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Mental disability detection kits tap NUS technology

04 February 2013

The FastFraX kits are now available for the rapid detection of individuals with Fragile X Syndrome

Fragile X Syndrome (FXS), the most common form of inherited intellectual disability in boys and a possible underlying course of autism, will now be easier to detect with the rollout of two genetic kits based on NUS technology. FXS-associated disorders such as primary ovarian insufficiency - an ovarian dysfunction - and the neurodegenerative ataxia syndrome can also be identified with the products.

The Biofactory, a Singapore biomedical incubator, launched end of last year a new genetic test for detecting FXS. The FastFraX kits are targeted for the research community and laboratories worldwide.

A team from the NUS Department of Paediatrics led by Associate Professor Samuel Chong developed the new technology. Highly sensitive genetic probes for detecting the genetic mutation associated with FXS help to amplify regions of the affected gene for easier pinpointing. A subsequent Melting Curve Analysis of the amplified products distinguishes normal and diseased genes based on the different melting temperatures of the products, which relate to the expansion mutation associated with FXS.

The Biofactory worked with the NUS Enterprise's Industry Liaison Office to license the patented FXS technology and further developed the probes into various tests for FXS. Hospitals and research laboratories around the world have indicated interest in using the kits.

Mr Theodore Tan, The Biofactory's Managing Director, said the company immediately saw strong potential in this technology, both as a research-grade test as well as a diagnostic kit. "The FastFraX kits are superior to existing tests for FXS, as they are simpler, faster, more cost-effective and suitable for large-scale testing," he added. The firm is also developing a diagnostic kit scheduled for launch later this year.

The FastFraX FMR1 Identification and Differentiation kits are part of an innovative two-stage workflow, where the probes look for mutations in the Fragile X Mental Retardation 1 (FMR1) gene.

The first kit accurately identifies individuals with an abnormal copy of the FMR1 gene. This probe marketed as the FastFraX FMR1 Identification Kit is much more cost-effective than conventional tests and suitable for large-scale sample screening. One operator is able to screen several hundreds of samples within six hours, with just 50 nanogrammes of DNA from patients' blood.

The second kit, called the FastFraX FMR1 Differentiation Kit, analyses FXS-affected samples in greater detail and allows researchers to understand the severity of the genetic mutation. It differentiates between individuals with pre-mutation who may be carriers or have less severe symptoms, and individuals with the full mutation. The kit is user-friendly and produces results within two days, in contrast to an old diagnostic test that requires radioactivity and takes several days.

Mr Tan said the first part of the technology can be adapted to screen for other genetic diseases such as Huntington's disease, spinal muscular atrophy and myotonic dystrophy.

FXS, a genetic condition affecting both sexes, is caused by changes in part of the X chromosome. Parents who are carriers do not show signs and symptoms but can have children who may suffer from the disorder. Identifying these individuals alerts them to other FMR1-related health complications and allows more informed family planning. Although no cure currently exists for FXS, appropriate education, treatment programmes and medication can help to maximise the potential of each affected individual.