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
To be Announced m
zTo Be Announced
Where will the meeting be held?
Hotel To be Announced
Friday 11th June 2021
Registration opens: 8.00am
Meeting begins: 9.00am
Meeting Ends: 5.00pm
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