Research Seminar: Alistair Pagnamenta and Julia Carrasco-Zanini-Sanchez

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 speakers will be:

Alistair Pagnamenta: Talk title TBD

Alistair studied Natural Sciences at Trinity College, Cambridge and went on to do a PhD on mitochondrial disease genetics at UCL, under the supervision of Shamima Rahman. From 2010-2024 he worked for the Oxford Biomedical Research Centre and was involved with a wide range of projects including an MRC funded study into the genetics of musculoskeletal disorders, where he has been lead analyst and a regular participant in monthly MDT meetings. In addition to his work on structural variants, he has been involved in several novel disease-gene discovery projects, primarily using data from 100kGP. In August 2024 he moved to the University of Exeter to work on R14 rapid genome sequencing data and projects related to newborn-screening.

Julia Carrasco-Zanini-Sanchez: 'Proteomics to identify disease-associated variants in rare disease patients undiagnosed after whole-genome sequencing: a proof-of-concept study in the 100,000 Genomes Project.'

Julia Carrasco-Zanini Sanchez is a postdoctoral researcher in computational genomics and multiomics at Queen Mary’s new Precision Healthcare University Research Institute (PHURI). Julia’s research focuses on how integration of multiomics with electronic health records can be applied to improve targeted screening, prediction and prognostic strategies for a diverse range of common and rare diseases. Julia did her undergraduate degree in Biomedical Sciences at the National Autonomous University in Mexico. She later received her PhD from the University of Cambridge, as part of the Wellcome Trust MRes + PhD programme in Metabolic and Cardiovascular disease. Her thesis focused on the use of broad-capture plasma proteomic technologies for the development of prediction models and for the identification of candidate causal targets.

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.