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Lab, Malaysia collaborate on dwarfism

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Los Alamos National Laboratory and the Centre for Chemical Biology at Universiti Sains Malaysia (CCB@USM) have launched a human genome project to study an individual with achondroplasia disorder, the most common form of dwarfism.
The project began with the dream of Malaysian graduate student Ling Sze Lee to answer the question “Why am I different?”
Using unique methods for high-throughput sequencing of ultra-low quantity chromosomal DNA and advanced sequence analysis, the team and Lee herself hope to identify previously unknown genomic markers for this disease to better understand its cause and to aid in the development of therapeutics and/or methods of prevention. The LANL Genome Science Group has already completed the sequencing of all 23 chromosomes of the study’s volunteer patient, a graduate student at the Universiti Sains Malaysia.
Achondroplasia is the most common cause of short-limbed dwarfism in humans, with the term achondroplasia meaning “without cartilage formation.” In fact, cartilage is formed, but the development of long bones fails to occur completely.


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