New genetic causes of ‘rare’ diseases, including pulmonary arterial hypertension, have been discovered by technology reading whole genomes in pioneering research that we part-funded.
The entire genomes of almost 10,000 NHS patients with rare diseases were sequenced and searched for genetic causes of their conditions as part of the 100,000 Genomes Project. Many new genetic variants that cause rare diseases were found, and many new genetic diseases were identified.
Pulmonary arterial hypertension (PAH) – high blood pressure in the blood vessels of the lungs which can lead to heart failure – was one of the diseases that researchers discovered new genetic changes for. In this study they have more than doubled the number of genes that were already known to cause PAH.