Oxford-Harrington Awards Nearly $900K in Friedreich’s Ataxia Grants

Rare Daily Staff

The Oxford-Harrington Rare Disease Centre’s FA Alliance Innovation Fund has awarded funding to five researchers from the University of Oxford, each of whom will receive $137,000 (£100,000) to advance pioneering research projects exploring novel approaches to discover treatments for the rare neurodegenerative disease Friedreich’s ataxia.

Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative multisystem rare disease. Onset typically occurs between 10 and 15 years of age. Individuals with FA have genetic mutations that result in a deficiency in the production of a protein called frataxin, causing progressive damage and cell death. This leads to the symptoms of FA, which include fatigue, vision and hearing loss, chest pain and heart conditions, slow or slurred speech, difficulty walking, and a loss of sensation and reflexes.

The Oxford-Harrington Rare Disease Centre coordinates the Friedreich’s Ataxia Alliance at Oxford, 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 FA Alliance Innovation Fund was established by the Oxford-Harrington Rare Disease Centre, in collaboration with a philanthropic foundation that provided up to $888,485 (£650,000) to advance cutting-edge therapeutic research at Oxford into FA. A total of $683,450 (£500,000) was awarded to support research into innovative therapeutic approaches for this devastating neurodegenerative disease.

The researchers leading the five projects at the University of Oxford are:

• Esther Becker, professor of translational neuroscience:
  Investigating FXN locus silencing in FRDA cerebellar organoids for therapeutic intervention

• Natalia Gromak, associate professor of pathology:
  Design of GAA-repeat proteomics to identify factors interacting with expanded repeats in Friedreich’s ataxia

• Andrea Németh, professor and consultant in neurogenetics:
  Fusion of therapeutic AI exercise gaming and motion capture to create a novel digital clinical outcome assessment in FA

• Carlo Rinaldi, professor of molecular and translational neuroscience and honorary consultant neurologist:
  Reversing FXN locus silencing via precision epigenetic therapy

• Christopher Toepfer, associate professor of cardiovascular science:
  Investigating epigenetic upregulation of FXN in FRDA cardiac organoids for treating FRDA cardiomyopathy

“These projects capture the creativity and ambition needed to change the future for people with Friedreich’s ataxia,” said Matthew Wood, director and chief scientific officer of the Oxford-Harrington Rare Disease Centre. “They also show how philanthropy is being deployed to transform early ideas into real progress for patients.”