Please find below the changes in the programme which occurred after the printing deadline.
09:00 – 10:30 hrs – E15 | Disorders of sexual development
NEW TITLE: E15.2 Reproductive and adrenal development: Insights from nuclear receptor gene mutations
John C. Achermann;
London, United Kingdom
09:00 – 10:30 hrs – E16 | Genetics with a Bite
NEW TITLE: E16.2 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Agnes Bloch-Zupan;
Strasbourg, France
11:00 – 12:30 hrs – C19 | Advanced Sequencing Technologies
Chair: Johan den Dunnen, tbd
11:00 – 12:30 hrs | Best Poster Session 2
PRESENTATION CANCELLED: P12.120D Interrogation of non-coding transcriptome in high-risk susceptibility to familiar cancer
Tomas Kirchhoff, R. Ferguson, D. Simpson, E. Kazlow, R. Monahan, J. Chun Kim, F. Schnabel, O. Ginsburg, D. Polsky;
New York, United States
Please find below the changes in the programme which occurred after the printing deadline.
10:30 – 12:00 hrs – E02 | Hereditary cancer
CHANGE OF CHAIRPERSON: Gunnar Houge
18:30 – 20:45 hrs – Plenary Session PL2 “What’s New?” – Highlight Session
PL2.5 Local and global chromatin interactions are altered by large genomic deletions associated with human brain development
CHANGE OF PRESENTER: X. Zhang, Y. Zhang, Bo Zhou, C. Purmann, M.S. Haney, T.R. Ward, J. Yao, S.M. Weissman, A.E. Urban;
Palo Alto, United States
Additional Late Breaking Presentations:
Late Breaking Presentations (10 ‘ each)
LB1 NAXDmutations cause a novel neurodegenerative disorder exacerbated by febrile illnesses
N. J. Van Bergen, Y. Guo, J. Rankin, N. Paczia, J. Becker-Kettern, L. S. Kremer, A. Pyle, J. Conrotte, C. J. Ellaway, P. Procopis, K. Prelog, T. Homfray, J. Baptista, E. Baple, M. Wakeling, S. Massey, D. P. Kay, A. Shukla, K. M. Girisha, L. E. S. Lewis, S. D. Santra, R. Power, P. Daubeney, J. Montoya, E. Ruiz-Pesini, R. Kovacs-Nagy, M. Pritsch, U. Ahting, D. R. Thorburn, H. Prokisch, R. Taylor, J. Christodoulou, C. Linster, S. Ellard, H. Hakonarson;
Melbourne, Australia
LB2 GTF2I regulates social behavior by promoting neuronal maturation: implications for Williams-Beuren and 7q11.23 microduplication syndromes
A. Lopez Tobon, R. Shyti, E. Villa, N. Caporale, S. Trattaro, C. Cheroni, F. Troglio, B. Marcó de la Cruz, M. Gabriele, N. Malerba, F. Kooy, G. Merla, G. Testa;
Milan, Italy
LB3 Biallelic mutations of the dihydroceramide desaturase DEGS1 gene cause a novel hypomyelinating leukodystrophy with a therapeutic hope
A. Pujol, D. Pant, A. Schluter, N. Launay, S. Aguilera, M. Willis, L. Colleaux, I. Dorboz, M. Patterson, J. Gleeson, O. Boespflug-Tanguy, A. Fatemi, J. Terriente, C. Pujades;
Barcelona, Spain
20:30 –22:00 hrs – Networking Mixer
08:30 – 10:00 hrs – S03 | Genome Organization and Function
NEW TITLE: S03.2 The Dynamics of 3D Chromatin Structures Influence Transcription and Morphogenesis
Guillaume Andrey;
Correct Affilitation: Berlin, Germany
13:00 – 14:30 hrs – ES1 | Communication of genetic information with and within families
CHANGE OF SPEAKER: Marion McAllister will replace Alison Metcalfe
13:00 – 14:30 hrs – C07 | NGS diagnostics
CHANGE OF CHARPERSONS: Julie McGaughran, Maria Iascone
13:30 – 15:30 hrs – Business Meetings
CORRECTION OF MEETING TITLE: GenQA participants meeting (instead of SEQUAS participants meeting)
16:30-18:00 – New Business Meeting: Clinical Genetics Editorial Board Meeting
Room: Suite 2
17:45 – 19:15 hrs – S05 | Large-scale genetic studies in complex diseases
CHANGE OF SPEAKER SEQUENCE:
S05.2 Large-scale sequencing studies in coronary artery disease
Heribert Schunkert;
Munich, Germany
S05.1 Genetic discovery and translation in Inflammatory Bowel Disease
Mark Daly;
Boston, MA, United States
S05.3 Harnessing large-scale genetics and genomics to derive biological insights in type 2 diabetes
Mark McCarthy;
Oxford, United Kingdom
17:45 – 19:15 hrs – S07 | Drug repurposing for treating genetic disorders
NEW SPEAKER: S07.3 Treating spinocerebellar ataxias with antibiotics
Girogio Casari;
Naples, Italy
17:45 – 19:15 hrs – S08 | Microbiome and Virome
NEW TITLE: S08.3 Metagenomics for detection of pathogens in clinical practice
Judith Breuer;
London, United Kingdom
08:30 – 10:00 hrs – S11 | Epigenetics of the brain
CHANGE OF SPEAKER: S11.2 Epigenetic therapies for neurodegenerative and neuropsychiatric diseases
Cemil Kerimoglu;
Goettingen, Germany
13:15-16:15 – New Business Meeting: Discussion: Ongoing joint collaboration on Epilepsy
Room: Suite 2
15:00-16:30 hrs – W16 | Quality assurance in NGS – from data generation to data sharing
ADDITIONAL SPEAKER (final slot):
Peter Goodhand: “Global Knowledge: Local Health”
(Peter Goodhand, President of the Ontario Institute for Cancer Research, CEO of the Global Alliance for Genomics and Health – GA4GH)
15:00-16:30 hrs – New Business Meeting: Meeting concerning research projects
Room Suite 3
17:45 – 19:15 hrs – S15 | Understanding non-coding variants
S15.1 Compensatory changes genome-wide
Shamil Sunyaev;
Cambridge, MA, United States
S15.2 Non-coding repeat insertion in human disease
Isabel Silveira;
Porto, Portugal
S15.3 Deep learning approaches to denoise, impute, integrate and decode functional genomic data
Speaker to be announced;
17:45 – 19:15 hrs – S16 | Human epigenome dynamics
CHANGE OF SPEAKER: S16.1 Establishing the epigenome during human development: New insights of chromatin states and regulatory networks in pluripotent stem cells
Peter Rugg-Gunn;
Cambridge, United Kingdom
NEW TITLE: S16.2 Epigenetics, aging and age-related disorders
Mario Fraga;
Oviedo, Spain
NEW TITLE: S16.3 Epigenetic and epitranscriptomic regulation of meiosis and the preimplantation embryo
Arne Klungland;
Oslo, Norway
13:00 – 14:30 hrs – C15 | Syndrome Updates 2
C15.4 Thrombocytopenia Microcephaly Syndrome – a novel phenotype associated with ACTB mutations
CHANGE OF PRESENTER: S.L. Latham, N. Ehmke, P.Y.A. Reinke, M.H. Taft, M.J. Lyons, M.J. Friez, J.A. Lee, R. Hecker, M.C. Frühwald, K. Becker, T.M. Neuhann, E. Schrock, K. Sarnow, K. Grützmann, L. Gawehn, B. Klink, Andreas Rump, C. Chaponnier, R. Knöfler, D. Manstein, Nataliya Di Donato;
Dresden, Germany
13:00 – 14:30 hrs – C18 | Cardiovascular Disorders
Chair: Valeria Novelli, William Newman
09:00 – 10:30 hrs – E15 | Disorders of sexual development
NEW TITLE: E15.2 Reproductive and adrenal development: Insights from nuclear receptor gene mutations
John C. Achermann;
London, United Kingdom
09:00 – 10:30 hrs – E16 | Genetics with a Bite
NEW TITLE: E16.2 A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement
Agnes Bloch-Zupan;
Strasbourg, France
11:00 – 12:30 hrs – C19 | Advanced Sequencing Technologies
Chair: Johan den Dunnen, tbd
11:00 – 12:30 hrs | Best Poster Session 2
PRESENTATION CANCELLED: P12.120D Interrogation of non-coding transcriptome in high-risk susceptibility to familiar cancer
Tomas Kirchhoff, R. Ferguson, D. Simpson, E. Kazlow, R. Monahan, J. Chun Kim, F. Schnabel, O. Ginsburg, D. Polsky;
New York, United States