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Start & End Times

Registration Friday 5th June 2020 at 08.00 - 09.00

Meeting Begins Friday 5th June at 09.00

Meeting Ends Friday 5th June at 17.00

Keynote speakers & topics

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


A program will be announced soon...