The Molecular Genetic Diagnosis Centre at IDIBELL participates in the development of a genetic test that allows analyzing 285 genes associated with various neurological diseases, using a sophisticated mass sequencing technology. The test can reduce threefold the time to obtain the results and decreases in nearly a hundred times the price of the standard technique, which is based on analyzing the genes separately. The test, called Neuro GeneProfile, has been developed by the Valencian company Sistemas Genómicos and, together with the IDIBELL, it has had the collaboration of researchers from the Institute for Research in Health Sciences Germans Trias i Pujol (IGTP).

The test can be used to analyze the genes related to Parkinson’s disease or Charcot-Marie-Tooth syndrome, the most common sensorimotor neuropathy with hereditary origin in Spain. It also allows analyzing genes associated with other neurological disorders such as minority hereditary ataxias, autosomal recessive ataxias, hereditary spastic paraplegia, myasthenic syndromes, myopathies, muscular dystrophies and some medullar atrophies.

During the presentation of the test, which took place on October 1 at the W hotel in Barcelona, ​​the head of the Centre for Molecular Genetic Diagnosis at IDIBELL, Víctor Volpini, stressed that “the technique allows a high specificity.” Volpini has announced that the collaboration with Genomic Systems is “an ongoing relationship” and that in the future there will be “new developments”.

The IDIBELL Molecular Genetic Diagnosis Centre is pioneer in Spain for the studies in molecular clinical genetics. Since 1990, it operates with clinical and research objectives.