Studying inherited disabilities

Fragile X syndrome (FXS) is the leading cause of inherited intellectual disability in the world. FXS affects 1 in 4000 males and 1 in 8000 females. The FMR1 (Fragile X Mental Retardation type 1) gene responsible for FXS is located on the X chromosome, so males (who have a single X chromosome) are more commonly affected than females.

According to Fragile X New Zealand, the country’s support organisation for FXS, there are more than 1000 people in New Zealand affected by FXS. Symptoms are diverse and affect individuals to varying degrees. Approximately 95% of FXS individuals have an IQ below 70 (the threshold for intellectual disability).

A 2011 study showed that only 10% of affected males lived independently and less than 5% required no assistance in everyday life. In New Zealand, individuals with intellectual disability, such as FXS, have on average a three-fold higher yearly healthcare cost compared to unaffected people. Currently, there is no treatment for FXS that will either prevent or treat the neurodevelopment issues.

Professor Russell Snell and his team at the University of Auckland are hoping to develop a sheep model of FXS, and then utilise the model for preclinical drug testing. Their work has the potential to accelerate the progress of FXS research.

Professor Snell has received a grant from Cure Kids to assist with financing his team’s FXS work, which is already underway.