News

Friedreich’s Ataxia (FA) is a debilitating, life-shortening, degenerative multisystem rare disease for which there is currently no cure.

The Oxford-Harrington Rare Disease Centre (‘OHC’), a partnership between the University of Oxford, UK and Harrington Discovery Institute at University Hospitals, Cleveland, Ohio, dedicated to creating new medicines for rare diseases, recently announced funding to five researchers from the University of Oxford, each of whom receive £100,000 and specialist support to advance pioneering research projects exploring novel approaches to discover treatments for FA.

Professor Gromak’s project will develop innovative approaches to uncover the proteins which recognise expanded GAA repeats in the frataxin gene, which cause FA. This project will help to reveal how GAA repeats cause pathology and silence the frataxin gene, advancing the understanding of the precise molecular mechanisms of FA. This work is directly relevant to the identification of novel therapeutic targets and disease biomarkers, important for advancing FA drug discovery programmes.

The OHC coordinates the Friedreich’s Ataxia Alliance at Oxford (FA Alliance), which brings together researchers and clinicians from across the University of Oxford, supported by philanthropic funding, to develop new therapies or cures for FA. The alliance comprises established experts in FA research together with emerging investigators at the forefront of developing advanced therapeutic modalities and novel delivery systems to ensure appropriate targeting to relevant tissues, which is critical in FA.

The Gromak group studies the role of R-loops in health and disease. These unusual nucleic acid structures are surprisingly common in genomes, and are composed of an RNA/DNA hybrid and a single strand of DNA. Formed in all living organisms, they can occupy 10% of the human genome under physiological conditions. R-loops have emerged as important regulators in biological processes as diverse as transcription, DNA replication, generation of antibody diversity, epigenetics and DNA damage responses, and have been implicated in rare neurodegenerative diseases such as Aicardi-Goutières syndrome and Friedreich’s Ataxia.

Prof Gromak is an Associate Professor at the Dunn School and Trinity College, University of Oxford.