The challenges and opportunities in rare disease

November 4, 2024 at 4:00 pm US EST

Four hundred million people world wide have a rare disease and yet still less than 5% of patients have approved therapies. What changes are need to drive change and progress in rare therapeutic development?

Dr. Harriet Holme MA Cantab MBBS MRCPCH(2009) PhD

After reading medicine at Cambridge University, Harriet worked in the NHS as a NIHR academic paediatrician in London for nearly a decade, ultimately specialising in paediatric oncology, where precision medicine is transformative. Harriet completed her PhD on cancer drivers and potential novel therapeutic targets in osteosarcoma at University College London and the Institute of Cancer Research, in Professor Alan Ashworth’s laboratory.

Harriet is a Drug Development Clinician at Weatherden, assisting biotechs with strategy, asset and indication selection, and clinical trial design. Through experience in Harriet’s career, she understands the route from bench to clinic for the development of novel therapies.

As a parent of a child with a rare disease, she was shocked by the lack of evidence-based treatments and the absence of clinical trials to improve outcomes. Determined to change this, she founded and Chairs PCD Research.

Harriet is passionate about improving the outcomes for people with rare diseases, in particular primary ciliary dyskinesia (PCD), and ensuring access to a molecular diagnosis for all, access to disease modifying therapeutics and evidence-based, risk stratified management.