Section: Application Domains

Health

Genetic and cancer disease diagnostic: Genetic diseases are caused by some particular mutations in the genomes that alter important cell processes. Similarly, cancer comes from changes in the DNA molecules that alter cell behavior, causing uncontrollable growth and malignancy. Pointing out genes with mutations helps in identifying the disease and in prescribing the right drug. Thus, DNA from individual patients is sequenced and the aim is to detect potential mutations that may be linked to the patient disease. Today the bioinformatics analysis is mainly based on the detection of SNPs (Single Nucleotide Polymorphism) from a set of predefined target genes. Tomorrow, due to the decreasing cost of the sequencing process, bioinformatics analysis will scan the complete genome and report all kinds of mutations, including complex mutations such as large insertions or deletions, that could be associated with cancers.

Neurodegenerative disorders: The biological processes that lead from abnormal protein accumulation to neuronal loss and cognitive dysfunction is not fully understood. In this context, neuroimaging biomarkers and statistical methods to study large datasets play a pivotal role to better understand the pathophysiology of neurodegenerative disorders. The discovery of new anatomical biomarkers could thus have a major impact on clinical trials by allowing inclusion of patients at a very early stage, at which treatments are the most likely to be effective. Correlations with genetic variables can determine subgroups of patients with common anatomical and genetic characteristics.