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Gene hope for metabolic disease

Monday October 13th, 2014

A gene therapy is showing promise as a treatment for a deadly metabolic liver disease, according to European researchers.

The researchers in Italy and the Czech Republic have been developing the treatment for Crigler-Najjar syndrome type 1 - which can causes lethal blood levels of bilirubin, the chemical which causes jaundice.

The project so far involved testing the therapy on laboratory mice.

These tests found that gene therapy cut levels of bilirubin by up to 80% initially - and kept levels down to half of what they would otherwise have been.

The researchers tested the application of gene therapy directly to the liver and also to the muscles.

Centres involved in the study included the University of Trieste, Italy, and Charles University in Prague, the Czech Republic.

The findings have been reported in the journal Human Gene Therapy and its editors say the work has implications for developing gene therapy more widely than Crigler-Najjar syndrome.

Journal editor Dr James Wilson said: "CNS1 is an outstanding model for in vivo gene therapy with easily measured and clinically relevant metabolic endpoints."

Life-Long Correction of Hyperbilirubinemia with a Neonatal Liver-Specific AAV-Mediated Gene Transfer in a Lethal Mouse Model of Crigler–Najjar Syndrome. Human Gene Therapy 22 September 2014, 25(9): 844-855; doi:10.1089/hum.2013.233.

Tags: Child Health | Europe | Genetics | Internal Medicine

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