Old name, new purpose: why we’ve gone back to RNID

Professor Jane Sowden

University College London

Professor Jane Sowden is Professor of Developmental Biology and Genetics at the UCL Great Ormond Street Institute of Child Health since 2011 and leads the Eye Development and Repair Research Group.

She is also Theme Lead of the Tissue Engineering and Regenerative Medicine Theme in the GOSH NIHR Biomedical Research Centre since 2022. 

More about Jane’s work

Jane studied Biochemistry at the University of Oxford and was awarded a PhD in Molecular Genetics at UCL, followed by postdoctoral training at the MRC Human Biochemical Genetics Unit. She then moved to the Institute of Ophthalmology at UCL to work on retinal development (development of the light-sensitive tissue in the eye). She subsequently moved to the Institute of Child Health to set up her own research group, focussing on eye conditions (inherited and otherwise) which cause childhood blindness.

Jane’s research has focussed on retinal development, genetic causes of eye defects and blindness, and developing stem cell therapies for retinal disease and repair. Her current research aims to improve genetic diagnosis and to develop novel stem cell and gene-based therapies for inherited retinal disease and conditions causing deafblindness. 

   

Advancing a gene therapy to prevent hearing loss in Norrie Disease

Read about Jane’s research project

Jane’s approaches to hearing research

What motivates you to try to improve the world of people who are deaf, have hearing loss, or who have tinnitus? 

Decades of research have led to a better understanding of the genetic causes of disease. I’m motivated by the wish to turn this knowledge into new treatments.  

Why have you chosen to work in hearing research? 

My lab at UCL Great Ormond Street Institute of Child Health studies the causes of childhood blindness and, for the last 5 years, deafblindness. We are working to develop stem cell and gene therapies to treat sight and hearing loss.

My lab’s work in hearing research was motivated by the Norrie Disease Foundation patient group and their need for a treatment to prevent hearing loss for children who are blind.

What do you hope your research will achieve? 

I hope this research will provide the foundation for a first gene therapy clinical trial for deafness in Norrie disease.

We believe we are on the brink of gene therapy becoming a treatment for many incurable diseases. We are at the beginning of applying this technology to deafness. I hope that gene therapy will in the future make a difference for people who have hearing loss.

What does RNID funding mean to you?

I am very grateful that the RNID/FPA have funded this multidisciplinary project which brings together the expertise of scientists and clinicians to work on a treatment for deafness. The award gives hope for those affected by Norrie disease. It enables the next step towards a clinical treatment for this disease.

In recent work we showed that delivery of NDP gene therapy in disease models can protect the inner ear and maintain the integrity of the tiny blood vessels, which are usually damaged in Norrie disease. In the new project we aim to develop a gene therapy that could be used to prevent the progressive hearing loss that people with Norrie disease experience.  

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