Local scientists create software to help doctors with rare disease diagnosis

SINGAPORE - A team of scientists at A*STAR's Genome Institute of Singapore (GIS) has created a new computer analysis software that cross-references a patient's symptoms and a person's genome sequence.

The software, Phen-Gen, is the first of its kind and was created with the intention of helping doctors diagnose diseases with greater ease.

Led by Dr Pauline Ng, the team had their results from the research published in Nature Methods earlier this month.

Phen-Gen has been proven to be more efficient and faster than current methods analysing genomes for the purpose of detecting faulty genes.

Rare diseases are known to be difficult to diagnose when using only symptoms to detect them. Dr Ng is currently working on incorporating the Phen-Gentechnique to better aid doctors in making more accurate diagnosis.

Besides rare diseases, Phen-Gen may also be used to diagnose patients with rare disorders. As such, Dr Ng's team is collaborating with doctors in local and international hospitals to make that happen.

The programme is also made available online and is helpful to anyone who prefers keeping their information private.

"There is little else more satisfying than the opportunity to help a sick patient, and through our research at GIS, we want others in the world to benefit as well," said first author Dr Asif Javed.

The Phen-Gen method is "timely" as it has become a necessary tool in hospitals for the accurate diagnosis of rare diseases, according to GIS executive director, Prof Ng Huck Hui.

For more information about Phen-Gen, visit phen-gen.org.

ssandrea@sph.com.sg