Danish proteomics expertise leads to breakthrough in fatal gene disorder  

A research team including MDS Proteomics in Denmark has identified a gene causing Leigh Syndrome, French Canadian type (LSFC)

An international research team including MDS Proteomics in Odense, Denmark, has announced the identification of a gene that causes Leigh Syndrome, French Canadian type (LSFC), a fatal inherited disorder affecting 1 in 2000 live births each year. The discovery was made possible by combining MDS Proteomics’ technological innovations with genetics and genomics platforms.


The findings will have immediate clinical implications in regions of Canada where the disorder is common. Identification of the gene will enable carrier testing and improved diagnosis of a condition that up to now could only be confirmed after the child's birth. The news is reported on MDS Proteomics' website


Using mass spectrometry techniques, MDS Proteomics in Denmark was able to compile a comprehensive list of the huge number of proteins in the mitochondrion, a human cell component that was known to be closely implicated in the disorder. This work eventually led to identification of the suspect gene, which was subsequently confirmed by tests in patients and control subjects. The two gene mutations that cause the condition are now known.


“Genomic information is changing the way we tackle disease,” said the international team director Eric Lander at the Whitehead/MIT Center for Genome Research. “Over the next decade, scientists will increasingly be able to use powerful global tools and integrative strategies to accelerate disease-gene discovery, even for complex, common diseases like diabetes and heart disease.”

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