Chromatin organisation and human disease
Tuesday, 12 November 2024, 9.30am to 10.30am
Presented by Dr Robert Beagrie, Group Leader, Wellcome Centre for Human Genetics.
Chromatin organisation in the nucleus is a key mediator of transcriptional regulation. DNA regulatory elements that control transcription rates are carefully packaged with specific histone proteins, accumulate characteristic epigenetic modifications and are folded in ways that either facilitate or repress production of mature mRNA. The pathways that establish proper chromatin organisation are frequently affected by de novo mutations in patients with neurodevelopmental disorders (NDDs) or congenital heart defects (CHDs). I will summarise the current state of our understanding on the mechanisms at play in chromatin syndromes, technologies that will further that understanding and the potential for therapeutic intervention.
Rob studied biochemistry at the University of Cambridge before moving to Imperial College to work on DNA structure. During his doctoral studies, he developed ‘Genome Architecture Mapping’, a technique for mapping the folding of chromatin in the nucleus which has particular advantages for disease applications. He then moved to Oxford and worked on epigenetics regulation of gene expression in red blood cell progenitors as a postdoctoral researcher at the Weatherall Institute. He then moved to the Centre for Human Genetics to start the ‘Chromatin and Disease’ lab in 2022. His group apply a range of cutting-edge molecular biology techniques to understand the consequences of chromatin disruption in brain and heart development.