Programme at a Glance

Pre-conference courses

(separate registration needed)

Thursday, May 22, 2025

09:00 – 17:00 Clinical NGS Data Interpretation Course

Friday, May 23, 2025

09:00 – 17:00 Clinical NGS Data Interpretation Course

13:00-18:30 Unleashing the Power of Large-Scale Genomic Public Databases

13:30-18:30 A professional development workshop: Interactive approaches to genetic teaching

Conference programme

Saturday, May 24, 2025

08:30 – 10:00	Educational Sessions E01 E01 Single cell genomics and diseases	Workshop W01-W03 W01 The art of writing, reading, understanding and interpreting genetic reports W02 Dysmorphology 1 W03 GenEthics	Concurrent Symposia S01-S03 S01 Long-read genomes in health and disease S02 Viral Mimicry in Cancer S03 Gaucher’s and Parkinson’s disease: partners in crime
10:00 – 10:30	Coffee Break – Poster Mounting – Exhibition
10:00 – 11:15	Corporate Sessions
10:30 – 12:00	Concurrent Sessions C01-C07
12:00 – 13:45	Lunch Break – Free Poster Viewing – Exhibition
12:15 – 13:15	ESHG Podcast “Genetic Sounds” Live – Click here to listen to previous episodes
12:15 – 13:45	G01 Get2Gether: Uniting European Young Initiatives in Human Genetics
12:15 – 13:30	Corporate Sessions
13:45 – 14:15	PL0 Welcoming addresses
14:15 – 14:30	PL1 ELPAG Award Lecture
14:30 – 16:00	PL2 Opening Plenary
16:00 – 16:30	Fruit Break – Free Poster Viewing – Exhibition
16:30 – 18:00	PL3 What’s New? Highlight Session from submitted abstracts
18:00 – 18:30	Coffee Break – Free Poster Viewing – Exhibition
18:30 – 20:00	Concurrent Sessions C08-C14
20:00-21:30	Opening Networking Mixer

Sunday, May 25, 2025

08:30 – 10:00	Educational Sessions E02 E02 New treatment avenues	Workshop W04-W07 W04 Long-read sequencing for beginners W05 Structural chromosomal variants W06 Nonsense-mediated mRNA decay; research and diagnostic variant assessment and interpretation challenges W07 Implementing pharmacogenetic testing into de clinics: let’s debate	Concurrent Symposia S04-S05 S04 Genetics at single cell resolution: spatial, temporal and morphology S05 Decoding actionability, severity, and utility in genomics
10:00 – 10:30	Coffee Break – Free Poster Viewing – Exhibition
10:30 – 12:00	Concurrent Sessions C15-C22
12:00 – 13:00	Lunch Break – Free Poster Viewing – Exhibition
12:00 – 13:00	Corporate Sessions
12:15 – 12:45	Corporate Presentation
12:15 – 13:15	G02 Get2Gether: European Reference Networks: Are we there yet? + IRDiRC
12:15 – 13:45	W08 How to publish your genomics research
13:00 – 13:30	Corporate Presentation
13:00 – 14:00	Poster Viewing with Authors and coffee (Group A) – Only for in-person participants
14:00 – 14:15	Time to change rooms
14:00 – 15:30	Corporate Sessions
14:15 – 15:45	G03 Get2Gether: The Genome of Europe and All of Us initiatives
14:15 – 15:45	Concurrent Symposia S06-S09 S06 Somatic mutations in normal tissues S07 Genetics of AI-derived phenotypes S08 Genomics of big neuromuscular genes S09 Fetal therapies	Workshops W09-W11 W09 Mutations we almost missed W10 Tools for clinical genome interpretation W11 Prioritizing the counselling in genetic counselling
15:45 – 16:00	Fruit Break – Free Poster Viewing – Exhibition
16:00 – 17:00	Poster Viewing with Authors and coffee (Group B) – Only for in-person participants
16:00 – 17:00	G04 Get2Gether: ISCN 2024 – Free Interactive Wokshop GenQA
17:00 – 17:15	Time to change rooms
17:15 – 18:45	Concurrent Symposia S10-S13 S10 The non-coding genome: gene regulation and disease S11 Penetrance and Expressivity S12 Expanding data sources: technical, ethical and legal considerations S13 Does genomic screening leave open the door to eugenics?	Educational Sessions E03-E05 E03 Cancer Evolution E04 Scalable proteomics empower human genetics and epidemiology E05 Leukodystrophies
18:45 – 20:15	Corporate Sessions

Monday, May 26, 2025

08:30 – 10:00	Educational Sessions E06 E06 Effects of Structural Variants on the 3D Genome	Workshop W12-W14 W12 Genomic Newborn Screening: learning from current programmes W13 Dysmorphology 2 W14 Genomics Data	Concurrent Symposia S14-S16 S14 Reassessing complex trait inheritance through eQTLs S15 Implementing gene editing S16 Growth retardation: endocrinologists meet geneticists
08:30 – 10:00	Corporate Sessions
10:00 – 10:30	Coffee Break – Free Poster Viewing – Exhibition
10:30 – 12:00	Concurrent Sessions C23-C30
12:00 – 13:00	Lunch Break – Free Poster Viewing – Exhibition – Lunch
12:00 – 13:00	Corporate Sessions
12:15 – 12:45	Corporate Presentation
12:15 – 13:15	ESHG General Assembly
12:15 – 13:15	G05 Get2Gether: Medical Genetics Professionals: what we can anticipate for the future?
13:00 – 13:30	Corporate Presentation
13:00 – 14:00	Poster Viewing with Authors and coffee (Group C) – Only for in-person participants
14:00 – 14:15	Time to change rooms
14:15 – 15:45	Concurrent Symposia S17-S19 S17 Integrating big data and functional genomics S18 Telomere-driven aging and disease S19 Lipids and diseases	Workshops W15-W19 W15 Episignatures: utility and challenges W16 Advancing Health Equity in Translational Genetics and Genomic Medicine W17 UCSC + Ensembl browsers W18 Setting up your gene therapy clinical site: dos and don’ts! W19 Social Media
14:15 – 15:45	Corporate Sessions
15:45 – 16:00	Fruit Break – Free Poster Viewing – Exhibition
16:00 – 17:00	Poster Viewing with Authors and coffee (Group D) – Only for in-person participants
17:00 – 17:15	Time to change rooms
17:15 – 18:45	Concurrent Symposia S20-S24 S20 Implementation of automated reanalysis of genomic data S21 Insights from consanguineous populations – Genomes of South Asia S22 Rewriting cancer treatment and resistance S23 Rhopathies: Role of Rho GTPases and related genes beyond cancer S24 Biomolecular Condensates	Educational Session E07-E08 E07 Bridging Genetics and Epigenetics in Human Disease E08 Mendelian Randomization – concepts and misconceptions
20:00	ESHG Networking Evening

Tuesday, May 27, 2025

09:00 – 10:30	Concurrent Symposia S25-S29 S25 Fetal phenotyping S26 Ultrapersonalised medicine S27 Chromosome X S28 More on penetrance and expressivity S29 First Nations Genomic Research	Educational Sessions E09 E09 Solving rare disease: 1 for all, all for 1
10:30 – 11:00	Coffee Break
11:00 – 12:30	Concurrent Sessions C31-C36
12:30 – 13:30	Lunch Break
13:30 – 14:15	PL4 Mendel Lecture
14:15 – 15:00	PL5 ESHG Award Lecture
15:00 – 16:00	PL6 Awards Session EJHG Citation Awards ESHG Early Career Awards Dian Donnai and Jill Clayton-Smith Award European DNA Day Contest Closing Address

Programme and speakers are subject to change.

Click on the session titles to access details.

Saturday, June 6, 2020

	Live Sessions	On-demand Sessions – Always Available
09:00 – 11:00	Education Sessions E01 E01 New Technologies	Education Sessions E02-E16 E02 Statistical Rigor and Reproducibility in Genetic Research E03 Pharmacogenomics in the Clinic E04 Hypermobility and the Ehlers Danlos Syndromes E05 Interpreting Variation Outside of Protein-coding Sequence E06 Brain Size Matters! E07 Genome Editing: Multiple Tools and their Applications E08 Does Genetic Counselling Work? E09 Updates on Mitochondrial Diagnostics E10 Therapy for Rare Disorders E11 Heritability Estimations E12 Artificial Intelligence in Biomedicine E13 Mainstreaming Mitochondrial Replacement Techniques? E14 Repeat Expansions: From Detection to Treatment E15 Variant Interpretation in Hereditary Cancer: Lessons learned from Big International Consortia E16 Revisiting Consanguinity in the Era of Improved Genomic Diagnosis
		Workshops Wxx-Wxx W01 NGS in the Clinic – Mistakes and Quality Assurance – To be confirmed W04 ESHG-Y – To be confirmed
11:00 – 11:15	Break
11:15 – 12:45	Concurrent Sessions C01 – C07 C01 From Carrier Screening to Infertility and Fetal Diagnostics C02 Intellectual Disability C03 Novel Bioinformatic and Machine-Learning Methods	Corporate Satellites
12:45 – 13:00	Break
13:00 – 14:30	Corporate Satellites
14:30 – 14:45	Break
14:45 – 16:15	PL1 Opening Plenary Session
14:30 – 14:45	Break
16:30 – 18:00	PL2 What’s New? Highlight Session from submitted abstracts
18:00 – 18:15	Break
18:15 – 19:45	Concurrent Sessions C04 – C07 C04 Basic Research in Cancer C05 Elucidating the Function of Cardiac Genes C06 Sensory Disorders C07 Impact of Genomic Medicine on Public and Patients

Sunday, June 7, 2020

	Live Sessions	On-demand Sessions – Always Available
08:30 – 10:00	Concurrent Symposia S01 – S04 S01 What to Expect from Prenatal Diagnosis S02 Liquid Biopsy for early Detection of Cancer S03 Our Ancestry S04 Public and Patient Engagement	Education Sessions E02-E16 E02 Statistical Rigor and Reproducibility in Genetic Research E03 Pharmacogenomics in the Clinic E04 Hypermobility and the Ehlers Danlos Syndromes E05 Interpreting Variation Outside of Protein-coding Sequence E06 Brain Size Matters! E07 Genome Editing: Multiple Tools and their Applications E08 Does Genetic Counselling Work? E09 Updates on Mitochondrial Diagnostics E10 Therapy for Rare Disorders E11 Heritability Estimations E12 Artificial Intelligence in Biomedicine E13 Mainstreaming Mitochondrial Replacement Techniques? E14 Repeat Expansions: From Detection to Treatment E15 Variant Interpretation in Hereditary Cancer: Lessons learned from Big International Consortia E16 Revisiting Consanguinity in the Era of Improved Genomic Diagnosis
	Corporate Satellites
10:00 – 10:15	Break
10:15 – 11:45	Concurrent Sessions C08 – C12 C08 Impact of Diagnostics Improvements in Healthcare C09 Metabolic and Mitochondrial Disorders C10 Rare and Common Variants in Personalized Medicine C11 Multiple Malformation Syndromes I C12 Neuropsychiatry
11:45 – 12:00	Break
12:00 – 13:00	Corporate Satellites
13:00 – 13:45	Poster Viewing with Authors
14:15 – 15:45	Workshops Wxx – Wxx	Workshops W05 – W11 W05 Exome and Genome Variant Interpretation W06 Prenatal Diagnosis – To be confirmed W07 “Treatabolome”: A Treatment Awareness Project for Rare Diseases W08 European Reference Networks – What is in it for me? – To be confirmed W09 UCSC Genome Browser – To be confirmed W11 Pharmacogenomics in Practice – To be confirmed
14:45 – 15:15	Break
15:15 – 16:45	Concurrent Symposia S05 – S08 S05 Development and Disease at Single Cell Resolution S06 Making Sense out of Nonsense S07 Strategies and Applications in Translating GWAS to Function S07 Cardiovascular Genetics
16:45 – 17:00	Break
17:00 – 18:30	Concurrent Sessions C13-C16 C13 3D Genome Architecture C14 Internal Organs C15 Best Posters Session 1 C16 The Interplay of Law, Policy and Genomics
18:30 – 18:45	Break
18:45 – 20:15	Corporate Satellites

Saturday, June 6, 2020

08:00 – 10:00	Educational Session E01 New Technologies
10:00 – 10:30	Coffee Break – Poster Mounting – Exhibition
10:00 – 11:30	Corporate Satellites
10:30 – 12:00	Education Sessions E02-E04 E02 Statistical Rigor and Reproducibility in Genetic Research E03 Pharmacogenomics in the Clinic E04 Hypermobility and the Ehlers Danlos Syndromes	Workshops W01-W04 W01 NGS in the Clinic – Mistakes and Quality Assurance W02 Dysmorphology I W03 Molecular Newborn Screening vs. Newborn Testing W04 GenEthics
12:00 – 14:00	Lunch Break – Free Poster Viewing – Exhibition
12:15 – 13:45	Corporate Satellites
14:00 – 14:30	PL0 Welcoming Addresses
14:30 – 16:00	PL1 Opening Plenary Session
16:00 – 16:30	Fruit Break – Free Poster Viewing – Exhibition
16:30 – 18:00	PL2 What’s New? Highlight Session from submitted abstracts
18:00 – 18:30	Coffee Break – Free Poster Viewing – Exhibition
18:30 – 20:00	Concurrent Sessions C01 – C07 C01 From Carrier Screening to Infertility and Fetal Diagnostics C02 Intellectual Disability C03 Novel Bioinformatic and Machine-Learning Methods C04 Basic Research in Cancer C05 Elucidating the Function of Cardiac Genes C06 Sensory Disorders C07 Impact of Genomic Medicine on Public and Patients
20:00 – 22:00	Opening Networking Mixer

Sunday, June 7, 2020

08:30 – 10:00	Concurrent Symposia S01 – S05 S01 What to Expect from Prenatal Diagnosis S02 Multi-omics Approaches for Diagnosing Rare Diseases S03 Liquid Biopsy for early Detection of Cancer S04 Our Ancestry S05 Public and Patient Engagement	Educational Sessions E05-E06 E05 Interpreting Variation Outside of Protein-coding Sequence E06 Brain Size Matters!
08:30 – 10:00	Corporate Satellites
10:00 – 10:30	Coffee Break, Free Poster Viewing, Exhibition
10:30 – 12:00	Concurrent Sessions C08 – C15 C08 Impact of Diagnostics Improvements in Healthcare C09 Metabolic and Mitochondrial Disorders C10 Rare and Common Variants in Personalized Medicine C11 Multiple Malformation Syndromes I C12 Neuropsychiatry C13 3D Genome Architecture C14 Internal Organs C15 Best Posters 1
12:00 – 13:00	Concurrent Sessions C16 C16 The Interplay of Law, Policy and Genomics
12:00 – 13:00	Free Poster Viewing – Exhibition – Lunch
12:00 – 13:00	Corporate Satellites
13:00 – 14:00	Poster Viewing with Authors and coffee (Group A)
14:15 – 15:45	Workshops W05 – W11 W05 Exome and Genome Variant Interpretation W06 Prenatal Diagnosis W07 “Treatabolome”: A Treatment Awareness Project for Rare Diseases W08 Science Communication W09 UCSC Genome Browser W10 Community Genetics: Prospects for Curing Genetic Disorders W11 Pharmacogenomics in Practice
14:15 – 15:45	Corporate Satellites
15:45 – 16:00	Fruit Break – Free Poster Viewing – Exhibition
16:00 – 17:00	Poster Viewing with Authors and coffee (Group B)
17:15 – 18:45	Concurrent Symposia S06 – S09 S06 Development and Disease at Single Cell Resolution S07 Making Sense out of Nonsense S08 Strategies and Applications in Translating GWAS to Function S09 Cardiovascular Genetics	Educational Sessions E07-E09 E07 Genome Editing: Multiple Tools and their Applications E08 Does Genetic Counselling Work? E09 Updates on Mitochondria Diagnostics
19:00 – 20:00	ESHG Membership Meeting
19:00 – 20:30	Corporate Satellites

Monday, June 8, 2020

08:30 – 10:00	Concurrent Symposia S10- S14 S10 Beyond Mendelian Inheritance S11 Single Cell Cancer Genetics S12 Embryo and Placenta: Equal Partners S13 Where Science and Ethics Meet S14 Lysosomes in Health and Disease	Educational Sessions E10-E11 E10 Therapy for Rare Disorders E11 Heritability Estimations
08:30- 10:00	Corporate Satellites
10:00 – 10:30	Coffee Break, Free Poster Viewing, Exhibition
10:30 – 12:00	Concurrent Sessions C17 – C24 C17 New Therapeutic Approaches C18 Clinical Cancer Research C19 Multiple Malformation Syndromes II C20 Neurogenetics C21 Methods and Applications of Association Studies in Large Cohorts C22 Immunology and Hematology C23 Counselling, Communication and Deliberation C24 Best Posters 2
12:00 – 13:00	Free Poster Viewing – Exhibition – Lunch
12:00 – 13:00	Corporate Satellites
12:15 – 13:00	PL3 ELPAG Award Lecture
13:00 – 14:00	Poster Viewing with Authors and coffee (Group C)
14:15 – 15:45	Workshops W12 – W18 W12 Copy Number Variant Interpretation and Classification W13 Dysmorphology II W14 Exome Pipelines for Clinicians W15 Using the Ensembl VEP for analysing Variants in Rare and Common Disease W16 Genetic Counselling Models for Genomic Screening W17 European Reference Networks – What is in it for me? W18 Reproducible and transparent Analysis with Galaxy
14:15 – 15:45	Corporate Satellites
15:45 – 16:00	Fruit Break – Free Poster Viewing – Exhibition
16:00 – 17:00	Poster Viewing with Authors and coffee (Group D)
17:15 – 18:45	Concurrent Symposia S15 – S18 S15 ESHG-ASHG Building Bridges Session on Polygenic Risk Scores: Risky or Useful in the Clinic? S16 Detection of Structural Variation S17 Genetic Mechanisms in Haematological Neoplasias S18 Cornelia de Lange Syndrome and Cohesinopathies	Educational Sessions E12-E13 E12 Artificial Intelligence in Biomedicine E13 Mainstreaming Mitochondrial Replacement Techniques?
20:00	ESHG Networking Evening

Tuesday, June 9, 2020

09:00 – 10:30	Concurrent Symposia S19- S21 S19 Clonal Fitness of Somatic Mutations S20 Data-driven Genomic Care and its Implementation in the Clinic: A Paradigm Shift S21 Integrating Large-scale Functional Data into Genome-wide Association Studies	Educational Sessions E14-E16 E14 Repeat Expansions: From Detection to Treatment E15 Variant Interpretation in Hereditary Cancer: Lessons learned from Big International Consortia E15 Revisiting Consanguinity in the Era of Improved Genomic Diagnosis
11:00 – 12:30	Concurrent Sessions C25 – C31 C25 New Technologies and Approaches C26 Genome Variation and Architecture C27 Late Breaking Session C28 Neurodevelopment C29 Skin & Bones C30 Polygenic Risk Scores: From Tool to Practice C31 Shaping the Genomic Medicine Era
12:30 – 13:30	Lunch Break
13:30 – 14:30	PL4 Mendel Lecture
14:30 – 15:30	PL5 ESHG Award Lecture
15:30 – 16:15	PL6 Awards Session ESHG Education Award EJHG Citation Awards ESHG Awards for Best Presentations by Young Investigators Closing

Welcome to the European Human Genetics Conference
Hybrid Conference
Milan, Italy

May 24–27, 2025

Welcome to the European Human Genetics Conference
Hybrid Conference
Milan, Italy

May 24–27, 2025

Programme at a Glance

Pre-conference courses

Thursday, May 22, 2025

Friday, May 23, 2025

Conference programme

Saturday, May 24, 2025

Sunday, May 25, 2025

Monday, May 26, 2025

Tuesday, May 27, 2025

Click on the session titles to access details.

Saturday, June 6, 2020

Sunday, June 7, 2020

Saturday, June 6, 2020

Sunday, June 7, 2020

Monday, June 8, 2020

Tuesday, June 9, 2020

Welcome to the European Human Genetics Conference Hybrid Conference Milan, Italy

May 24–27, 2025

Programme at a Glance

Pre-conference courses

Thursday, May 22, 2025

Friday, May 23, 2025

Conference programme

Saturday, May 24, 2025

Sunday, May 25, 2025

Monday, May 26, 2025

Tuesday, May 27, 2025

Click on the session titles to access details.

Saturday, June 6, 2020

Sunday, June 7, 2020

Saturday, June 6, 2020

Sunday, June 7, 2020

Monday, June 8, 2020

Tuesday, June 9, 2020

Welcome to the European Human Genetics Conference
Hybrid Conference
Milan, Italy