Research Seminar: Gavin Arno and Adam Jackson

The Genomics England Research Seminar series is a season of events held to demonstrate the best research from Genomics England and our partners. They started in October 2018, and are monthly, free-to-attend talks presented by Research Network members on the latest research being performed using data from the National Genomic Research Library.

This month's seminar will focus on work done by the leads in our Genotype-Phenotype Association community. The speakers will be:

Adam Jackson: 'Analysis of R-loop forming regions identifies RNU2-2P and RNU5B-1 as neurodevelopmental disorder genes'

Adam Jackson is a trainee in clinical genetics with a research interest in unsolved neurodevelopmental disorders. He undertook his 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.

Gavin Arno: 'Investigating splice defects using RT-PCR nanopore sequencing from blood RNA: applications in retinal dystrophy genetics'

Gavin Arno is the Senior Scientist for the Genetics Department, Moorfields Eye Hospital, London and Associate Professor at the UCL Institute of Ophthalmology. His research interests are in the genomics of rare disease with a focus on novel genetic mechanisms of inherited eye disease. His ongoing research projects include rare disease gene discovery, variant elucidation and interpretation, functional investigation of variants/genotypes and disease mechanisms, non-coding variant analysis, and the application of long-read sequencing for genomics. Dr Arno was a member of the Genomic England pilot analyst team and leads the analysis of whole genome sequencing data for patients recruited at Moorfields Eye Hospital. He will be co-leading our Genotype-Phenotype Association community which focuses on studying large-scale genotype-phenotype studies to uncover rare variants linked to traits and diseases.

About the research seminars

The seminars will be held on the last Tuesday of each month at 2 to 3pm. These will be online sessions open to everyone and free to attend, we hope to have representation from across the Research Network, Discovery Forum and 100,000 Genomes Project participants as well as anyone else who would be interested in joining.

For updates on the seminars including announcements and speakers please follow the Genomics England twitter page. You can watch all previous Research Seminars on the Genomics England YouTube channel.

If you would like to present your research from the Genomics England Research Environment at one of these events please get in touch with the Research Management team at [email protected] and if you intend to publish on this research please include this so that we can publicise your paper on our Publications page.