Monday, May 14, 2012

New discovery lends insights into common ailments

SINGAPORE: Scientists from Singapore's Institute of Medical Biology (IMB) have made a discovery that promises to lend new insights into common ailments such as heart disease, osteoporosis, blood disorders and possibly sterility.

They worked with doctors and scientists in Jordan, Turkey, Switzerland and the United States of America.

The international team is led by scientists at IMB, which is under Singapore's Agency for Science, Technology and Research (A*STAR).



The research centres around Hamamy syndrome, a rare genetic disorder which is marked by abnormal facial features and defects in the heart, bone, blood and reproductive cells.

Its exact cause was unknown until now.

The scientists have identified the genetic cause of the birth defect.

They pinpointed the genetic mistake to be a mutation in a single gene called IRX5.

This is the first time that a mutation in IRX5 (and the family of IRX genes) has ever been discovered in man.

IRX5 is part of a family of transcription factors that is highly conserved in all animals.

This means that the gene is present not only in humans but also in mice, fish, frogs, flies and even worms.

Using a frog model, the scientists demonstrated that IRX5 orchestrates cell movements in the developing foetus.

Dr Bruno Reversade, senior principle investigator at IMB, said: "We believe that this discovery could open up new therapeutic solutions to common diseases like osteoporosis, heart disease, anaemia which affect millions of people worldwide. The findings also provide a framework for understanding fascinating evolutionary questions, such as why humans of different ethnicities have distinct facial features and how these are embedded in our genome."

Professor Birgitte Lane, executive director of IMB, said: "Understanding how various pathways in the human body function is the foundation for developing new therapeutic targets. This is an important piece of research that I believe will be of great interest to many scientists and clinicians around the world because of the clinical and genetic insights it brings to a large range of diseases."

View the original article here

Source From Channel News Asia

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