Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease (estimated prevalence is 1-5/10.000) with autosomal dominant inheritance that results in arteriovenous dilatations in skin, mucous membranes and internal organs, with propensity to hemorrhagic episodes.
The current diagnosis is clinical, but the diagnosis is often delayed due to the gradual onset of symptoms. Thus, having a clinical suspicion, the only confirmation test available is nowadays a mutational genetic analysis. However, the mutational study in the target genes fails to diagnose all patients (predominance of new mutations in affected individuals and difficulties in the detection of mutations in heterozygosis and in non-coding regions of DNA).
Given this problem, a research group from a major Spanish university has developed and patented a new method for the molecular diagnosis of this disease. It is based on the quantification of a set of microRNAs (miRNAs) transported by plasma exosomes, and in addition, this set allows diagnosing different variants of the disease. This new method has the advantage of providing new biomarkers that allow a rapid and reliable diagnosis of HHT, since the current methods are not valid for all the patients affected with HHT.
The invention thus provides the use of new diagnostic biomarkers, based on the quantification of 8 microRNAs carried by plasma exosomes. These miRNAs provide useful data for the diagnosis of HHT and allow to classify the disease in two subtypes: HHT1 and HHT2.
The University is looking for a company in order to reach a license agreement for this invention.