Dr Hannah Titheradge
Consultant in Clinical Genetics and Rare Disease Lead for Birmingham Women’s Hospital. Honorary Associate Professor at University of Birmingham (UoB).
Hannah has been a Consultant in Clinical Genetics at the Trust for six years. She previously worked as a Specialist Registrar in Clinical Genetics. She obtained her Doctor of Medicine degree from the University of Birmingham in 2020.
Her work focuses on increasing the diagnostic rate for patients with rare disorders through analysing existing data and using other advanced techniques. She is the Chief Investigator for Understanding Genomic of Human Disease.
The NEEDED Study (NanoporE Enhances Diagnosis in rarE Disease) has successfully shown an increased diagnostic yield for patient with rare disorders.
Hannah is the principal investigator for the EPIK-P2 phase 2 clinical trial utilising the drug alpelisib in patients with PIK3CA-related overgrowth syndrome. She is also a collaborator for the National Platform for the Development of Nucleic Acid Therapy for Rare Disease and LifeArc Centre for Acceleration of Rare Disease Trials.
Grants
BWC Charity Research award: December 2024-December 2026
Lifearc Pathfinder award: February 2023- August 2024
NIHR Research Scholarship: 2PA Research time funding: Sept 2021-Sept 2023
Recent publications
Pathogenic FLNA variants affecting the hinge region of filamin A are associated with male survival.