For the first time in Russia, a team of scientists and clinicians has conducted a large-scale genetic study of patients with pulmonary arterial hypertension. The team, which included researchers from the International Laboratory of Bioinformatics at the HSE Faculty of Computer Science, analysed the genomes of over a hundred patients and found that approximately one in ten carried pathogenic mutations in the BMPR2 gene, which is responsible for vascular growth. Three of these mutations were described for the first time. The study has been published in
Respiratory Research.
