14 DAY TRIAL // A team of German investigators has recently developed a new method for analyzing all genes in the human body simultaneously, in an innovation that could see the development of advanced diagnostics tools for genetic syndromes.
The group successfully used the new method on three children in a family suffering from the rare genetic disorder Mabry Syndrome. The analysis revealed a genetic mutation that underlay their condition.
Healthcare experts say that the vast majority of rare diseases they come across are inherited from parents to offspring. They add that, regardless of advancements in genetic studies, the actual causes of these diseases have yet to be pinpointed accurately.
Developing definitive diagnosis and innovative approaches to treating disorders is however only possible if the actual root cause of each of the disorders is identified, and this is where the new technique comes in.
The work was conducted by researchers at the Charite Universitatsmedizin – Berlin, who collaborated closely with colleagues from the Max Planck Institute (MPI) for Molecular Genetics.
Using the analysis method the experts jointly developed, the team learned that mutations in the PIGV gene were responsible for triggering symptoms of the Mabry Syndrome in the three children.
With this accomplishment, the German researchers proved that an advanced genome sequencing process can be used to successfully scan all genes, and identify variations or mutations that cause, or promote the development of, genetic disorders.
“It was like the proverbial search for a needle in a haystack. We fished out solely the 22,000 genes from the entire genome, decoded their sequence and examined them for mutations,” says Michal Ruth Schweiger, a member of the team that conducted the investigation
“Using new bioinformatic analyses, we were able to limit the number of mutation candidates to two – one of which is ultimately responsible for Mabry Syndrome,” adds the experts, who is based at MPI.
Details of the research appear in the August 29 issue of the esteemed scientific journal Nature Genetics.
The goal of producing individualized molecular medicine is now moving closer to reality, the German team believes. Further advancements made in perfecting the new technique could ensure that even the rarest of genetic disorders are better understood.
As far as the Mabry Syndrome goes, the researchers will now use the recently-acquired data to try and develop novel therapies aimed at reducing the severity of its symptoms.