Lesson from a dwarf

THE Centre for Chemical Biology at Universiti Sains Malaysia (CCB@USM) has done it again.

After three world’s first achievements, CCB@USM researchers announced the results of the human genome project with a special focus on achondroplasia last week.

This can be regarded as a double first for Malaysia because the scientists have also completely sequenced the human genome for the first time.

This initiative is even more special because the subject of the study was the researcher herself, a graduate student at CCB@USM — a dwarf, short-limbed and stunted in height, due to an abnormality in bone structure for mation.

Indeed, “achondroplasia” is Greek, meaning “without cartilage formation”.

The disorder exhibits a number of medical complications related to a change in the genome, located at one of its chromosomes, more specifically a single nucleotide mutation (abnormality) in the type 3 receptor for fibroblast growth factor (fgfr3) located in chromosome 4.

CCB@USM worked closely with the US Joint Genome Institute-Los Alamos National Laboratory to complete the sequencing of all 23 individual chromosomes.

The result of the initial sequence analysis of chromosome 4 indicated that the classical hypochondroplasia was absent and that the achondroplasia indicator gene, fgfr3, was not the only marker.

CCB@USM had to isolate and sequence the remaining 22 chromosomes to identify other possible markers.

By human genome sequencing involving all the genetic information stored in 23 pairs of chromosomes, the clues to understanding human biology, especially in diagnosing, treating and even preventing of a particular disease, can be expedited.

Sequencing the genome was an important step towards elucidating how genes interact, for example to direct the growth, development and maintenance of an organism, or the lack thereof in the case of dwarfism.

This was best illustrated from the researchers’ findings t h at there is now another biomarker in addition to the fgfr3 gene

This novel finding is important because, at present, there is no known treatment for the disorder, even though one cause of the mutation in the growth factor receptor has been elucidated.

To date, surgery to lengthen the legs and arms, if desired, is still considered controversial to “treat” the disorder.

The finding can offer opportunities for the development of new therapies and better diagnostic methodologies.

That such highly novel and productive work can be undertaken in the Malaysian scientific environment — producing rapid and reliable outcomes at a relatively lower cost — defies the notion that Malaysia is a laggard in undertaking g round breaking scientific work.

More importantly, it also challenges the notion that we need to build megainfrastructures before trying to populate them with the right talent.

This approach of form before substance can lead to the draining away of financial resources from the latter to the former, especially when resources are scarcer.

The practice of form before substance needs to be examined seriously.

Ultimately, it is a question of maintaining the consistency of cutting-edge work in the face of bureaucratic mindsets and rules which are the order of the day.

The choice is, once again, to challenge the status quo.

Malaysian science, like the case of dwarfism, can also have its own version of achondroplasia due to the abnormality of its proverbial DNA.

Malaysian science needs to change its ways if it is to meet Challenge 6 of Wawasan 2020 — establish a scientific and progressive society, which is innovative and forward-looking; one that is not only a consumer of technology but also a contributor to the scientific and technological civilisation of the future.

* The writer is the Vice-Chancellor of Universiti Sains Malaysia. He can be contacted at vc@usm.my