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:  Valerie Cormier-Daire, 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, Cecilia Lindgren

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:  Caroline Wright, 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, Katie Snape

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

More information

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 encouraged to send questions, comments or suggestions related to this topic before June 11, 2021, by e-mail to: Nicole.deLeeuw@radboudumc.nl

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

More information

18:00 – 18:30 hrs | Break

18:30 – 19:45 hrs | Concurrent Symposia S07-S12

Moderators:  Jose Luis Costa, Barbara Rivera

S08.1 Transcriptional programs of brain tumors

Claudia Kleinman;
Canada

S08.2 Epigenomics of single cells in cancer

Renee Beekman;
Spain

S08.3 Intratumoral genetic heterogeneity at a single cell resolution

Linghua Wang;
United States

Moderators:  Cecilia Lindgren, Matti Pirinen

S09.1 Ancestry characterization of the Chilean population and its relevance to health

Ricardo Verdugo;
Chile

S09.2 The Mexico Biobank Project

Andrès Moreno;
Mexico

S09.3 Ethics and inclusivity when working with indigenous populations

Emma Kowal;
Australia

Moderators:  Nicola Brunetti-Pierri, Valerie Cormier-Daire

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, Katie Snape

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;
Australia

S12.3 Variants and cellular traits

Helena Kilpinen;
Finland

Moderators:  Maris Laan, Elfride De Baere

S13.1 Cytoskeletal organization and function in oocyte meiosis

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

19:45 – 20:15 hrs | Break

20:15 – 21:45 hrs | Corporate Satellites

More information

Note that the programme is subject to change, and will be updated continuously up to the conference