EUROPEAN HUMAN GENETICS CONFERENCE 2020Messe Berlin - CityCube | Berlin - Germany | June 6 - 9

Invitation to the conference

Dear Human Geneticists, Dear Colleagues, Dear Friends, I am honored to invite you to the 53rd annual European Human Genetics Conference that will be organized for the second time in Berlin from Saturday June 6 to Tuesday June 9, 2020. I am privileged to be your host in a city that bonds East and West like the ESHG bridges countries from Europe and beyond and different human genetic specialties. If you have time do no hesitate to spend some extra days to truly feel the vibrant atmosphere of Germany’s capital.

At the ESHG meeting, we thrive to bring you what is at the forefront of human genetics both scientifically and technologically without losing sight of educating the upcoming generation of human geneticists. It is with these goals in mind that our Scientific Program Committee (SPC) establishes the meeting schedule. It invites the best speakers for the concurrent symposia and selects the best abstracts for oral presentations during the concurrent sessions to create a program that represents the breadth of our specialty. These presentations are completed by a set of educational sessions given by invited speakers and which are aimed to update you on various topics in genetics. Our meeting would not be complete without our exhibitors who advertise their new products to help you in your clinic, your diagnostic laboratory and your experimental work. I am particularly pleased to see that year after year many young human geneticists present their results and compete for our multiple young investigators awards. Their enthusiasm and passion when they take the stage is an integral part of the ESHG meeting.

Our meeting is also the ideal forum to make contacts, meet new and old friends, as well as plan with others a scientific hypothesis to be tested before the next meeting. While these could take place in the convention center, why not at our Monday networking evening? Over the years the ESHG networking evening became a memorable tradition where generation intermix and where you can talk to friends in a relaxed atmosphere. As a bonus you get good food and excellent music – for an affordable and subsidized price.

In summary, the ESHG meeting is the place to be if you are a human geneticist, whatever your professional background.

We hope to see numerous in Berlin!

Alexandre ReymondPresidentEuropean Society of Human Genetics

General Information

The European Society of Human Genetics promotes research in basic and applied human and medical genetics and facilitates contact between all persons who share these aims.

This international conference (now in its 53rd year) is a forum for all workers in human and medical genetics to review advances and develop research collaborations. The conference is one of the premier events in the field of human genetics with over 4,000 participants, more than 250 oral presentations, 18 workshops and 14 educational sessions and a dedicated track on psychosocial aspects of genetics. The ESHG conference is where the latest developments in human genetics are discussed and where professionals from all parts of human genetics meet. The ESHG offers Young Scientist Awards, Conference Fellowships for young researchers, dedicated fees for underprivileged countries and welcomes over 160 exhibitors from all over the world.

Further DetailsThe website https://2020.eshg.org will open in October 2019.

Abstract SubmissionOnline via https://2020.eshg.org. Closing date: Friday, February 14, 2020

OrganiserWiener Medizinische Akademie GmbHTel: +43 1 405 13 83 39 - Email: conference@eshg.org

Exhibition, Sponsoring, Corporate SatellitesRose InternationalTel: +31 70 383 8901 - Email: eshg@rose-international.com

Berlin, GermanyThe German capital is a melting pot of ideas and innovation; a city of diversity, contrasts and a vibrant creative metropolis. Berlin has an eventful history, a pulsating lifestyle, and has reinvented itself as a cosmopolitan city with a unique flair. Open-minded and intriguing, multi-cultural and multi-lingual, but also with an outstanding infrastructure. The city’s diversity and innovative power have helped to create a positive, international image.

1967 - 2020 | 53rd Meeting

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EUROPEAN SOCIETY OF HUMAN GENETICS

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Saturday, June 6 08:00 10:00 10:30 12:00 12:15 14:00 14:30 16:00 16:30 18:00 18:30 20:00

E01 New Technologies CoffeePosters Exhibition

E02 Statistical Rigor and Reproducibility in Genetic ResearchE03 Pharmacogenomics in the ClinicE04 Hypermobility and the Ehlers Danlos Syndromes

LunchPostersExhibition

Corporate Satellites

Opening Welcoming Addresses

Opening Plenary Session PL1

Fruit BreakPosters Exhibition

Plenary Session PL2„What‘s New? -Highlights

CoffeePosters Exhibition

Concurrent Sessions C01-C07 from submitted abstracts

Networking Mixer

W01 NGS in the Clinic - Mistakes and Quality AssuranceW02 Dysmorphology IW03 Molecular Newborn Screening vs. Newborn TestingW04 GenEthics

Sunday, June 7 08:30 10:00 10:30 12:00 12:00 13:00 14:15 15:45 16:00 17:15 19:00

S01 What to Expect from Prenatal DiagnosisS02 Multi-omics Approaches for Diagnosing Rare DiseasesS03 Liquid Biopsy for Early Detection of CancerS04 Our AncestryS05 Public and Patient Engagement

CoffeePosters Exhibition

Concurrent Sessions C08-C15from submitted abstracts

Lunch Corporate Satellites

Poster Viewing with Authors Group A

W05 Exome and Genome Variant InterpretationW06 Prenatal DiagnosisW07 „Treatabolome“: A Treatment Awareness Project for Rare DiseasesW08 Science CommunicationW09 UCSC Genome BrowserW10 Community Genetics: Prospects for Curing Genetic DisordersW11 Pharmacogenomics in Practice

Fruit BreakPosters Exhibition

Poster Viewing with Authors Group B

S06 Development and Disease at Single Cell ResolutionS07 Making Sense out of NonsenseS08 Strategies and Applications in Translating GWAS to FunctionS09 Cardiovascular Genetics

Corporate Satellites

E05 Interpreting Variation Outside of Protein-coding SequenceE06 Brain Size Matters!

Corporate Satellites E07 Genome Editing: Multiple Tools and their ApplicationsE08 Does Genetic Counselling Work?E09 Updates on Mitochondria Diagnostics

ESHG Membership Meeting

Monday, June 8 08:30 10:00 10:30 12:00 12:00 12:15 13:00 14:15 15:45 16:00 17:15 19:30

S10 Beyond Mendelian InheritanceS11 Single Cell Cancer GeneticsS12 Embryo and Placenta: Equal PartnersS13 Where Science and Ethics MeetS14 Lysosomes in Health and Disease

CoffeePosters Exhibition

Concurrent Sessions C16-C23from submitted abstracts

Lunch Corporate Satellites

ELPAG Award Lecture

Poster Viewing with Authors Group C

W12 Copy Number Variant Interpretation and ClassificationW13 Dysmorphology IIW14 Exome Pipelines for CliniciansW15 Using the Ensembl VEP for Analysing Variants in Rare and Common DiseaseW16 Genetic Counselling Models for Genomic ScreeningW17 European Reference Networks - What is in it for me?W18 Reproducible and Transparent Analysis with Galaxy

Fruit BreakPosters Exhibition

Poster Viewing with Authors Group D

S15 ESHG-ASHG Building Bridges Session on Polygenic Risk Scores: Risky or Useful in the Clinic?S16 Detection of Structural VariationS17 Genetic Mechanisms in Haematological NeoplasiasS18 Cornelia de Lange Syndrome and Cohesinopathies

Networking Party

E10 Therapy for Rare DisordersE11 Heritability Estimations

Corporate Satellites E12 Artificial Intelligence in BiomedicineE13 Mainstreaming Mitochondrial Replacement Techniques?

Tuesday, June 9 09:00 10:30 11:00 12:30 13:30 14:15 15:30 16:00

S19 Clonal fitness of Somatic MutationsS20 Data-driven Genomic Care and its Implementation in the Clinic: a Paradigm ShiftS21 Integrating Large-scale Functional Data into Genome-wide Association Studies

Coffee Break

Concurrent Sessions C24-C29from submitted abstracts

LunchBreak

PL3 Mendel Lecture PL4 ESHG Award Lecture PL5 Award SessionESHG Education AwardEJHG-SN Citation AwardsESHG Awards for Best Presentations by Young Investigators

End of Meeting

E14 Repeat Expansions: From Detection to TreatmentE15 Variant Interpretation in Hereditary Cancer: Lessons Learned from Big International ConsortiaE16 Revisiting Consanguinity in the Era of Improved Genomic Diagnosis

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ESHG Scientific Programme Committee

Joris Veltman, UK , Chair

Yasemin Alanay, TRNicola Brunetti-Pierri, ITValerie Cormier-Daire, FRJose Luis Costa, PTElfride de Baere, BEVita Dolzan, SIEdward Dove, UKFrancesca Forzano, UKChristian Gilissen, NLMartin Kircher, DEZoltan Kutalik, CHMaris Laan, EEConxi Lazaro, ESCeline Lewis, UKCecilia Lindgren, UKRamona Moldovan, ROSerena Nik-Zainal, UKCarla Oliveira, PTMatti Pirinen, FIAurora Pujol, ESSam Riedijk, NLMichael Speicher, DEMalte Spielmann, DEDoris Steinemann, DEZeynep Tümer, DKEnza Maria Valente, ITThierry Voet, UKBernd Wollnik, DEKarin Writzl, SIJohannes Zschocke, DE

ESHG Annual Meetings Committee

Andrew Read, UK, AMC ChairJoris Veltman, NL, SPC ChairAlexandre Reymond, CH, PresidentMaurizio Genuardi, IT, President-ElectGunnar Houge, NO, Vice-President Karin Writzl, SI, Secretary GeneralCarla Oliveira, PT, Dep.-Secr. GeneralJerome del Picchia, AT, Executive OfficerJantie de Roos, NL, Advisor Flora van Laer, NL, AdvisorSarah Pirklbauer, AT, AdvisorOscar Pacheco, CR, Advisor

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Preliminary Schedule ESHG 2020 The programme is subject to changeCommittees

Deadline for Submission of Abstracts:Friday, February 14, 2020More on https://2020.eshg.org

Plenary SessionsConcurrent SymposiaEducational Sessions

Concurrent SessionsPoster SessionsCorporate Satellites

Workshops