Dr Stephanie Efthymiou

Postdoctoral Research Fellow, University College London

Dr Stephanie Efthymiou is a Research Fellow, passionate about research as well as raising awareness for rare diseases.

Stephanie Efthymiou is a Postdoctoral Research Fellow at the MRC-funded International Centre for Genomic Medicine in Neuromuscular diseases. She completed her PhD studies in the laboratory of Prof. Henry Houlden at UCL Queen Square Institute of Neurology, where she used genomic sequencing approaches to identify novel genetic etiologies in paediatric epilepsies and neuropathies.  Her current postdoctoral work in the laboratory of Prof. Mike Hanna involves creating a transcontinental genomics research partnership between the UK and lower and middle-income countries.  Her work involves harnessing genomics to improve the lives and health outcomes of children and adults with neuromuscular diseases (NMDs) across the globe.
Rare diseases are varied and life-threatening, yet most still remain undiagnosed and have no effective treatments.  The UCL Neurogenetics Lab focuses on these conditions to find diagnoses and treatments that could be crucial for scientific discovery.  The team work closely with international collaborators and patient advocacy groups to raise awareness, support the patient community, and identify families with similar conditions, enabling them to understand these diseases better.

Rare Research and Funding

Rare Disease researchers take part in a poster and pitch session to share their novel approaches to engaging patients in research. Then joined by a panel of research funders to explore the challenges, opportunities and novel approaches to funding this vital research

My three wishes for rare disease are:

  1. Leaving no one behind.
  2. Freely available genomic data.
  3. Cost-effective sequencing.