Human Genome Variation Society, Berlin, Germany
5th June 2020
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.
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Invited Speakers:
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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) WGS of mtDNA (title TBA) Prof. Olaf Riess (Univ. of Tubingen, Germany) An overview of the next steps after WGS from the Solve-RD Project Other speakers TBA
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