Saturday, June 11

Room: Hall A

E01.1 In vivo CRISPR/Cas9 targeting of fusion oncogenes for selective elimination of cancer cells

Sandra Rodriguez-Perales;
Spain

E01.2 Treatment of genetic liver diseases by in vivo genome editing in mice and macaques

Gerald Schwank;
Switzerland

E01.3 Gene Editing of Human Hematopoietic Stem Cells for Treatment of Inherited Immune Deficiencies

Suk See DeRavin;
United States

E01.4 In vivo gene editing in neurological disorders

Gabriele Lignani;
United Kingdom

Hall A
Chairs: William Newman

E02.1 The Many Meanings of Mutation: Rethinking the History of Genetics

Luis Campos;
United States

E02.2 From Mendel´s legacy to Mendelian disorders

Sarka Pospisilova;
Czech Republic

Room: Hall D
Chair: Joris Veltman

E03.1 Evolutionary genomics in Africa

Michele Ramsay;
South Africa

E03.2 The importance of diversity in genomic medicine

Charles Rotimi;
United States

Room: Hall E1
Chairs: Mridul Johari and Juliana Xavier de MIranda Cerqueira

E04.1 Honesty in science: why negative results matter

Devang Mehta;
Canada

E04.2 Why don’t researchers publish “negative” results in genetics?

Virginia Arechavala-Gomeza;
Spain

Panel discussion “Negative results – an editor’s perspective”

Magdalena Skipper;
nature, United Kingdom

Alisdair McNeill;
European Journal of Human Genetics, United Kingdom

Room: Hall E2
Chairs: Karin Writzl

E04.1 Chromosomal mosaicism in preimplantation and prenatal diagnosis

Francesca Grati;
Italy

E04.2 Categorization and subtyping of mosaicisms

Pablo Lapunzina;
Spain

Room: Hall F1
Chairs: Edward Dove

E04.1 Genetic discrimination: International ethico-legal perspectives and the Genetic Discrimination Observatory

Yann Joly;
Canada

E04.2 Genetic discrimination: the Australian moratorium and the A-GLIIMMER project

Jane Tiller;
Australia

Room: Hall K
Chairs: Alexandre Reymond

E04.1 Efficient phasing and imputation of low-coverage sequencing data

Olivier Delaneau;
Switzerland

E04.2 Haplotype phase inference

Brian Browning;
United States

Room: Hall F2

The goal of the workshop is to provide an introduction into WES/WGS for people without much experience yet.

Learning objectives:

Understanding the basics of laboratory, bioinformatics and interpretation processes for exome sequencing
Learning about common mistakes made in these processes

Detailed schedule:

Introduction (10:30-10:35)
Prof. Christian Gilissen, Radboud university medical center, Nijmegen, The Netherlands

WES sequencing and analysis (10:35-11:00)
Dr. Leslie Matalonga, Centre for Genomic Regulation (CRG), Barcelona, Spain

Interpretation in the clinic, how to handle a VUS (11:00-11:20)
Dr. Lot Snijders Blok, Radboud university medical center, Nijmegen, The Netherlands

Case discussions for WES (11:20-11:40)
Prof. Siddharth Banka, Manchester Centre for Genomics Medicine, Manchester, United Kingdom

Common mistakes in clinical exome sequencing (11:40-12:00)
Dr. Gijs Santen, Leiden university medical center, Leiden, The Netherlands

Room: Hall A
Chairs: Maurizio Genuardi, Alexandre Reymond

ESHG President
Maurizio Genuardi

ESHG Scientific Programme Committee Chair
Alexandre Reymond

President of the Austrian Society for Human Genetics
Johannes Zschocke

Room: Hall A
Chairs: Maurizio Genuardi, Alexandre Reymond

PL1.1 Leena Peltonen Lecture

Speaker will be announced on Saturday, June 11, 2022;

PL1.2 Genetics of weight regulation

Sadaf Farooqi;
United Kingdom

PL1.3 Highly accurate protein structure prediction and its implications for understanding human biology

John Jumper;
United Kingdom

Room: Hall 3
Chairs: Alexandre Reymond and Joris Veltman

The What’s New? Highlight Session is dedicated to the highest scored papers from abstract submission for the ESHG 2022 conference.

PL2.1 Single cell, whole embryo phenotyping of pleiotropic disorders of mammalian development
Jana HENCK*, Germany

PL2.2 Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders (virtual)
Chelsea LOWTHER, United States

PL2.3 Long-read sequencing reveals heritable large structural variants induced by CRISPR-Cas9
Ida HÖIJER*, Sweden

PL2.4 Loss-of-function of AMFR causes autosomal recessive hereditary spastic paraplegia by altering lipid metabolism
Ruizhi DENG*, Netherlands

PL2.5 An integrated approach using multi-omics data to dissect cis-regulatory role of ultraconserved non-coding elements (UCNEs) in human retina
Víctor LÓPEZ SORIANO*, Belgium

PL2.6 Noncoding regulatory mutations as driving event for the oncogenic core regulatory circuitries of neuroblastoma
Vincenzo AIEVOLA*, Italy

Room: Hall A
Chairs: Franco Laccone and Jeshurun Chiaran Kalanithy

C01.1 Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a novel neurodevelopmental syndrome
Tiong Yang TAN, Australia

C01.2 Biallelic variants in GTF3C3 result in an autosomal recessive intellectual disability
Kerith-Rae DIAS*, Australia

C01.3 A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
María del Rocío PÉREZ BACA*, Belgium

C01.4 Pathogenic variants in U2AF2 and PRPF19 encoding essential spliceosomal subunits cause neurodevelopmental disorders with autistic features
Dong LI, United States

C01.5 De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy and autism spectrum disorder
Yoeri SLEYP*, Belgium

C01.6 Bi-allelic variants in the neuronal cell adhesion molecule NRCAM lead to a novel neurodevelopmental disorder characterized by developmental delay, hypotonia, peripheral neuropathy or spasticity
Hagit BARIS FELDMAN, Israel

Room: Hall D
Chairs: Jochen Geigl and Dieter Tulkens

C02.1 Estimating the prevalence of pathogenic germline variants in cancer susceptibility genes in 1,336 cases of renal cell carcinoma
Bryndis YNGVADOTTIR, United Kingdom

C02.2 Short and long read targeted RNAseq approaches to detect complex abnormalities for cancer susceptibility genes
Camille AUCOUTURIER, France

C02.3 Unveiling the differential disease spectrum in carriers of Pathogenic and Likely Pathogenic germline CTNNA1 variants
Silvana LOBO*, Portugal

C02.4 Colorectal cancer risk: the interplay of polygenic background, high-impact monogenic variants, and family history
Stefan ARETZ, Germany

C02.5 Coping with incidental findings in cancer susceptibility genes after exome sequencing in paediatric patients
Estela CARRASCO, Spain

C02.6 Cancer risks by cancer type, gender and PTEN variant type in a large cohort of PTEN Hamartoma Tumour Syndrome patients
Janet VOS, Netherlands

Room: Hall E1
Chairs: tba

C03.1 Mapping the functional impact of immune-associated regulatory elements through single-cell CRISPR-based screens
Celia ALDA CATALINAS, United Kingdom

C03.2 Extreme long-range gene regulatory perturbation drives a human craniofacial disorder
Hannah LONG, United Kingdom

C03.3 Leveraging interindividual variability of regulatory activity refines genetic regulation of gene expression in schizophrenia
Maris ALVER*, Switzerland

C03.4 Sex differences in gene expression in human induced pluripotent stem cells
Hande TOPA*, Finland

C03.5 Systematic reconstruction of cellular trajectories across mouse embryogenesis (virtual)
Chengxiang QIU*, United States

C03.6 Identification of genetic variants that impact gene co-expression relationships using large-scale single-cell data
Shuang LI, Netherlands

Room: Hall E2
Chairs: Zeynep Tümer and Christian Windpassinger

C04.1 Solving patients with rare diseases within Telethon Undiagnosed Disease Program through reanalysis of exome-phenome data
Manuela MORLEO, Italy

C04.2 Genetic and mechanistic dissection of non-muscle actinopathies caused by ACTB or ACTG1 variants
Nataliya DI DONATO, Germany

C04.3 ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and in a mouse model with altered synaptic activity
Benoit MAZEL*, France

C04.4 Oligogenic inheritance in neural tube defects : major involvment of primary cilia, planar cell polarity and extracellular matrix genes
Marie FAOUCHER*, France

C04.5 Genomic studies in analysis of human fetal anomalies
Shalini NAYAK*, India

C04.6 A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2
Melanie BRUGGER, Germany

Room: Hall F1
Chairs: Martin Kircher

C05.1 Ancestral genomic contributions to complex traits in contemporary Europeans
Davide MARNETTO, Italy

C05.2 Phenome-wide perspective into the role of Finnish Y chromosome variation in complex diseases
Annina PREUSSNER*, Finland

C05.3 Disentangling signatures of selection before and after European colonization in Latin Americans
Javier MENDOZA REVILLA*, France

C05.4 Dense sampling of ethnic groups within five African countries reveals extensive historical admixture
Nancy BIRD*, United Kingdom

C05.5 Assessment of mitochondrial genome constraint across >50,000 individuals in gnomAD to facilitate variant interpretation
Nicole J. LAKE*, United States

C05.6 The Landscape of the Immune System Over the Last 10,000 Years of Human Evolution
Gaspard KERNER, France

Room: Hall F2
Chairs: Gunda Schwaninger and Danya Vears

C06.1 Exploring Australian genetic counsellors’ perceptions and readiness to deliver behaviour change
Chris JACOBS, Australia

C06.2 The efficacy of online genetic counselling: a meta-analysis
Andrada CIUCA*, Romania

C06.3 Socio-economic costs of rare diseases and the risk of financial hardship (virtual presentation)
Brian Hon Yin CHUNG, Hong Kong

C06.4 Updated guidance on genetic testing in childhood from British Society for Genetic Medicine: practical ethics in the age of genomics
Tara CLANCY, United Kingdom

C06.5 Preimplantation genetic testing for polygenic conditions (PGT-P): perspectives of healthcare professionals
Maria SIERMANN*, Belgium

C06.6 An interactive, online education program to prepare the Australian workforce to incorporate rapid genomics in paediatric critical care
Clara GAFF, Australia

Room: Hall K
Chairs: Markus Keller and Julia Baptista

C07.1 Bi-allelic variants in TAMM41 are associated with low muscle cardiolipin levels leading to neonatal mitochondrial disease
Kyle THOMPSON, United Kingdom

C07.2 Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
Rauan KAIYRZHANOV*, Kazakhstan

C07.3 Transcriptomic analysis reveals dysregulation of different cellular pathways in PMM2-CDG: towards the identification of novel therapeutic targets
Diana GALLEGO*, Spain

C07.4 Alteration of mitochondrial proteostasis in Costello syndrome
Didier LACOMBE, France

C07.5 Frequency of MC4R pathway variants in a large US cohort of patients with severe obesity
Patrick SLEIMAN, United States

C07.6 An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3,720 patients
Ligia ALMEIDA, Germany