Break, Exhibition, Poster Viewing
16:45 – 17:45 hrs | Poster Viewing with Authors – Group B
17:45 – 19:15 hrs | Concurrent Symposia S05-S08 & Educational Sessions E07-E08
Symposium S05 3D genome architecture: non-coding variants and human disease
Chair: Malte Spielmann, Uffe Birk Jensen
S05.1 A 3D Code in the Human Genome
Erez Lieberman Aiden;
Houston, United States
S05.2 Long Range regulation of mammalian gene expression
Doug Higgs;
Oxford, United Kingdom
S05.3 Structural variants cause 3D confirmational changes
Stefan Mundlos;
Berlin, Germany
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