The Biofactory, a biomedical incubator based in Singapore, has launched a new genetic test at MEDICA 2012, the world's largest medical trade fair. Called FastFraX, this genetic test is able to effectively screen for Fragile X Syndrome (FXS), a genetic condition that is the most common form of inherited intellectual disability. This new test is available for the global research community and The Biofactory is proactively reaching out to genetic laboratories and research organisations across Europe. The underlying technology for FastFraX was developed by researchers from the National University of Singapore (NUS).
A team led by Associate Professor Samuel Chong, from the Department of Paediatrics of the NUS Yong Loo Lin School of Medicine, developed highly-sensitive genetic probes for detecting the genetic mutation associated with FXS. The probes are used to amplify regions of the affected gene. Subsequent Melting Curve Analysis of amplified products offers a simple first line test for FXS. Normal and diseased genes are differentiated based on the different melting temperatures of the products, which relate to the expansion mutation associated with FXS. These probes are being developed further by The Biofactory into various tests for FXS. The NUS Department of Paediatrics is a leader in research into childhood diseases. It seeks to understand how such diseases develop, testing new diagnostic and treatment modalities, and finding better solutions for patients. The Biofactory worked with the NUS Industry Liaison Office (a division of NUS Enterprise) to license this patented technology and is now commercialising and bringing it to market.
"At The Biofactory, we focus on developing ideas and innovations into commercialisable products. We immediately saw strong potential in this technology, both as a research-grade test, which we are launching today, as well as a diagnostic kit, which we are now developing and plan to launch in 2013. FastFraX is superior to existing tests for FXS, as it is simpler, faster, more cost-effective and suitable for large scale testing," said Mr Theodore Tan, Managing Director, The Biofactory.
FastFraX is an innovative yet simple two-part system. Researchers can use the probes to screen for expansion mutations in the Fragile X Mental Retardation 1 (FMR1) gene. In the first part of the test, FastFraX accurately identifies individuals with an abnormal copy of the FMR1 gene, distinguishing them from normal individuals. This genetic probe, which is marketed as the FastFraX™ FMR1 Identification Kit is much more cost-effective than conventional tests. It is also able to screen hundreds to thousands of samples within six hours, with just nanogram amounts of DNA from patients' blood and even bloodspots. This makes the FastFraX™ FMR1 Identification Kit appropriate for large-scale sample screening. There are currently no other tests for FXS that are as cost-effective for large-scale sample screening.
The second part of the FastFraX system analyses samples that are identified as FXS-affected by the rapid screen. This sizing test, marketed as the FastFraX™ FMR1 Sizing Kit, characterises the genetic abnormality in greater detail and allows researchers to understand the severity of the genetic mutation. It differentiates between individuals with pre-mutation, who may be only carriers or have less severe symptoms, and individuals with the full mutation. While the FastFraX™ FMR1 Sizing Kit is a comprehensive test for FMR1 mutations, it is also user-friendly and rapid with results emerging after 1-2 days (compared to an old diagnostic test that requires radioactivity and takes weeks).
Current diagnostic test for FXS are limited, as they leverage upon Southern blotting, a scientific technique that is time consuming, labour intensive and not suitable for large scale testing. It also typically takes several weeks to obtain the results. Due to these limitations, there is a strong need for more efficient testing procedures for FXS. Although there is no cure for FXS, appropriate education, treatment programmes and medication can help to maximise the potential of each affected individual.
Together the two-part FastFraX system is a robust and efficient test for FXS that can identify and analyse the fragile X mutation.