Dr. Hannah Titheradge is a Consultant in Clinical Genetics at the Birmingham Women’s and Children’s NHS Foundation Trust and Honorary Clinical Associate Professor at the University of Birmingham. She is the Rare Disease lead for the Birmingham Women’s Hospital. Her research focus includes increasing the diagnostic rate for patients with rare monogenic disorders through reanalysis of existing genomic data and utilising other modalities such as long-read nanopore sequencing and RNA-Seq. She has published papers in Cell, eLife, and Human Mutation.Italic