Program
Start & End Times
Registration Friday 11th June 2021 at 08.00 - 09.00
Meeting Begins Friday 11th June at 09.00
Meeting Ends Friday 11th June at 17.00
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