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Hans Tómas Björnsson


Mendelian disorders of the Epigenetic Machinery: discovery to possible treatments

09 March 2023, 14:00-15:30 CET

The Mendelian disorders of the epigenetic machinery are caused by mutations in components of the epigenetic machinery, and commonly lead to growth dysregulation and intellectual disability. Although individually rare, together they explain a sizable fraction of genetic causes of intellectual disability and study of these may yield insights into both intellectual disability and role of epigenetic in heath and disease. Although many of these factors are enzymes, they are often haploinsufficient which is rare for enzymes in general. Our group has identified a co-expression network of these factors, which is heavily enriched for haploinsufficient genes. Our group has recently defined a novel such disorder called Pilarowski-Bjornsson syndrome. For one of these disorders, Kabuki syndrome, we have tested the hypothesis that manipulation of epigenetic marks can yield therapeutic effects in mouse models and one of these strategies (LSD1 inhibition) will be tested in a clinical trial in the near future.

Hans Tómas Björnsson is Professor of Translational Medicine and Pediatrics at the University of Iceland, Chief of the Department of Genetics and Molecular Biology, Landspitali and Associate Professor of Genetics and Pediatrics at the Johns Hopkins University, USA. He received his medical degree from the University of Iceland. Dr. Bjornsson then received a Ph.D. degree in human genetics from the predoctoral program in genetics at Johns Hopkins, followed by combined clinical training in pediatrics and clinical genetics at Johns Hopkins. Dr. Bjornsson joined the faculty at the McKusick-Nathans Institute of Genetic Medicine and the Department of Pediatrics in 2012, where he runs a clinic dedicated to patients with imprinting disorders and Mendelian disorders of the epigenetic machinery (Epigenetic and Chromatin Clinic). Dr. Bjornsson joined the Biomedical center at the University of Iceland in 2016. Dr. Bjornsson has received numerous awards for both clinical care and scientific work, including the Frank Coulson, Jr. Award for Clinical Excellence (2012), an NIH director’s Early Independence Award (2013), the Sir William Osler Young Investigator Award from the Interurban Clinical Club (2014) and the William K. Bowes Jr. Award in Medical Genetics (2014).