Skip to Main Content - Click Enter


IDRM Research Facilitator Geoffrey Denwood coordinates Oxford’s efforts to tackle rare disease ‘Friedreich’s Ataxia’

Monday, 28 February is Rare Disease Day, bringing an opportunity to raise awareness of more than 7,000 known rare diseases that collectively affect 1 in 17 people. Most rare diseases are difficult to diagnose, have no cure and no approved treatments, presenting a significant, collective unmet need.

Striated muscle fibers of the heart myocardium stained with H&E. The cardiac myocytes have a central single or double nucleus, peripheral striated myofibrils and are joined by intercalated disks.
Cardiomyocytes, the muscle cells of the heart, progressively degenerate in Friedreich's Ataxia.
Image Credit: Jose Luis Calvo

Dr Geoffrey Denwood, Research Facilitator for the Oxford-Harrington Rare Disease Centre (OHC) directed by IDRM Neurology theme lead Professor Matthew Wood, is coordinating Oxford’s efforts to tackle the debilitating, degenerative neuromuscular rare disorder Friedreich’s Ataxia (FA).

FA is the most common type of inherited ataxia caused by a mutation in a gene called frataxin (FXN). It affects more than 20,000 people globally, usually from childhood, and causes progressive nervous system damage and movement problems. Dr Denwood is assessing Oxford’s capacity to mount a major effort in developing potential therapies for FA and is facilitating collaboration between clinicians, researchers and partner organisations to identify future research avenues.

Dr Denwood said:

“There are no therapies approved for the treatment of FA, therefore it is fundamental that we address the lack of disease modifying therapies to slow or prevent progression of the disease. There is an exciting pipeline of therapies currently under development, and because we understand the genetic cause of FA, which is in a single gene, the ability to cure FA via gene therapy or gene editing approaches feels like it may be a reality in the future. There remain significant gaps in our knowledge of the exact mechanisms by which the genetic alteration in FA results in manifestation of the disease, and research is ongoing in Oxford and across the globe to address these knowledge gaps to accelerate the development of a medicine to treat FA.”

Dr Geoffrey Denwood
Dr Geoffrey Denwood, Research Facilitator, Oxford Harington Rare Disease Centre

Dr Denwood is working closely with Professor Richard Wade-Martin’s Laboratory of Molecular Neurodegeneration (Department of Physiology, Anatomy and Genetics at Oxford University) as well as other world-leading FA organisations such as EndFA, the Friedreich’s Ataxia Research Alliance (FARA) and Ataxia UK to link Oxford-based activities to the existing global FA community. He is also involved in the newly established Friedreich’s Ataxia Alliance at Oxford (FA Alliance) that was formally launched on 3 February 2022 at St Cross College. The FA Alliance at Oxford will work collaboratively with the existing global FA research and therapeutic development community to accelerate delivery of therapies to treat FA.

The recent completion of the IDRM building marks an opportunity to potentially contribute regenerative approaches towards efforts to treat this degenerative disease.

Dr Denwood said:

“Two of the affected organ systems in FA are the central nervous system (brain and spinal cord) and the heart. The fact that Cardiology and Neurology are two of the three research themes at the IDRM paves the way for exciting future FA research projects in these areas.”

On this Rare Disease Day 2022, the OHC is hosting a public webinar “Advancing Novel Treatments for Neurological Rare Diseases” at 3pm GMT to be delivered by Professor Richard Wade-Martins and Harrington Discovery Institute Rare Disease Scholar Dr Haiyan Zhou from UCL.

All are invited to register here

Share this

Return to 'News & Events'