One of the most difficult challenges that face specialists in pediatrics is the diagnosis of patients presenting with signs and symptoms suggestive phenotypic an underlying genetic cause, but for which the etiology remains elusive despite costly and often lengthy investigations etiological.
In recent years, there has been an exponential growth in the knowledge of the genetic basis of disease. Almost 30 new genes associated with diseases are included per month in the OMIM database. This exponential growth of knowledge is now one of the biggest challenges for health systems and physicians to their patients.
Genomic medicine is being developed as part of a health system instead. It is crucial that the health system and the underlying economy begins to promote changes to incorporate more and better genomic medicine in clinical diagnosis because in a short period of time, sure to be part of routine medical practice. NeuroMeGen is part of the development of methods, tools and drugs that are bought regularly by advanced SNS.
The purpose of this tool based on mass sequencing technology, phenotypic analysis and pattern recognition is to facilitate the diagnosis of neurometabolic disorders, and prevent diagnostic worries so common in these diseases.