London Calling 2025 - Speakers
Speakers
Check out the line up of speakers at London Calling 2025.
Oxford Nanopore Technologies
Hannah Titheradge
- Job title
- Institution
- Birmingham Women's and Children's NHS Foundation Trust, UK
- Biography
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
- Recent publications
Burleigh, A. et al. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition. Front. Immunol. 14 (2023). DOI: https://doi.org/10.3389/fimmu.2023.1287258
Burleigh, A. et al. Genetic testing of Behçet's disease using next-generation sequencing to identify monogenic mimics and HLA-B*51. Rheumatology 628. (2023). DOI: https://doi.org/10.1093/rheumatology/kead628
McDermott, H. et al. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome — A case series from the West Midlands, UK. Eur. J. Med. Genet. 66(8) (2023). DOI: https://doi.org/10.1016/j.ejmg.2023.104788
Oxford Nanopore Technologies products are RUO. Products labelled/branded as Oxford Nanopore Diagnostics may be RUO or may be regulated as in-vitro diagnostic devices in some jurisdictions, please check individual product labelling. Oxford Nanopore Technologies present the materials of third parties within the user community acknowledging that those materials belong to and are the true statements and representations of those third parties. Oxford Nanopore Technologies make no endorsements of the materials shown and the statements made.
