Speaker: Dr Adam Jackson
Title: Uncovering the Hidden Genome: New Insights into Neurodevelopmental Disorders
Collaborative Seminar with Advances in BioSciences @ The Michael Smith Building
Abstract: The majority of the human genome does not code for proteins, however, much of it is transcribed. Identifying which non-coding regions are transcribed can be challenging with standard RNA sequencing techniques and interpreting variants in these regions is also complex. Our work, integrating large-scale sequencing data with maps of DNA secondary structure has highlighted a group of non-coding regions that produce small nuclear RNAs (snRNAs) as critical in neurodevelopment. Surprisingly, variants in these non-coding regions, which comprise less than 500bp of sequence, represent one of the largest groups of neurodevelopmental disorders currently known.
Bio: Dr Adam Jackson is a trainee in clinical genetics with a research interest in unsolved neurodevelopmental disorders. He undertook his primary medical training and PhD in Manchester, which focussed on reanalysis of genomic data from rare disease cohorts including the Deciphering Developmental Disorders study, the 100 000 Genomes Project and Solve-RD. He is now an Academic Clinical Fellow at the University of Manchester where he co-leads an undiagnosed clinic with Professor Siddharth Banka and continues to implement novel analytical techniques for both family-based and cohort-based reanalysis. Recently, these approaches have led to the discovery of highly prevalent neurodevelopmental disorders caused by variants in non-coding small nuclear RNAs.
