Dr María Lachgar Ruiz

Dr María Lachgar Ruiz is a translational genomic scientist at Great Ormond Street Hospital for Children, within the North Thames Genomic Laboratory Hub. Her work focuses on rapid whole‑genome sequencing for infants with epilepsy (GeneSTEPS project) and advanced reanalysis strategies to improve diagnostic yield from short‑read WGS. She also explores complementary approaches such as RNA sequencing and long‑read technologies, and leads projects using National Genomic Research Library data across epilepsy, renal and metabolic disorders to uncover missed variants and refine genomic diagnostic workflows within the NHS.