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Exceptional Cases of Genome Variation


A scientific meeting of the Human Genome Variation Society

Satellite meeting to the European Society of Human Genetics' annual meeting.

Anything which can go wrong, will go wrong. The human genome is no exception. In most cases identifying the cause of a genetic disease is straightforward, a clearly deleterious variant in the protein coding region of a known disease gene. However, there are always exceptions. Cases where the cause is not obvious and, since we are focused on finding the standard cause, we run the risk of not detecting it.

This year's meeting of the Human Genome Variation Society will focus on these "Exceptional cases", non-obvious causes of a genetic disease. By highlighting these cases we hope to trigger the participants to look deeper, re-analyse unsolved cases and maybe crack a few. Besides variants outside protein coding regions and unexpected inheritance patterns, the limitations of the current next-generation sequencing technology applied will be considered as well, easily missing certain variant types.

Scientific Program Committee

  • Anthony J. Brookes (Leicester, UK)
  • Johan T. den Dunnen (Leiden, Netherlands)
  • Marc Greenblatt (Burlington, VT, USA)

Abstracts - Close 5th April 2021

We invite abstracts to be submitted to the meeting within the theme of "Exceptional Cases".  You may be given the opportunity for an oral presentation, a rapid-fire presentation or a poster presentation depending on how close to the theme your abstract is. Abstracts within the theme will be given priority presentations. Please follow instructions on the Abstract page.

Keynote Speakers & Topics (to be confirmed)

A/Prof. Christel Depienne (Essen, Germany)

Familial Adult Myoclonic Epilepsy: a dominant disorder caused by identical AT-rich repeat expansions in different gene


A/Prof. Walther Parson (Univ. of Innsbruck, Austria)

Encrypted mitochondrial DNA: nuclear fossils dupe modern-day research


Prof. Olaf Riess (Univ. of Tubingen, Germany)

Unsolved diagnosis for rare disease patients: What is next?

A/Prof. Cornelis L. Harteveld (Hemoglobinopathies Center of Expertise, Leiden, Netherlands)

Small genes, large impact; An overview of exceptional cases identified in relation to alpha/beta globin diseases


A/Prof. Alexander Hoischen (Radbourg Univ. Medical Center, Netherlands)

Hidden structural variants: Long-reads needed


Other speakers TBA


*To be confirmed



Meet some of our invited speakers

Alexander Hoischen

Radbourd Univ. Medical Centre
Alexander Hoischen is affiliated with the department of Human Genetics and the department of... More

Depienne, Christel

A/Prof., Institut für Humangenetik, Universitätsklinikum Essen, Germany
Christel Depienne is Associate Professor at the University Hospital of Essen in Germany. She... More

Harteveld, Cornelis

Associate Professor, Hemoglobinopathies Center of Expertise Department LDGA S6-P, Clinical Genetics
  Dr. Hartevelds principle areas of research and diagnostics are phenotype-genotype... More

Jodie Whitehurst

The Language Scene
Jodie Whitehurst is the creator of The Language Scene, an organisation offering professional... More

Parson, Walther

A/Prof., Institute of Legal Medicine, Innsbruck Medical University, Austria
Walther Parson received his PhD in forensic molecular biology in 1999 and holds an associate... More

Riess, Olaf

Head of the Institute of Medical Genetics and Applied Genomics, University of Tubingen
Head of the Institute of Medical Genetics and Applied Genomics University of Tübingen,... More

To Be Announced

Where will the meeting be held?

Hotel To be Announced

United Kingdom


Friday 11th June 2021

Registration opens: 8.00am 

Meeting begins: 9.00am

Meeting Ends: 5.00pm

HGVS meeting 2019 image

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