Method for diagnosing Hereditary Hemorrhagic Telangiectasia (HHT)

Summary of the technology

Hereditary Hemorrhagic Telangiectasia (HHT) is a rare and genetic disease in which a disorder in angiogenesis exists. A new method for the molecular diagnosis of this disease has been developed. 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.

University of Granada (OTRI)

Details of the Technology Offer

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 symptom. Thus, having a clinical suspicion, the confirmation test available is a mutational genetic analysis. However, the mutational study in the target genes described so far also 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, the present invention 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 us to classify the disease in two subtypes: HHT1 and HHT2.

Another object of this invention is a kit to assess the expression level of miRNAs through different molecular biology techniques.


  • Early diagnosis.The current diagnosis of HHT depends on the onset of the symptoms. This new method would allow an early diagnosis, providing a better quality of life for patients and a reduction of healthcare costs.
  • Diagnosis independent of genetic mutations.This approach solves the inconvenience of diagnosing a small percentage of patients who do not carry the mutations in the candidate target genes.
  • It allows us to classify the disease in two variants, HHT1 and HHT2.
  • Suitability of the biological sample analyzed:
    • The biological sample analyzed is easily accessible: liquid biopsy (blood extraction).
    • Plasma exosomes have a high bioavailability and are relatively easy to obtain.
  • Simple and efficient analysis of disease.
    • The fact that the present invention uses miRNAs (very short and well-defined RNAs) as diagnostic biomarkers has the advantage of allowing an easy and reliable detection; unlike the current genetic test, which requires the complete sequencing of several genes.
    • Furthermore, the present invention uses optimized probes for miRNAs, thus increasing the limit of detection and specificity.
  • The necessary equipment is common and accessible in regular laboratories.One of the possible ways to quantify the expression of miRNAs uses real-time PCR (qPCR). This technique is very popular nowadays and has evolved enormously, and its costs, consequently, have been significantly reduced, especially in the required instruments.

Current development status

Experimental technologies



Desired business relationship

Patent licensing

Technology development


Attachment CC: Herbert L. Fred, MD and Hendrik A. van Dijk [Attribution]

Intellectual property status

  • Patent already applied for
  • Patent application number :P201930342

Related Keywords

  • Biological Sciences
  • Medicine, Human Health
  • Diagnostics, Diagnosis
  • Biology / Biotechnology
  • Genome Research
  • Detection and Analysis methods
  • Analyses / Test Facilities and Methods
  • Medical/health
  • Medical Health related
  • Diagnostic
  • Diagnostic services
  • rare disease
  • biomarkers
  • liquid biopsy
  • hereditary hemorrhagic telangiectasi,
  • rendu-osler-weber syndrome
  • circulatory diseas
  • exosomes
  • microrna
  • hemorrhagic telangiectasia

About University of Granada (OTRI)

The mission of the Research Results Transfer Office (OTRI, for its initials in Spanish) of the University of Granada (UGR) is to identify and valorize R&D results for their commercialization by industry and entities worldwide.
The OTRI is integrated into the Vice-Rector’s Office for Research and Technology Transfer, which activities are aimed at:

• UGR researchers for the valorization of their knowledge in the socio-economic environment;
• Companies, by building strategic bonds with the university to improve their competitiveness;
• Entrepreneurs of the academic community for the setting up of spin-off companies.

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