HDRUK Oxford Monthly Community Meeting, Monday 2 December 2024, 2:30 pm – 3:30 pm

Speaker: Professor Stephan Sanders; Professor of Paediatric Neurogenetics, University of Oxford
Title: Therapeutic Genomics: bringing therapies to rare genetic disorders
Time: 14:30 – 15:30
Mode: Hybrid
 In-person Venue – Big Data Institute, Seminar room 0, University of Oxford
 To attend online – please register (link below)

Bio:
Dr. Sanders trained as a paediatric physician in the UK before undertaking a PhD and Postdoctoral studies in genomics and bioinformatics at Yale University. In 2014, he started his lab at the University of California, San Francisco (UCSF) before moving to Oxford as a Professor of Paediatric Neurogenetics in 2022. In 2019, he was awarded the Theodore Reich Young Investigator Award by the International Society of Psychiatric Genetics (ISPG) for his work on the genetics of neurodevelopmental disorders, especially Autism Spectrum Disorder (ASD). He has published over 100 peer-reviewed papers, which have been cited over 30,000 times (h-index 65, top 1% in the field based on Web of Science). Dr. Sanders is a leader of the Autism Sequence Consortium (ASC), a member of the ASC Executive Committee, and co-leads the ASC whole-genome sequencing (WGS) working group with Dr. Talkowski and Devlin. By studying the distribution of rare and de novo mutations, the ASC has identified hundreds of genetic risk loci meeting strict statistical criteria for association with ASD and neurodevelopmental delay (Fu et al. Nature Genetics 2022), including de novo loss-of-function mutations in the sodium channel gene SCN2A. Integrating bulk and single cell gene expression data, these analyses have highlighted the role of excitatory and inhibitory neurons in the developing cortex in ASD. The WGS working group aims to extend these approaches to understand the noncoding genome and developed the Category-Wide Association Study (CWAS) and de novo risk score (DNRS) methods for WGS analysis that implicated promoter regions in ASD (An et al. Science, 2018) and, in collaboration with Dr. Farh at Illumina, the SpliceAI tool for detecting cryptic splice sites (Jaganathan et al. Cell 2020). Working with Dr. Sestan at Yale, and as a member of the PsychENCODE consortium, his work has assessed the impact of rare and common variants on gene expression across development in the human brain (Werling et al. Cell Reports 2020).