Last updated on April 23, 2014 at 10:48 EDT

New Software Traces Origins of Genetic Disorders 20 Times More Accurately

October 23, 2013

GHENT, Belgium, October 23, 2013 /PRNewswire/ –

In a bioinformatics breakthrough, iMinds – STADIUS – KU Leuvenresearchershave
successfully applied advanced artificial intelligence to enable the automated analysis of
huge amounts of genetic data. Their new software suite, eXtasy, automatically generatesthe
most likely cause of a given genetic disorder. The breakthrough directly impacts the
treatment of millions of people with a hereditary disease.

At least 5% of the world population suffers from a rare, hereditary disease. Until
recently, the origins of these genetic disorders could be correctly identified in only
half of all cases. The lack of a conclusive diagnosis prolongs uncertainty for both the
patients and their families and marks the beginning of a long search, and expensive,
strenuous and even unnecessary treatments.

The introduction of new, cheaper technologies for deciphering the human genome held
the promise of a quicker and more accurate diagnosis of hereditary diseases. But this
proved challenging -particularly because of the huge amount and complexity of the data to
be processed.

The genomes of two healthy individuals show no less than four million differences or
mutations. Most of these mutations are harmless, but just one extra, malignant mutation
can be enough to cause a genetic anomaly. Existing analytical methods simply do not have
the means to reliably and quickly find this needle in the haystack.

The eXtasy software suite developed by iMinds – STADIUS – KU Leuven researchers
drastically changes this outlook. The program can trace the origins of genetic disorders
twenty times more accurately than existing analytical methods.

“eXtasy uses advanced artificial intelligence to combine whole sets of complex data
into a global score that reflects how important a certain mutation is for a certain
disease. This data can consist of networks of interacting proteins, but could also include
scientific publications or even scores that estimate how harmful a mutation is for the
protein in question,” explains Prof. Dr. Yves Moreau of iMinds – STADIUS – KU Leuven. “In
this way, we can detect disease-causing mutations twenty times more accurately, and
provide patients and their families with a much faster and more conclusive diagnosis. We
hope this can considerably improve and accelerate the treatment of millions of patients.”

“Searching for disease-causing mutations in a patient’s genome is really like
searching for one specific needle in an enormous pile of needles. eXtasy allows us to
formulate more accurate diagnoses, which in turn forms the basis of customized
treatments,” says Prof. Dr. Joris Vermeesch, who heads the Laboratory for Cytogenetics and
Genome Research [http://www.kuleuven.be/wieiswie/en/unit/50831105 ] at KU Leuven.

“Practical applications of genome sequencing technology are possible only if
variations can be interpreted accurately. eXtasy is a step in the right direction,” adds
Prof. Dr. Koen Devriendt, Head of the Department of Human Genetics at the University
Hospital of Leuven.

More information

        - This research was published in a recent edition of Nature Methods:


        - For more information on this subject, you can also attend TEDx Brussels
          [http://www.tedxbrussels.eu/yves-moreau ] (28 October) where Prof. Dr. Yves Moreau
          will deliver a talk entitled "Mining a Million Genomes".
        - The eXtasy research project leverages the expertise of the SymBioSys
          [http://www.kuleuven.be/symbiosys ] consortium, which fosters interdisciplinary
          collaboration between computational scientists and molecular biologists.

About iMinds

iMinds is an independent research institute, founded by the Flemish government in
2004, to stimulate digital innovation. iMinds conducts both strategic and applied
research, bringing together new technologies, societal challenges and questions from the
business world in interdisciplinary research projects. Next to its 800+ top researchers at
the Flemish universities (KU Leuven in this specific case), iMinds involves companies,
research partners, governments and other non-profit organizations. In addition, iMinds
guides starting entrepreneurs and companies in the realization of innovative, digital

Within iMinds’ ‘Future Health [http://www.kuleuven.be/samenwerking/iminds/fh ]‘
department, ESAT-STADIUS [http://www.esat.kuleuven.be/stadius/index.php ] (the Department
of Electrical Engineering – STADIUS Center of Dynamical Systems, Signal Processing and
Data Analytics) focuses on application domains such as industrial automation, digital
communications, the processing of biomedical signals and bioinformatics.

More information: http://www.iminds.be [http://www.iminds.be/en ]


Source: PR Newswire