• Queen Mary University of London
  • Barts Health NHS
  • Bradford NHS
  • Manchester Uni

S00005: Recall of an individual with HAO1 knockout.

S00005: Recall of an individual with HAO1 knockout.

with Alnylam Pharmaceuticals.

This study is now published.


Primary hyperoxaluria type 1 (PH1) is an inherited diseases of the liver, where kidney and bladder stones are caused by a buildup of a molecule called oxalate, which is produced from glycolate by the activity of a gene called HAO1. A potential treatment for PH1 might be to try and reduce the activity of the HAO1 gene. However, it wasn't known what the health effects of reducing HAO1 activity might be.

Sometimes variants in genes can cause a gene product to stop working or to not be produced at all. These are called gene knockouts. Researchers can study these gene knockouts to see how certain genes function, mostly by investigating the effect that the gene knockout has on a person’s health.

In this study researchers found a healthy Genes & Health participant who had a gene knockout in the HAO1 gene. This gene knockout mimiced PH1 treatments by reducing the activity of the HAO1 gene.

Researchers looked to see if this participant could help us find a therapeutic strategy for PH1. The participant had high levels of glycolate, but was healthly with no side effects detected. The study showed that supressing the HAO1 gene may be a safe long-term treatment for PH1.