After Natural Sciences at Jesus College, Cambridge, Ana Lisa went to University College London Medical School. An elective in California, led to a Stanford University Dean’s Fellowship at the Department of Neurology for a year before core pediatric training at the Whittington and Great Ormond Street Hospitals, then specialty training in Genetics at Cambridge University Hospital. An NIHR Academic Clinical Fellowship enabled research placements at the MRC Laboratory of Molecular Biology and Wellcome Sanger Institute. An honorary consultant in clinical genetics at Cambridge University Hospital and Clinical Lead for rare disease research at Genomics England, she represents Genomics England in national rare disease work, e.g. the England Rare Disease Framework working group, UK Rare Disease Research Landscape steering group and Rare Therapies Launchpad. Ana Lisa’s focus is on translating genomic research into healthcare and advancing therapies for rare disease.