Genomics-Driven Biomarker Discovery at CHOP and Utility in Therapeutic Development and Patient Care
This talk will focus on genomic strategies applied in academia to identify subsets of patients who, based on their genetic make-up, are predicted to have a favorable response profile to drugs that modify specific pathways and gene networks. Examples will be given on attention deficit hyperactivity disorder and autism, where a subset of patients were identified with copy number deletion in the metabotropic glutamate receptor signaling pathway, where a drug candidate, already developed through phase III for a different indication was repurposed for these new indications. Another genetically stratified patient cohort with inflammatory bowel disease is also being studied for intervention at a novel site in the TNF alpha pathway observed through genetic associations where functionally active rare variants are being implicated in the disease pathogenesis with potential extension to other autoimmune diseases. A few rare disease examples will be discussed where new discoveries have led to repurposing opportunities based on state-of-the-art genomic approaches.
Date: 15 September 2017, 12:00
Venue: Wellcome Trust Centre for Human Genetics, Headington OX3 7BN
Venue Details: Rooms A&B
Speaker: Professor Hakon Hakonarson (The Children's Hospital of Philadelphia Research Institute, Leonard Madlyn Abramson Research Centre, Philadelphia)
Organising department: Wellcome Trust Centre for Human Genetics
Organiser: Isabel Schmidt (University of Oxford, Wellcome Centre for Human Genetics)
Part of: WHG High Profile Seminars
Topics:
Booking required?: Not required
Audience: Members of the University only
Editor: Isabel Schmidt