Sunday, June 7

Chairs:   Yasemin Alanay
Room:    Hall A6+A7

S01.1 Prenatal Genomic Approach to Genetic Diseases of Bone

Deborah Krakow;
United States

S01.2 Pandora’s Pregnancy – A new Era for Prenatal Genetic Testing

Yeal Hashiloni‐Dolev;
Israel

S01.3 Prenatal Exome and Genome Sequencing: The PAGE Study and Future Perspectives

Mark Kilby;
United Kingdom

Chairs:   Bernd Wollnik
Room:    A8

Session details to be announced.

Chairs:   Michael Speicher
Room:    A3

S03.1 Methylation Patterns of Plasma DNA in Health and Disease

Yuval Dor;
Israel

S03.2 Fragmentation of Plasma Cell-Free DNA for Early Detection of Cancer

Victor E. Velculescu;
United States

S03.3 Circulating Tumor Cells and Minimal Residual Disease, Latest Advances

Catherine Alix-Panabières;
France

Chairs:   Matti Pirinen
Room:    A1

S04.1 Why We Should Study African Genomic Variation

Ambroise Wonkam;
South Africa

S04.2 Genomes of Archaic Humans and their Contribution to Modern Humans

Janet Kelso;
Germany

S04.3 Inferring Ancestry of Everyone

Jerome Kelleher
United Kingdom

Chairs:   Celine Lewis
Room:    A5

S05.1 The Patient’s Role in New Disease Gene Discovery

Christian Schaaf;
Germany

S05.2 Experiences with Return of Results in the Estonian Biobank

Annely Allik;
Estonia

S05.3 My DNA, whose business is it anyway? A Citizen Forum on the Societal Impact of Genomics

Wannes Van Hoof;
Belgium

Chair:   Martin Kircher
Room:  A2

E05.1 Functional Characterization and Therapeutic Targeting of Gene Regulatory Elements

Nadav Ahituv;
United States

E05.2 Dissecting and Understanding Non-Coding Sequences

Alexander Stark;
Austria

Chair:   Enza Maria Valente
Room:  A4

E06.1 Microcephaly

Grazia M.S. Mancini;
The Netherlands

E06.2 Macrocephaly

Ghayda Mirzaa;
United States

Chairs:   tba
Room:    A6+A7

C08.1 Project Baby Bear: The first state-funded quality improvement project of rapid Whole Genome Sequencing in neonatal and pediatric intensive care units in the USA

Katarzyna A. Ellsworth, S. Caylor, W. Benson, C. Ashburner, J. Carmichael, E. Cham, S. Chowdhury, J. Cleary, A. D’Harlingue, L. Farnaes, J. Hunt, C. Hobbs, K. Houtchens, P. Joe, J. Knight, A. Kochhar, M. Joseph, J. Limon, M. Martin, S. Nahas, K.A. Rauen, A. Schwarz, S.P. Shankar, R. Spicer, M. Rojas, O. Vargas-Shiraishi, K. Wigby, N. Zadeh, S. Kingsmore, D. Dimmock;
San Diego, United States

C08.2 Integration of genome sequencing into health care – experiences from 3211 rare disease patients show high diagnostic rates across multiple clinical entities

Anna Lindstrand, H. Stranneheim, K. Lagerstedt-Robinson, M. Kvarnung, N. Lesko, D. Nilsson, B. Anderlid, H. Arnell, C. Backman Johansson, M. Barbaro, E. Björck, H. Bruhn, J. Eisfeldt, M. Engvall, C. Freyer, G. Grigelioniene, P. Gustavsson, A. Hammarsjö, M. Hellström-Pigg, A. Jemt, M. Laaksonen, S. Lind Enoksson, M. Magnusson, H. Malmgren, K. Naess, M. Nordenskjöld, M. Oscarson, M. Pettersson, C. Rasi, A. Rosenbaum, E. Sahlin, T. Stödberg, B. Tesi, E. Tham, H. Thonberg, U. von Döbeln, S. Vonlanthen, A. Wikström, J. Wincent, O. Winqvist, A. Wredenberg, S. Ygberg, R.H. Zetterström, P. Marits, M. Johansson-Soller, M. Johansson Soller, A. Nordgren, V. Wirta, A. Wedell;
Stockholm, Sweden

C08.3 Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Timothy M. Freeman*, Genomics England Research Consortium, D. Wang, J. Harris;
Sheffield, United Kingdom

C08.4

Systematic analysis of short tandem repeats in 38,256 exomes provides additional diagnostic yield

Bart P.G.H. van der Sanden*, M. de Groot, J. Corominas, M. Pennings, R.P.P. Meijer, L.E.L.M. Vissers, E. Kamsteeg, C. Gilissen;
Nijmegen, Netherlands

C08.5 A cost-effectiveness and utility analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Alison Yeung, N.B. Tan, T.Y. Tan, Z. Stark, N. Brown, M.J. Hunter, M. Delatycki, C. Stutterd, R. Savarirayan, G. McGillivray, R. Stapleton, S. Kumble, L. Downie, M. Regan, S. Lunke, B. Chong, D. Phelan, G. Brett, A. Jarmolowicz, Y. Prawer, G. Valente, Y. Samarinsky, M. Martin, C. McEwan, I. Goranitis, C. Gaff, S.M. White;
Parkville, Australia

C08.6 The impact of the 100,000 Genomes Project on rare disease in national healthcare

Damian Smedley, S. Abbs, G. Arno, E. Baple, M. Barnes, P. Beales, M. Bitner-Glindzicz, G. Black, P. Brennan, G. Chan, P. Chinnery, V. Cipriani, S. Ellard, J. Ellingford, P. Elliott, H. Firth, F. Flintner, K. Ibanez Garikano, H. Houlden, M. Irving, J. Jacobsen, E. McDonagh, D. McMullan, L. Moutsianas, W. Newman, W.H. Ouwehand, T. Ratnaike, A. Rueda Martin, C. Penkett, F. Raymond, J. Sayer, R. Scott, K. Smith, H. Stark, K. Stirrups, J. Taylor, E. Thomas, A. Tucci, J. Vandrovcova, L. Vestito, A. Webster, W. Wei, M. Wielscher, H. Williams, A. Wilkie, C. Wright, A. Rendon, M. Caulfield, ,. NIHR BioResource, ,. Genomics England Research Consortium;
London, United Kingdom

Chairs:  tba
Room:   A8

C09.1 The Australian Genomic Health Alliance Mitochondrial Flagship – A national approach to genomic diagnostics

David Thorburn, N. Baker, S. Balasubramaniam, D. Bratkovic, D. Coman, A. Compton, M. Delatycki, C. Ellaway, M. Fahey, J. Fletcher, A. Frazier, R. Ghaoui, H. Goel, D. Hock, M. Kava, N. Lake, P. Lamont, J. Lee, J. Panetta, L. Phillips, R. Rius, M. Ryan, N. Smith, D. Stroud, M. Tchan, M. Walsh, M. Wallis, A. Welch, C. Wools, J. Christodoulou;
Melbourne, Australia

C09.2 High resolution respirometric analysis of a Barth Syndrome disease model

Gregor Oemer*, K. Lackner, J. Koch, E.R. Werner, C. Doerrier, G. Krumschnabel, G. Leman, S. Dubrac, R. Houtkooper, J. Zschocke, M.A. Keller;
Innsbruck, Austria

C09.3 Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.

A.E. Frazier, Alison G. Compton, Y. Kishita, D.H. Hock, A.E. Welch, S.S.C. Amarasekera, R. Rius, L.E. Formosa, A. Imai-Okazaki, D. Francis, M. Wang, N.J. Lake, S. Tregoning, J.S. Jabbari, A. Lucattini, K.R. Nitta, A. Ohtake, K. Murayama, D.J. Amor, G. McGillivray, F.Y. Wong, M.S. van der Knaap, R.J. Vermeulen, E.J. Wiltshire, J.M. Fletcher, B. Lewis, G. Baynam, C. Ellaway, S. Balasubramaniam, K. Bhattacharya, M.L. Freckmann, R.J. Taft, S. Sadedin, M.J. Cowley, A.E. Minoche, S.E. Calvo, V.K. Mootha, M.T. Ryan, Y. Okazaki, D.A. Stroud, C. Simons, J. Christodoulou, D.R. Thorburn;
Melbourne, Australia

C09.4 Hyperuricemia and gout caused by missense mutation in D-lactate dehydrogenase, revealing novel enzymatic activity

Max Drabkin*, Y. Yogev, L. Zeller, R. Zarivach, R. Zalk, D. Halperin, O. Wormser, E. Gurevich, D. Landau, R. Kadir, Y. Perez, O.S. Birk;
Beer-Sheva, Israel

C09.5 Metabolite set enrichment improves biomarker identification and detection in untargeted metabolic profiling (UMP) data for patients with inborn errors of metabolism

Brechtje Hoegen*, U.F.H. Engelke, K.L.M. Coene, J.E. Hampstead, P. Kulkarni, R.A. Wevers, H.G. Brunner, C. Gilissen;
Nijmegen, Netherlands

C09.6 A genome-wide association study for a proxy non-alcoholic fatty liver phenotype identifies novel loci and trait-relevant candidate genes

M. Vujkovic, S. Ramdas, K. Gawronski, K. Lorenz, M. Serper, D.E. Kaplan, R. Carr, K.M. Lee, S. Saiju Pyarajan, T. Edwards, D. Klarin, Y.V. Sun, D.R. Miller, P.D. Reaven, L.S. Phillips, C.J. O’Donnell, J.B. Meigs, P.W.F. Wilson, R. Vickers-Smith, H.R. Kranzler, A.C. Justice, M. Gaziano, S. Muralidhar, S.L. DuVall, T.L. Assimes, J.S. Lee, P.S. Tsao, D.J. Rader, C.D. Brown, S.M. Damrauer, J.A. Lynch, D. Saleheen, Benjamin F. Voight, K.M. Chang, on behalf of the VA Million Veteran Program;
Philadelphia, United States

Chairs:  tba
Room:   A3

C10.1 Recessive vs dominant GWAS of 82,516 coding variants on electronic health records in a population-wide analysis of 176,899 Finns

Henrike O. Heyne, J. Karjalainen, S.M. Lemmelä, FinnGen, A.S. Havulinna, M. Kurki, A. Palotie, M.J. Daly;
Helsinki, Finland

C10.2 Germline genetic testing following tumor sequencing in cancer patients has a remarkably high yield of clinically important findings that inform patient care

Stephen Lincoln, K. Das, N. Ngo, S. Michalski, S. Yang, D. Pineda, E. Esplin, S. Aradaya, R. Nussbaum;
San Francisco, United States

C10.3 The first genotype-phenotype study on European carriers of CDH1 germline mutations

José García-Peláez*, R. Monteiro, L. Sousa, H. Pinheiro, S. Castedo, L. Garrido, M. Teixeira, G. Michils, V. Bours, R. de Putter, L. Golmard & M. Blanluet, C. Colas, P. Benusiglio, S. Aretz & I. Spier, R. Hüneburg, L. Gieldon, E. Schröck, E. Holinski-Feder & V. Steinke, D. Calistri & G. Tedaldi, G. Ranzani, M. Genuardi, C. Silveira & I. Silva, M. Krajc & A. Blatnik, S. Novakovic, A. Patiño-García, J. Soto, C. Lázaro, G. Capellá, J. Brunet-Vidal, J. Balmaña, E. Domínguez-Garrido, M. Ligtenberg, E. Fewings, R. Fitzgerald, E. Woodward, G. Evans, H. Hanson, K. Lagerstedt-Robinson, S. Bajalica-Lagercrantz, C. Egas, C. Martínez-Bouzas et al., K. Dahan & D. Feret, N. Hoogerbrugge, M. Tischkowitz, C. Oliveira;
Porto, Portugal

C10.4 Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of 5182 cases from long QT syndrome and Brugada syndrome consortia cohorts and gnomAD population controls

Roddy Walsh, N. Lahrouchi, C. Glinge, C. Krijger, D. Skoric-Milosavljevic, N. Whiffin, F. Mazzarotto, J.S. Ware, R. Tadros, International Brugada Syndrome Genetics Consortium, International LQTS Genetics Consortium, C.R. Bezzina;
Amsterdam, Netherlands

C10.5 Genome wide association study based on cardiac magnetic resonance imaging in 23,634 individuals identifies five new loci associated with left atrial enlargement

Gustav Ahlberg*, L. Andreasen, J. Ghouse, S. Haunsoe, J.H. Svendsen, M.S. Olesen;
Copenhagen, Denmark

C10.6 Genetic interactions modulate lipid plasma levels and cellular uptake

Magdalena Zimon;, Y. Huang, A. Trasta, J. Liu, C. Chen, A. Halavatyi, P. Blattmann, B. Klaus, C. Whelan, D. Sexton, S. John, E. Tsai, W. Huber, R. Pepperkok, H. Runz;
Heidelberg, Germany

Chairs:  tba
Room:   A2

C11.1 Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Nadja Ehmke, K. Cusmano-Ozog, R. Koenig, M. Holtgrewe, B. Nur, E. Mihci, H. Babcock, C. Gonzaga-Jauregui, J.D. Overton, J. Xiao, B. Fischer-Zirnsak, C. Huber, U. Kornak, S.H. Elsea, V. Cormier-Daire, C.R. Ferreira;
Berlin, Germany

C11.2 Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

Antonio Vitobello, F. Tran Mau-Them, A.L. Bruel, Y. Duffourd, E. Tisserant, P. Callier, S. Moutton, S. Nambot, D. Lehalle, N. Jean-Marçais, J. Delanne, C. Racine, J. Thevenon, C. Poe, T. Jouan, M. Chevarin, M. Willems, C. Coubes, D. Geneviève, N. Houcinat, A. Masurel-Paulet, A. Mosca-Boidron, A. Sorlin, B. Isidor, S. Heide, A. Afenjar, D. Rodriguez, C. Mignot, D. Heron, M. Vincent, P. Charles, S. Odent, C. Dubourg, A. Faudet, B. Keren, B. Cogné, A. Boland, R. Olaso, C. Philippe, J.F. Deleuze, L. Faivre, C. Thauvin-Robinet;
Dijon, France

C11.3 Characterization and treatment of overactive K_ATP channels associated with Cantú syndrome in zebrafish

Helen I. Roessler*, S.S. Singareddy, C. McClenaghan, S. Savelberg, F. Tessadori, J. Bakkers, R. Tyron, C.G. Nichols, G. van Haaften;
Utrecht, Netherlands

C11.4 Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Pauline E. Schneeberger*, F. Kortüm, G.C. Korenke, M. Alawi, R. Santer, M. Woidy, D. Buhas, S. Fox, D. McKnight, M. Alfadhel, B.D. Webb, E.G. Coci, R. Abou Jamra, A. Finck, M. Siekmeyer, S. Biskup, C. Heller, E.M. Maier, P. Javaher-Haghighi, M.F. Bedeschi, P.F. Ajmone, M. Iascone, H. Peeters, K. Ballon, J. Jaeken, A. Rodríguez Alonso, M. Palomares-Bralo, F. Santos-Simarro, M.E.C. Meuwissen, D. Beysen, R. Kooy, H. Houlden, D. Murphy, M. Doosti, E.G. Karimiani, M. Mojarrad, R. Maroofian, B.D. Gelb, I. Kurth, M. Hempel, K. Kutsche;
Hamburg, Germany

C11.5 C’-terminal lacking MN1 variants gain the function leading craniofacial and brain abnormalities in human

Noriko Miyake, H. Takahashi, K. Nakamura, B. Isidor, Y. Hiraki, Y. Kimura, S. Tomizawa, N. Matsumoto;
Yokohama, Japan

C11.6 A novel Bannayan-Riley-Ruvalcaba (BRRS)/CLOVES syndrome model in Xenopus tropicalis, by CRISPR/Cas9

Dionysia Dimitrakopoulou, S. Demuynck, K. Vleminckx;
Ghent, Belgium

Chairs:  tba
Room:   A1

C12.1 Polygenic background of psychotic disorders and genetic determinants of disease severity

Ari V. Ahola-Olli, Z. Misiewicz, N. Mars, M. Lähteenvuo, B. Neale, T. Männynsalo, E. Isometsä, A. Wegelius, J. Hietala, W. Haaki, O. Kampman, J. Veijola, J. Tiihonen, T. Kieseppä, J. Suvisaari, S. Hyman, M. Daly, A. Palotie;
Cambridge, United States

C12.2 Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

M. Amar, A. Pramod, V. Munive Herrera, N. Yu, L.R. Qiu, P. Moran-Losada, P. Zhang, C.A. Trujillo, J. Ellegood, J. Urresti, K. Chau, J. Diedrich, J. Chen, J. Gutierrez, J. Sebat, D. Ramanathan, J.P. Lerch, J.R. Yates III, A.R. Muotri, Lilia M. Iakoucheva;
La Jolla, United States

C12.3 Tissue-specific transcriptional and functional signatures in reciprocal genomic disorders : Insights from integrated mouse and human neuronal models

Rachita Yadav*, D. JC Tai, J. Wang, T. Aneichyk, S. Erdin, B. B Currall, K. O’Keefe, A. Stortchevoi, U. Rudolph, R. H. Perlis, J. F Gusella, M. E Talkowski;
Boston, United States

C12.4 Autism Comorbidities: Role of CHD8 during the Development of the Enteric Nervous System

Gaëlle L. Hayot*, C. Weber, C. Golzio;
Illkirch-Graffenstaden, France

C12.5 A human single-cell atlas of the Substantia nigra reveals novel cell-specific pathways associated with the genetic risk of Parkinson’s disease and neuropsychiatric disorders.

D. Agarwal, C. Sandor, V. Volpato, T. Caffrey, J. Monzon-Sandoval, R. Bowden, J. Alegre-Abarrategui, R. Wade-Martins, Caleb Webber;
Cardiff, United Kingdom

C12.6 Clinical and molecular complexity of X-linked clustering epilepsy, a disorder of cellular mosaics

Jozef Gecz, K. Kolc, L. Sadleir, C. Depienne, C. Marini, I.E. Scheffer, R.S. Moller, M. Trivisano, N. Specchio, R. Kumar, D. Pham, R. Roberts;
Adelaide, Australia

Chairs:  tba
Room:   A5

C13.1 Landscape of cohesin-mediated chromatin loops in the human genome

Fabian Grubert, R. Srivas, D. Spacek, M. Kasowski, M. Ruiz-Velasco, N. Sinnott-Armstrong, P. Greenside, A. Narasimha, Q. Liu, B. Geller, A. Sanghi, M. Kulik, S. Sa, M. Rabinovitch, A. Kundaje, S. Dalton, J. Zaugg, M. Snyder;
Stanford, United States

C13.2 Analysis of chromatin looping at joint endometrial-ovarian cancer risk loci to identify candidate target genes

Dylan Glubb, I. Jeong, A. Spurdle, T. O’Mara;
Brisbane, Australia

C13.3 When the silent genome gets loud: transcription of repeated genomic elements at the single-cell resolution in K27M-mutated high-grade gliomas

Marie Coutelier*, V. Lisi, S. Hébert, D. Faury, B. Krug, N. De Jay, N. Jabado, C.L. Kleinman;
Montreal, Canada

C13.4 CDH1 regulatory noncoding elements: a hidden master for tissue-specific E-cadherin expression

Celina São José*, A.R. Monteiro, A. Qamra, R. Acuna-Hidalgo, P. Tan, S. Mundlos, C. Oliveira;
Porto, Portugal

C13.5 Local gene co-expression: molecular characterisation, tissue specificity and its genetic control

Diogo Ribeiro*, A. Ramisch, E. Dermitzakis, O. Delaneau;
Lausanne, Switzerland

C13.6 Structural variants in HDAC9 that disrupt TWIST1 transcriptional regulation but not HDAC9 protein function are associated with craniofacial and limb malformations

Ramon Y. Birnbaum, N. Hirsch;
Beer-Sheva, Israel

Chairs:   tba
Room:    A4

C14.1 Implication of FOXD2 in autosomal recessive syndromic CAKUT

Korbinian M. Riedhammer, M. Nguyen, B. Alhaddad, S.J. Arnold, G.J. Kim, U. Heemann, M. Schmidts, J. Hoefele;
Munich, Germany

C14.2 Heterozygous DACT1 mutations in patients with renal anomalies and features of Townes-Brocks syndrome

A. Christians, E. Kesdiren, I. Hennies, A.D. Hofmann, M. Trowe, F. Brand, Helge Martens*, I.A. Kindem, Z. Gucev, M. Zirngibl, R. Geffers, T. Seeman, A. Kispert, H. Billing, A. Bjerre, V. Tasic, D. Haffner, J. Dingemann, R.G. Weber;
Hannover, Germany

C14.3 Loss of UNC45A causes microvillus inclusion disease-like by impairing myosin-dependent epithelial morphogenesis

R. Duclaux-Loras, F. Charbit-Henrion, C. Lebreton, O. Nicolle, M. Rabant, C. Guerrera, A. Fabre, L. Faivre, G. Michaux, H. Uligh, F. Ruemmele, N. Cerf-Bensussan, Marianna Parlato;
Paris, France

C14.4 A comprehensive exome study of the genetic architecture of asthma reveals a putative novel patient subgroup defined by filaggrin truncating variants

Sophia R. Cameron-Christie*, H. Olsson, A. Mackay, Q. Wang, M. Hühn, D. Muthas, G. Lassi, J. Lindgren, G. Povysil, D.B. Goldstein, G. Belfield, I. Dillmann, Y. Ohne, S. Cohen, S. Young, A. Platt, S. Petrovski;
Cambridge, United Kingdom

C14.5 Random plasma glucose GWAS in 479,678 individuals: genetic relationships with impaired lung function and intestinal health

Marika A. Kaakinen, L. Jiang, A. Ulrich, L. Zudina, Z. Balkhiyarova, P. Todorov, T.H. Pers, V. Lagou, I. Prokopenko, MAGIC Investigators;
Guildford, United Kingdom

C14.6 A complementary study approach unravels novel players in the pathoetiology of Hirschsprung‘s disease

T. Mederer, Stefanie Schmitteckert, J. Volz, C. Martinez, R. Röth, T. Thumberger, V. Eckstein, J. Scheuerer, C. Thöni, F. Lasitschka, L. Carstensen, P. Günther, S. Holland-Cunz, R. Hofstra, E. Brosens, D. Schriemer, I. Ceccherini, M. Rusmini, J. Tilghman, B. Luzón-Toro, A. Torroglosa, S. Borrego, C. Szeman Tang, M. Garcia-Barcelo, P. Tam, N. Paramasivam, M. Bewerunge-Hudler, C. de la Torre, N. Gretz, G. Rappold, P. Romero, B. Niesler;
Heidelberg, Germany

Chairs:   tba
Room:    Live Stream Area (Exhibition Hall)

More information will follow soon.

Chairs:   tba
Room:    A4

C16.1 Regulating Preimplantation Genetic Diagnosis: A comparison of international policy trends and perspectives

Rosario Isasi, M.E. Ginoza;
Miami, United States

C16.2 Regulation of international direct-to-participant (DTP) genomic research: results and recommendations from a 31-country study

Ma’n Zawati, M. Rothstein, B. Knoppers;
Montreal, Canada

C16.3 Genomic sequencing capacity, data retention and personal access to raw data in Europe

Shaman Narayanasamy*, V. Markina, A. Thorogood, A. Blazkova, M. Shabani, B.M. Knoppers, B. Prainsack, R. Koesters;
Esch-sur-Alzette, Luxembourg

C16.4 The genome as individual property or common good. Conceptualization of the genome within a citizen forum

Chloé Mayeur, W. Van Hoof;
Anderlecht, Belgium

More information will follow in spring 2020.

More information will follow in spring 2020.

Room: A3

Workshop Organiser: Birte Zurek, Olaf Rieß, Holm Gräßner

About the workshop:

The Treatabolome is part of “Solve-RD – solving the unsolved rare diseases”, a research project funded by the European Commission for five years (2018-2022) that aims at answering unsolved RD cases by using a beyond-the-genome, multi-omics approach. The Treatabolome aims at the harvesting of evidence appraised treatment information for rare diseases at a gene and variant level and its collection in a knowledge database to assist clinicians with treatment options. The integration of the Treatabolome data in existing genetic diagnosis tools is the final objective of this Solve-RD work package.

The current workshop summons Treatabolome’s lead actors to explain the concept and methodology adopted during the project, that in a nutshell consists of data assemblage through Systematic Reviews addressing diverse rare diseases specific treatments and building of the informatics platform for sharing that data.

The Workshop participants should acquire a perspective of the complexity of rare diseases gene and variant-specific treatments and an understanding of the contribution of the Treatabolome acting as translational medicine tool that bridges bench to bedside knowledge.

How to interact:

During the workshop, the dialogue with the participants will exist both during the talks and at the end. It includes polling answers to questions and Q&A opportunities during the interactive session.

Workshop speakers:

Gisèle Bonne
Sorbonne Université-Inserm, Centre de Recherche en Myologie, Paris, France

Rachel Thompson
Children’s Hospital of Eastern Ontario Research Institute, Ottawa, Canada

Peter Robinson
The Jackson Laboratory, Farmington, CT, United States

Sergi Beltran and Leslie Matalonga
Centre Nacional d’Anàlisi Genòmica (CNAG-CRG), Barcelona, Spain

More information will follow in spring 2020.

More information will follow in spring 2020.

More information will follow in spring 2020.

More information will follow in spring 2020.

Chairs:  Malte Spielmann
Room:  A6+A7

S06.1 The Human Cell Atlas: Human Development at Single Cell Resolution

Cole Trapnell;
United States

S06.2 The Virtual Embryo: From Single Cells to In Silco Developmental Diology

Nikolaus Rajewsky;
Germany

S06.3 Transcriptome-Scale Super-Resolved Imaging in Tissues by RNA SeqFISH

Long Cai;
United States

Chairs:  Zeynep Tümer
Room:   A3

S07.1 Nonsense Mediated Decay in Neuronal Development and Disease

Miles Wilkinson
United States

S07.2 Genetic Compensation

Didier Stainier
Germany

S07.3 Alternativa Splicing and Nonsense-Mediated Decay

Liana Lareau
United States

Chairs:   Cecilia Lindgren
Room:   A2

S08.1 Large Scale Dissection of the Genetic Architecture of Molecular and Cellular Traits in Adipocytes

Melina Claussnitzer;
Germany

S08.2 Functional Approaches to Gain Insights Into Type 2 Diabetes Loci

Anna Gloyn;
United Kingdom

S08.3 Understanding Blood Cell Production in Health and Disease – From Disease Gene to Mechanism

Vijay Sankaran;
United States

Chairs:   Karin Writzl
Room:    A4

S09.1 Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions

Roddy Walsh;
United Kingdom

S09.2 RNAs in cardiovascular system – the potential use as biomarkers and as therapeutic carriers

Thomas Thum;
Germany

S09.3 The Translational Landscape of the Human Heart

Norbert Hübner;
United Kingdom

Chairs:  Carla Oliveira
Room:   A8

E07.1 Editing the Mammalian Genome: Targets and Tools

Helen O’Niell;
United Kingdom

E07.2 Genome-Wide CRISPR-Cas9 Screening in Immune Cells

Pavel Tolar;
United Kingdom

Chairs:  Ramona Moldovan
Room:   A1

E08.1 What Was, What Is, What If – Trends and Predictions In Assessing Genetic Counseling

Robert Resta;
United States

E08.2 How to help society interact with genomic technology

Anna Middleton;
United Kingdom

Chairs:  Aurora Pujol, Marni Falk
Room:   A5

E09.1 Diagnostic Approach Update in Mitochondrial Disease

Marni Falk;
United States

E09.2 The Origin of mtDNA Mutations: Population Genetics and Disease

Patrick Chinnery ;
United Kingdom