In a paper, published in the journal Brain, geneticists and clinicians from the University of Oxford and University College London who led the international study said they had found that the novel disease gene VWA1 was linked to the progressive condition HMN. The research was supported in part by the NIHR Oxford Biomedical Research Centre.
HMN affects the nerves leading from the spinal cord to the muscles in the limbs, and causes muscle weakness and affects movement in the feet and legs. Onset of HMN often occurs in teenagers, although it can happen later in life
Ten participants from the 100,000 Genomes Project were identified as having VWA1 gene mutations – an unusually high number for a newly-described genetic condition. The 100,000 Genomes Project, was established to sequence 100,000 genomes from NHS patients affected by a rare disease or cancer, and has now paved the way for the UK’s new Genomic Medicine Service.