When Virtual seminar on Thursday 29 June 2023, 4pm – 4.50pm (AEST)
Where Online. Link will be provided in the invite.
Registration Registration is free and available here.
Join Australian Genomics’ DNA dialogue seminar, “Diagnostics of Rare Diseases: Beyond the Exome”, featuring Prof Olaf Reiß from the University of Tübingen in Germany.
The genetic causes of rare disease will not be found in about 50 per cent of patients when applying whole-exome sequencing diagnostics. Short and long-read genome sequencing, transcriptome sequencing, and epigenomics are the next steps to increase diagnostic sensitivity. Rare disease patients are also at risk of common diseases. Common disease prediction and prevention, therefore, will also play a major role in future disease and health management for rare disease patients.
About the speaker
Prof Olaf Reiß, MD, is Professor of Medical Genetics and Director of the Institute of Medical Genetics and Applied Genomics. He is also the founder and Acting Director of the Rare Disease Center Tübingen. He has more than 20 years experience in clinical genetics and research of genetic disorders. He currently is and has been coordinator of numerous international, European, and nationally-funded consortia such as EUROSCA, MEFOPA, TECHGENE, RATstream, Neuromics, and SOLVE-RD (together with Holm Graessner). He is PI and spokesperson for one of four DFG-funded NGS Competence Centers in Germany. Olaf serves on numerous advisory boards such as the rare disease working group of the 1 MG project, and advises the Ministry of Health on the implementation of genome diagnostics into the health care system (genomDE). From 2016 to 2017 he served as President of the European Society of Human Genetics (ESHG), and from June 2021 to March 2023 as President of the German Human Genetics Society. He has published more than 500 papers.
About DNA dialogue
With the wealth of genomic expertise internationally, this seminar series is a forum for members of the genomics community in Australia and beyond to learn of new developments in health genomics, and the overseas experience.
The topics are diverse, including data sharing, ethics, carrier screening, cancer genomics, genomics in emerging health systems, and more.
DNA dialogue seminars are held live via zoom on the last Thursday of each month. Registration is open to anyone working in, or impacted by, medical genomics. You can register for this event here and we encourage you to spread the word about this series.
Register for the entire 2023 series of DNA dialogue here.
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