Live Sessions
Please note that all times below refer to Central European Summer Time
10:00 – 11:30 hrs | Plenary Session PL2
Moderators: Alexandre Reymond, Joris Veltman
The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2021 conference.
PL2.1 Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Vicente Yepez, M. Gusic, J. Gagneur, H. Prokisch;
Munich, Germany
PL2.2 Local gene co-expression measurements in single-cells highlight inter-individual specificity
Diogo Ribeiro*, O. Delaneau;
Lausanne, Switzerland
PL2.3 A cross-disorder dosage sensitivity map of the human genome
Ryan L. Collins*, J.T. Glessner, E. Porcu, L. Niestroj, J. Ulirsch, G. Kellaris, D.P. Howrigan, S. Everett, K. Mohajeri, X. Nuttle, C. Lowther, J. Fu, P.M. Boone, F. Ullah, K.E. Samocha, K. Karczewski, D. Lucente, The Epi25 Consortium, J.F. Gusella, H. Finucane, L. Matyakhina, S. Aradhya, J. Meck, D. Lal, B.M. Neale, J.C. Hodge, A. Reymond, Z. Kutalik, N. Katsanis, E.E. Davis, H. Hakonarson, S. Sunyaev, H. Brand, M.E. Talkowski;
Boston, United States
PL2.4 Biallelic ATG7 variants impair autophagy leading to neurological disease
Jack J. Collier*, C. Guissart, M. Olahova, S. Sasorith, F. Suomi, F. Piron-Prunier, D. Zhang, N. Martinez-Lopez, N. Leboucq, A. Bahr, S. Azzarello-Burri, S. Reich, L. Schols, T. Polvikoski, F. Rivier, P. Meyer, L. Larrieu, A. Schaefer, H. Alsaif, S. Alyamani, S. Zuchner, I. Barbosa, C. Deshpande, A. Pyle, F. Alkuraya, M. Ryten, A. Delahodde, A. Rauch, M. Synofzik, R. McFarland, T.G. McWilliams, M. Koenig, R.W. Taylor;
Newcastle, United Kingdom
PL2.5 The first human importin-β-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Ilse Van Gucht, J.A.N. Meester, J. Rodriguez Bento, M. Bastiaansen, J. Bastianen, I. Luyckx, L. Van Den Heuvel, C.H.G. Neutel, P. Guns, M. Vermont, E. Fransen, M.H.A.M. Perik, J. Velchev, M. Alaerts, D. Schepers, S. Peeters, I. Pintelon, A. Almesned, M.P. Ferla, J.C. Taylor, A.R. Dallosso, M. Williams, J. Evans, J.A. Rosenfeld, T. Sluysmans, D. Rodrigues, A. Chikermane, G. Bharmappanavara, K. Vijayakumar, R. Maroofian, Z.N. Al-Hassnan, J. Vogt, N. Revencu, I. Maystadt, A.T. Pagnamenta, L. Van Laer, B. Loeys, A. Verstraeten;
Edegem, Belgium
PL2.6 Epilepsy polygenic risk scores in > 269k individuals with and without epilepsy
Henrike O. Heyne, FinnGen, R. Kälviäinen, M.J. Daly;
Helsinki, Finland
11:30 – 12:00 hrs | Break
12:00 – 13:30 hrs | Concurrent Sessions C08-C14 from submitted abstracts
Moderators: Malte Spielmann, Yasemin Alanay
C08.1 Biallelic loss of function variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities and immune dysregulation
A. Ziegler, R. Duclaux-Loras, C. Revenu, B. Begue, K. Duroure, L. Grimaud, A. Guihot, V. Desquiret Dumas, M. Zarhrate, E. Mas, A. Breton, T. Edouard, C. Billon, M. Frank, E. Colin, G. Lenaers, D. Henrion, S. Lyonnet, L. Faivre, Y. Alembik, A. Philippe, B. Moulin, E. Reinstein, S. Tzur, R. Attali, G. McGillivray, S. White, L. Gallacher, K. Kutsche, P. Schneeberger, K. Girisha, S. Nayak, L. Pais, R. Maroofian, B. Vona, E. Karmiani, C. Lekszas, T. Haaf, L. Martin, F. Ruemmele, D. Bonneau, N. Cerf-Bensussan, F. Del Bene, Marianna Parlato;
Paris, France
C08.2 Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
Lore Pottie*, C.S. Adamo, A. Beyens, S. Lütke, P. Tapaneeyaphan, A. De Clercq, P. Salmon, R. De Rycke, A. Gezdirici, E.Y. Gulec, N. Khan, J.E. Urquhart, W.G. Newman, K. Metcalfe, S. Efthymiou, R. Maroofian, N. Anwar, S. Maqbool, F. Rahman, I. Altweijri, M. Alsaleh, S.M. Abdullah, M. Al-Owain, M. Hashem, H. Houlden, F.S. Alkuraya, P. Sips, G. Sengle, B. Callewaert;
Ghent, Belgium
C08.3 Al-Gazali skeletal dysplasia constitutes the lethal end of ADAMTSL2-related disorders
Dominyka Batkovskyte*, F. McKenzie, F. Taylan, P. Ozlem Simsek-Kiper, S.M. Nikkel, H. Ohashi, H. Miyahara, G. Eriksson, T. Ha, G.E. Utine, T. Chiu, K. Shimizu, A. Hammarsjo, K. Boduroglu, P. Arts, M. Babic, M.R. Jackson, N. Papadogiannakis, A. Lindstrand, A. Nordgren, C.P. Barnett, H.S. Scott, A.S. Chagin, G. Nishimura, G. Grigelioniene;
Stockholm, Sweden
C08.4 Critical role of the TB5 domain of fibrillin-1 in endochondral ossification
Zakaria Mougin, L. Delhon, J. Jonquet, A. Bibimbou, J. Dubail, C. Bou-Chaaya, N. Goudin, W. Le Goff, C. Boileau, V. Cormier-Daire, C. Le Goff;
Paris, France
C08.5 Biallelic variants in ADAMTS15 cause a novel phenotype characterized by congenital contractures of the hands and feet with absent palmar creases
Julia Schmidt, M.O. Cogulu, F. Boschann, A. Aykut, J.E. Posey, K.C. Nannuru, S. Badura, B. Durmaz, F. Ozkinay, K. Brockmann, G. Gillessen-Kaesbach, S. Stricker, A.N. Economides, J.R. Lupski, D. Pehlivan, U. Kornak;
Goettingen, Germany
C08.6 Vascular Ehlers-Danlos syndrome – A comprehensive natural history study in the Dutch patient cohort, preliminary results
S. Demirdas, Jessica Bos*, R.L. Lechner, E. Overwater, S.I.M. Alsters, M.J.H. Baars, A.F. Baas, Ö. Baysal, L. van den Bersselaar, S.N. van der Crabben, E. Dulfer, N.A.A. Giesbertz, A.T.J.M. Helderman-van den Enden, Y. Hilhorst-Hofstee, M.J.E. Kempers, F.L. Komdeur, B. Loeys, D. Majoor-Krakauer, C.W. Ockeloen, J.P. van Tintelen, M. Voorendt, N.C. Voermans, A. Maugeri, I.M.B.H. van de Laar, A.C. Houweling;
Amsterdam, Netherlands
Moderators: Elfride De Baere, Maris Laan
C09.1 NR2E3 transcription factor and photoreceptor fate: identification of gene regulatory networks causing retinal remodelling in NR2E3-associated diseases
Izarbe Aísa-Marín, Q. Rovira, N. Díaz, J.M. Vaquerizas, G. Marfany;
Barcelona, Spain
C09.2 Regulatory architecture of MAB21L2: new elements unveiled by an upstream homozygous deletion in an individual with microphthalmia
Fabiola Ceroni, R. Holt, E. Sorokina, S. Muheisen, M.B. Cicekdal, D. Bax, J. Plaisancié, N. Chassaing, P. Calvas, E. De Baere, K. Vleminckx, E. Semina, N.K. Ragge;
Bologna, Italy
C09.3 CTG18.1-mediated Fuchs Endothelial Corneal Dystrophy: defining signatures of transcriptomic dysregulation in a common repeat-mediated disease
Nihar Bhattacharyya*, N.J. Hafford-Tear, A.N. Sadan, C. Zarouchlioti, K. Muthusamy, P. Liskova, S.J. Tuft, A.J. Hardcastle, A.E. Davidson;
London, United Kingdom
C09.4 Cas9-targeted nanopore sequencing for the repetitive coding region of RPGR, a major cause of X-linked retinal dystrophy
F.L. Motta, M. Daich Varela, T.A.C. de Guimaraes, S. Malka, A.R. Webster, M. Michaelides, J. Ellingford, Gavin Arno;
London, United Kingdom
C09.5 Long-read sequencing to unravel complex structural variants of CEP78 leading to Cone-Rod Dystrophyand Hearing Loss
Giulia Ascari*, N.D. Rendtorff, M. De Bruyne, J. De Zaeytijd, M. Van Lint, M. Van Heetvelde, G. Arno, J. Jacob, D. Creytens, J. Van Dorpe, T. Van Laethem, T. Rosseel, T. De Pooter, P. De Rijk, W. De Coster, B. Menten, A. Dueñas Rey, M. Strazisar, M. Bertelsen, L. Tranebjærg, E. De Baere;
Ghent, Belgium
C09.6 Long-read technologies identify a hidden inverted duplication in a family with choroideremia
Kornelia Neveling, Z. Fadaie, T. Mantere, R. Derks, L. Haer-Wigman, A. den Ouden, M. Kwint, L. O’Gorman, D. Valkenburg, C.B. Hoyng, C. Gilissen, L.E.L.M. Vissers, M. Nelen, F.P.M. Cremers, A. Hoischen, S. Roosing;
Nijmegen, Netherlands
Moderators: Matti Pirinen, Karoline Kuchenbäcker
C10.1 Parent-of-origin inference for biobank scale datasets
Robin J. Hofmeister*, S. Rubinacci, D.M. Ribeiro, Z. Kutalik, A. Buil, O. Delaneau;
Lausanne, Switzerland
C10.2 Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases
Adrien Georges, M. Yang, T. Berrandou, M. Bakker, O. Dikilitas, S. Kiando, M. Yu, L. Liu, S. Kyryachenko, I. Sayoud, D. Dupré, A. Lorthioir, L. Amar, S. Sengupta, K.L. Hunker, B.A. Satterfield, L. Ma, V. d’Escamard, D. Kadian-Dodov, J. Deleuze, C. Brummett, D.M. Coleman, P. de Leeuw, M. Pappaccogli, W. Smigielski, A. Prejbisz, FEIRI investigators, International stroke genetics consortium (ISGC) intracranial aneurysm working group, MEGASTROKE, P. Amouyel, M.L. De Buyzere, S. Debette, P. Dobrowolski, W. Drygas, H.L. Gornik, J.W. Olin, J. Piwonski, E.R. Rietzschel, Y. Ruigrok, M. Vikkula, E. Warchol Celinska, A. Januszewicz, I.J. Kullo, M. Azizi, X. Jeunemaitre, A. Persu, J.C. Kovacic, S.K. Ganesh, N. Bouatia-Naji;
Paris, France
C10.3 Genome-wide association study of more than 40,000 patients with bipolar disorder provides novel biological insights
Andreas J. Forstner, on behalf of the Bipolar Disorder Working Group of
the Psychiatric Genomics Consortium;
Bonn, Germany
C10.4 Genome-wide association study and replication of liver enzyme loci
Raha Pazoki, M. Vujkovic, J. Elliott, E. Evangelou, D. Gill, M. Ghanbari, P.J. van der Most, R. Pinto, M. Wielscher, M. Farlik, V. Zuber, R.J. de Knegt, H. Snieder, A.G. Uitterlinden, .. Lifelines Cohort Study, J.A. Lynch, X. Jiang, S. Said, D.E. Kaplan, K. Lee, M. Serper, R.M. Carr, P.S. Tsao, S.R. Atkinson, A. Dehghan, I. Tzoulaki, A. Ikram, K. Herzig, M. Järvelin, B.Z. Alizadeh, C.J. O’Donnell, D. Saleheen, B.F. Voight, K. Chang, M.R. Thursz, P. Elliott, .. VA Million Veteran Program;
Uxbridge, United Kingdom
C10.5 Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
Kira J. Stanzick*, Y. Li, P. Schlosser, M. Gorski, M. Wuttke, L.F. Thomas, H. Rasheed, B.X. Rowan, S.E. Graham, B.R. Vanderweff, S.B. Patil, C. Robinson-Cohen, J.M. Gaziano, C.J. O’Donnell, C.J. Willer, S. Hallan, B. Åsvold, A. Gessner, A.M. Hung, C. Pattaro, A. Köttgen, K.J. Stark, I.M. Heid, T.W. Winkler;
Regensburg, Germany
C10.6 The genetic relationship between the Vitamin D binding protein and Vitamin D
Clara Albiñana*, N. Borbye-Lorenzen, A.S. Cohen, S.G. Boelt, K. Skogstrand, B.J. Vilhjálmsson, J.J. McGrath;
Aarhus, Denmark
Moderators: Lars Feuk, Christian Gilissen
C11.1 Comprehensive detection of variants in unsolved rare disease cases with PacBio HiFi reads
William J. Rowell, A.M. Wenger, R. Lleras, M.H. McLoughlin, B.M. Moskowitz, E. Farrow, N. Miller, I. Thiffault, S. Chakraborty, C. Lambert, P. Baybayan, T. Pastinen;
Menlo Park, United States
C11.2 Splicing noise is detectable across human tissues and modelling its characteristics is likely to improve the detection of pathogenic splicing within patient-derived samples
Sonia García-Ruiz*, D. Zhang, R.H. Reynolds, A. Gil-Martínez, E. Gustavsson, A. Fairbrother-Browne, S. Guelfi, J.A. Botia, M. Ryten;
London, United Kingdom
C11.3 Whole Blood RNA Sequencing in a Cohort of Patients with Undiagnosed Genetic Conditions
Lianna G. Kyriakopoulou, K. Yuki, H. Hou, S. Barnes, A. Ramani, A. Celic, G. Costain, R. Jobling, S. Mayen, D. Stavropoulos, R. Hayeems, R. Khan, R. Mendoza, R.D. Cohn, S.W. Scherer, J. Dowling, A. Shlien, C.R. Marshall, M.D. Wilson;
Toronto, Canada
C11.4 Practical considerations for utilising ClinVar in variant prioritisation: evidence from the 100,000 Genomes Project
Liam Abrahams, M. McEntagart, D. Kasperaviciute, S. Walker, M. Bleda, A. Rueda Martin, J. Lopez, J. Almeida, M. Imprialou, D. Rhodes, A. Stuckey, E. Thomas, A. Taylor Tavares, H. Brittain, A. Tucci, R.H. Scott, Z. Deans, R. Mein, S.L. Hill, M.J. Caulfield, A. Rendon, Genomics England Research Consortium;
London, United Kingdom
C11.5 Chimeric transcript formation as a new pathogenetic mechanism of rare and undiagnosed diseases: Analysis using whole genome sequencing and long-read transcriptome sequencing.
Mamiko Yamada*, H. Suzuki, A. Watanabe, T. Uehara, T. Takenouchi, S. Mizuno, K. Kosaki;
Tokyo, Japan
C11.6 Evaluating the performance of a clinical genome sequencing programme for diagnosis of rare genetic disease, seen through the lens of craniosynostosis
Rebecca S. Tooze, Z. Hyder, E. Calpena, Y. Pei, S.R.F. Twigg, D. Cilliers, J.E.V. Morton, E. McCann, A. Weber, L.C. Wilson, A. Need, A. Bond, A.L.T. Tavares, H. Brittain, E. Thomas, G.E. Research Consortium, S.L. Hill, Z.C. Deans, F. Boardman-Pretty, M. Caulfield, R.H. Scott, A.O.M. Wilkie;
Oxford, United Kingdom
Moderators: Kelly Ormond, Ramona Moldovan
C12.1 Developing a genomic-competent physician workforce: immersive and structured experiences as part of a multifaceted approach
Melissa Martyn, E. Lynch, F. Maher, T. Charles, C. McEwan, B. McClaren, M. Janinski, F. Cunningham, R. McNeil, A. Niselle, C. Gaff;
Melbourne, Australia
C12.2 Genetic counselling by video consultation during COVID-19 pandemic: the perceived quality
Özlem Baysal*, S. de Munnik, D.A. Koolen, M.H. Willemsen, N. Hoogerbrugge;
Nijmegen, Netherlands
C12.3 Women’s preferences for receiving uncertain results from prenatal genomic testing: An international discrete choice experiment
Celine Lewis, J. Buchanan, J. Hammond, S. Riedijk, J. Klapwijk, E. Harding, S. Lou, I. Vogel, E. Szepe, L. Hui, C. Ingvoldstad-Malmgren, M.J. Soller, K.E. Ormond, M. Choolani, M. Hill;
London, United Kingdom
C12.4 Personality traits predict psychological impact derived from germline cancer genetic testing
Adrià López-Fernández*, G. Villacampa, E. Grau, M. Salinas, E. Darder, E. Carrasco, A. Solanes, A. Velasco, G. Urgell, M. Torres, E. Munté, S. Iglesias, S. Torres-Esquius, N. Tuset, S. Corbella, J. Brunet, J. Balmaña;
Barcelona, Spain
C12.5 Breast cancer polygenic risk scores: A 12-month prospective study of patient reported outcomes and risk management behavior
Tatiane Yanes*, B. Meiser, R. Kaur, M. Young, P.B. Mitchell, M. Scheepers-Joynt, S. McInerny, S. Taylor, K. Barlow-Stewart, Y. Antill, L. Salmon, C. Smyth, B. Betz-Stablein, P.A. James;
Brisbane, Australia
C12.6 A tailored approach towards informing relatives at risk of inherited cardiac diseases: results of a randomised controlled trial
Lieke M. Van den Heuvel*, Y.M. Hoedemaekers, A.F. Baas, M.J.H. Baars, E.M.A. Smets, J. Van Tintelen, I. Christiaans;
Amsterdam, Netherlands
Moderators: Carla Oliveira, Ellen Heitzer
C13.1 Dissecting mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage
Xueqing Zou, G. Koh, S. Nanda, A. Degasperi, K. Urgo, T.I. Roumeliotis, C.A. Agu, C. Badja, S. Momen, J. Young, T.D. Amarante, L. Side, G. Brice, V. Perez-Alonso, D. Rueda, C. Gomez, W. Bushell, R. Harris, J.S. Choudhary, Genomics England Research Consortium, J. Jiricny, W.C. Skarnes, S. Nik-Zainal;
Cambridge, United Kingdom
C13.2 CCNF (Cyclin F) as a candidate gene for familial Hodgkin lymphoma
Elsa Khoury*, H. Maalouf, A. Mendola, S. Choquet, C. Besson, J. Landman Parker, V. D’Angiolella, H.A. Poirel, N. Limaye;
Brussels, Belgium
C13.3 Interpreting TP53 variants identified in HBOC panels: a challenge for geneticists and a major issue for patients
Edwige Kasper*, S. Baert-Desurmont, F. Coulet, N. Basset, L. Golmard, J. Le Gall, N. Boutry-Kryza, J. Albuisson, S. Lizard, C. Toulas, C. Garrec, M. Gay-Belille, N. Sévenet, P. Vilquin, M. Bidart, H. Larbre, G. Bougeard, T. Frebourg, C. Houdayer;
Rouen, France
C13.4 Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
Jette J. Bakhuizen*, H. Hanson, K. van de Tuin, F. Lalloo, M. Tischkowitz, K. Wadt, B.B. Dörgeloh, R.A. Farah, S. Glentis, L. Golmard, J. Hoyer, K. Jahnukainen, R. Jewell, A. Karow, K. Katsibardi, M. Kuhlen, A. Meihnhardt, K. Nemes, A. Poluha, T. Ripperger, N. Waespe, J. Adlard, M. Ahmed, B. Brennan, T. Dabir, D.G. Evans, A. Kelsey, K. Kohut, A. Kulkarni, A. Murray, K. Ong, A. Penn, T. Semple, E.R. Woodward, R.S. van Leeuwaarde, A.S. Littooij, J.H.M. Merks, Å. Rasmussen, H.M. van Santen, S.E. Smetsers, M.C.J. Jongmans;
Utrecht, Netherlands
C13.5 APC mosaicism testing in milder polyposis phenotypes reveals pks+ E.coli bacteria as a possible additional explanation for the development of colorectal adenomas
Diantha Terlouw*, M. Suerink, A. Boot, A.M.J. Langers, D. Ruano, C.M. Tops, T. van Wezel, M. Nielsen, H. Morreau;
Leiden, Netherlands
C13.6 Germline chromothripsis of the APC locus in a patient with adenomatous polyposis
Florentine Scharf, R. Magalhaes Leal Silva, M. Morak, A. Hastie, G. Papoutsoglou, J.M.A. Pickl, K. Sendelbach, T. Haeusser, C. Gebhard, M. Locher, A. Laner, V. Steinke-Lange, U. Koehler, E. Holinski-Feder, D.A. Wolf;
Munich, Germany
Moderators: Alexandre Reymond, Zeynep Tümer
C14.1 DNA methylation episignature testing improves molecular diagnosis of mendelian chromatinopathies
J. Kerkhof, G.M. Squeo*, H. McConkey, M.A. Levy, M.R. Piemontese, M. Castori, M. Accadia, E. Biamino, M. Della Monica, M.C. Di Giacomo, C. Gervasini, S. Maitz, D. Melis, D. Milani, D. Milani, M. Piccione, P. Prontera, A. Selicorni, B. Sadikovic, Giuseppe Merla;
Naples, Italy
C14.2 Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Jérémie Courraud*, E. Chater-Diehl, B. Durand, M. Vincent, M.D. Muniz Moreno, I. Boujelbene, N. Drouot, L. Genschik, A. French and danish geneticists and clinicians, Y. Hérault, J. Thompson, M. Willems, J. Mandel, R. Weksberg, A. Piton;
Strasbourg, France
C14.3 SUFU heterozygous loss of function variants cause a dominantly inherited neurodevelopmental disorder at the mildest end of Joubert Syndrome
Valentina Serpieri*, F. D’Abrusco, S. Nuovo, E. Bertini, G. Vasco, V. Leuzzi, S. D’Arrigo, G. Zanni, E. Boltshauser, E. Valente;
Pavia, Italy
C14.4 Mitochondrial dysfunction and oxidative stress may explain cognitive and muscle impairment in FOXP1 syndrome
H. Fröhlich, Jing Wang*, A. Agarwal, G. Rappold;
Heidelberg, Germany
C14.5 Antisense oligonucleotides targeting SNCA reduce alpha-synuclein and associated cellular pathology in Parkinson’s patient iPSC-derived midbrain dopaminergic neurons
James R. Evans*, G.S. Virdi, M.L. Choi, E.K. Gustavsson, M. Ryten, S. Gandhi;
London, United Kingdom
C14.6 Yield of clinically reportable genetic variants in cerebral palsy by whole genome sequencing
Clare L. van Eyk, D.L. Webber, A. Minoche, L. Perez-Jurado, M. Corbett, A. Gardner, J.G. Berry, K. Harper, A.H. MacLennan, J. Gecz;
Adelaide, Australia
13:30 – 14:00 hrs | Break
14:00 – 15:00 hrs | Corporate Satellites
15:00 – 15:45 hrs | e-Poster Viewing with Authors (Group B)
15:45 – 16:00 hrs | Break
16:00 – 17:00 hrs | Workshops W02-W06
Workshop Organisers: Hennie Burggenwirth, Sam Riedijk
About the workshop:
In this 1-hour workshop we address the challenge of dealing with uncertainty in prenatal genomics. We start by sharing our proposed classification of uncertainties, and acknowledge uncertainties on three levels: laboratory, clinic and patient. Using a most challenging case we recently encountered in our clinic, we identify uncertainties and derive insights in how (not to) handle these. Finally, we will discuss with the audience our lessons learned and translate these to counseling.
Detailed Programme:
16:00 – 16:05
Opening
Hennie Bruggenwirth, Sam Riedijk
16:05 – 16:15
Types of uncertainty: a systematic overview
Jasmijn Klapwijk
16:15 – 16:20
Introduction of prenatal case full of uncertainty
Karin Diderich
16:20 – 16:28
Challenges for lab
Hennie Bruggenwirth
16:28 – 16:36
Challenges for clinic
Karin Diderich
16:36 – 16:44
Challenges for couple
Sam Riedijk
16:44 – 17:00
Panel Discussion
Sam Riedijk, Hennie Bruggenwirth
Workshop Organisers: Carla van El, Guido de Wert
About the workshop:
Cascade testing of a proband’s family members at risk is an established procedure in clinical genetics, although when and how cascade testing is actually pursued varies. Approaches vary not only depending on inheritance pattern and characteristics such as penetrance and age of onset of a disorder. Different regulations apply across jurisdictions on whether and how to inform family members. Discussion is ongoing on the role health care professionals should play in supporting the informing of family members or rather in contacting such family members directly. Recent trends stress the interests and right of family members to be informed more strongly in relation to the right to privacy of the proband. Meanwhile, increasingly, non-genetic health care professionals are involved in caring for families with genetic disorders. In this changing landscape it is relevant to take stock of experiences and emerging practices. What successful examples and strategies can be identified for efficient cascade testing in practice, and what ethical, legal and social challenges are involved ? In this workshop we will share experiences from different countries and explore lessons learned.
Detailed Programme:
16.00-16.03
Introduction
Guido de Wert (Maastricht, The Netherlands)
16.03-16.13
Cascade testing: How should family members be contacted?
Ainsley Newson (Sydney, Australia)
16.13-16.23
Looking after families and individuals in genetics- implications for consent and confidentiality
Anneke Lucassen (Southampton, England)
16.23-16.33
Communication and psychosocial care of HBOC and Lynch syndrome families
Maria Katapodi (Basel, Switzerland)
16.33-16.58
Discussion among speakers and audience moderated by:
Guido de Wert (Maastricht, The Netherlands)
Carla van El (Amsterdam, The Netherlands)
16.58-17.00
Closing
Guido de Wert (Maastricht, The Netherlands)
Workshop Organiser: Robert Kuhn
About the workshop:
The UCSC Genome Browser has been an important source of data and visualization for genetics research and clinical professionals for more than 20 years. The Browser continues to add new features, and even experienced users frequently disclose that they have missed important innovations. This workshop will demonstrate the latest from the Browser.
We have recently revised our representations of data important to the interpretation of variants in the clinical context. Working with ClinVar, ClinGen, gnomAD and others, we now make the details of items displayed in the Browser more available via mouseover in the main Browser graphic. In this way, multiple variants in a region can be investigated more quickly, without a required click-through.
We have also implemented a new feature called “Recommended Track Sets” – one each for copy-number variants and single nucleotide variants. Using this feature, users may, from any location in the genome, launch a pre-configured session with important data automatically displayed.
A new data type has been introduced to aid in the display of ClinVar SNV variants with phenotypes in the five clinical classes (pathogenic > benign), simultaneously showing the variant classes and the number of reports of the variant in each class.
We also now display a data track of exon-capture kits from various manufacturers. This allows users to evaluate the coverage of the genome both when choosing kits for use and to assist in the interpretation of whole exome sequencing experiments.
A number of other new features will also be shown: Mouseover values on wiggle tracks; CADD values; new fonts available
Participants should have experience with the Genome Browser and are encouraged to follow along with the presentation on a separate device. Attendees with limited experience with the Browser would benefit from viewing the three basic video tutorials before attending: http://bit.ly/ucscBasics
Workshop Organisers: Nicole de Leeuw, Erica Gerkes
About the workshop:
Various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting will be discussed in this interactive session. Data including multi-, intra- and intergenic CNVs detected by either genome wide array analysis or in Whole Exome/Genome Sequencing data will be presented.
The aim of this workshop is to focus on various aspects of copy number variant (CNV) interpretation and classification in a diagnostic setting. We will talk about multi-, intra- and intergenic CNVs detected by genome wide array analysis, but also CNV detection in Whole Exome/Genome Sequencing data will be included. We will use illustrative cases from our own diagnostic laboratories to have an interactive discussion on the more challenging findings, that may include reduced-penetrant, recurrent CNVs, noncoding CNVs and structurally rearranged chromosomal imbalances as well as patients with compound heterozygous variants in a recessive disease gene.
Participants are kindly invited to check the Q & A summary.
Detailed Programme:
16:00 – 16:05
Welcome/Introduction
Nicole de Leeuw, University Medical Center Nijmegen, Netherlands
16:05 – 16:25
How relevant CNVs can be missed
Nicole de Leeuw, University Medical Center Nijmegen, Netherlands
16:25 – 16:45
Don’t forget the X
Erica Gerkes, University Medical Center Groningen, Netherlands
16:45 – 16:55
New features for CNV classification in DECIPHER
Julia Foreman, Wellcome Sanger Institute, United Kingdom
16:55 – 17:00
Concluding Remarks
Erica Gerkes, University Medical Center Groningen, Netherlands
Workshop Organisers: Helger Yntema, Gijs Santen
About the workshop:
We will discuss the importance of close collaboration between medical specialists and clinical laboratory geneticists, and how the introduction of exome sequencing as a first test for many disorders affects this collaboration. Formats of collaboration and experiences from different genetic centers dealing with the challenges of the knowledge lag of other health care professionals are discussed. We gladly welcome you to this workshop on this very relevant topic given the broadening scope of genetic testing in the modern clinic, and hope to make the discussion as interactive as possible given the circumstances.
Detailed programme:
16:00-16:05
Welcome and brief introduction of the workshop topic and format
Helger Yntema, Gijs Santen
16:05-16:15
Reporting genetic results to non-geneticists: A UK laboratory geneticist’s experience
Thalia Antoniadi, United Kingdom
16:15-16:25
When pediatricians request large gene panels: a Norwegian geneticist’s perspective
Trine Prescott, Norway
16:25-16:35
Genotype-first approach in children with a developmental delay/intellectual disability; the Dutch paediatrician’s perspective
Joyce Geelen, The Netherlands
16:35-16:45
Improving communication of genetics results to nonspecialists
Gabriel Recchia, United Kingdom
16:45-17:00
Questions, interactive panel discussion
Helger Yntema, Gijs Santen
17:00 – 17:30 hrs | Break
17:30 – 18:00 hrs | Corporate Satellites
18:00 – 18:30 hrs | Break
18:30 – 19:45 hrs | Concurrent Symposia S07-S12
Moderators: Malte Spielmann, Barbara Rivera
S08.1 Transcriptional programs of brain tumors
Claudia Kleinman;
Canada
S08.2 Early cancer development from a single-cell perspective: limitations, challenges and opportunities
Renee Beekman;
Spain
S08.3 Intratumoral genetic heterogeneity at a single cell resolution
Linghua Wang;
United States
Moderators: Matti Pirinen, Zoltan Kutalik
S09.1 Ancestry characterization of the Chilean population and its relevance to health
Ricardo Verdugo;
Chile
S09.3 Ethics and inclusivity when working with indigenous populations
Emma Kowal;
Australia
Moderators: Enza Maria Valente, Nicola Brunetti-Pierri
S10.1 AAV gene therapy for glycogen storage diseases
Dwight Koeberl;
United States
S10.2 mRNA replacement therapy for inborn errors of liver metabolism
Paolo Martini;
United States
S10.3 Lentiviral vectors for liver-directed gene therapy
Alessio Cantore;
Italy
Moderators: Carla Oliveira, Ellen Heitzer
S11.1 Genetic predisposition to medulloblastoma: Somatic evolution and clinical implications
Sebastian M. Waszak;
Norway
S11.2 Non-Invasive Early Lung Cancer Detection
Maximillian Diehn;
United States
S11.3 Therapeutic vulnerabilities from epigenetic alterations in cancer
Nada Jabado;
Canada
Moderators: Alexandre Reymond, Christian Gilissen
S12.1 DNA methylation episignatures in Mendelian neurodevelopmental disorders
Bekim Sadikovic;
Canada
S12.2 Neuronal phenotyping to assess ID/DD variants
N.Nadif Kasri;
Netherlands
S12.3 Effects of somatic variants on iPSC differentiation
Helena Kilpinen;
Finland
Moderators: Maris Laan, Joris Veltman
S13.1 New insights into aneuploidy in mammalian embryos
Melina Schuh;
Germany
S13.2 Meiotic crossover – novel insights
Scott Keeney;
United States
S13.3 Chromosomal errors originating in oocytes determine the curve of natural fertility in humans
Eva R. Hoffmann;
Denmark
Note that the programme is subject to change, and will be updated continuously up to the conference