Fetal gene therapy prevents fatal neurodegenerative disease

A fatal neurodegenerative condition known as Gaucher disease can be prevented in mice following fetal gene therapy, finds a new study led by UCL, the KK Women's and Children's Hospital and National University Health System in Singapore. The study, published today , highlights the potential of fetal gene therapy to prevent and cure neonatal lethal neurodegenerative diseases in humans in utero. Gaucher disease  is an irreversible, inherited genetic metabolic disorder that results from not having enough glucocerebrosidase (GCase) - an enzyme that breaks down fatty chemicals called glucocerebrosides (GBA). Because the body cannot break down this chemical, the fat-laden Gaucher cells build up in the spleen, liver, bone marrow, and nervous system, causing bone disease, anaemia, fatigue, eye problems, seizures, and brain damage. Mutations in the GBA gene, which encodes the GCase enzyme that is deficient in Gaucher disease, are also a risk factor for Parkinson's disease. "Although the symptoms of some mild forms of Gaucher disease can be treated postnatally, more severe forms that cause early-onset, irreversible neurodegeneration are currently untreatable and are often fatal in infants. Being able to provide therapy at the earliest possible opportunity is vital in treating the brain which has a limited capacity to regenerate," explained senior author, Dr Ahad Rahim (UCL School of Pharmacy).