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Diagnósticos moleculares de hiperaldosteronismo familiar tipo II

Resumen

Tipo:
Oferta Tecnológica
Referencia:
TODE20180220001
Publicado:
23/02/2018
Caducidad:
24/02/2019
Resumen:
Una universidad alemana ha desarrollado un nuevo diagnóstico molecular de hiperaldosteronismo que facilita el tratamiento de personas con hipertensión debido al hiperaldosteronismo familiar tipo II. Los investigadores han identificado mutaciones del gen CNCL2 que codifica el canal de cloruro como nuevo gen de la hipertensión. El método permite un diagnóstico temprano y muestra la probabilidad de desarrollar hiperaldosteronismo si los padres tienen un defecto hereditario. Este análisis genético está listo para usar. La universidad busca compañías de diagnóstico con el fin de establecer acuerdos de licencia.

Details

Tittle:
Molecular diagnostics of familial hyperaldosteronism type II
Summary:
A German university developed a new molecular diagnostics of hyperaldosteronism. It facilitates better timely and adequate treatment of affected persons with high blood pressure due to familial hyperaldosteronism type II. The university is offering a license agreement to diagnostic companies.
Description:
More than a billion people worldwide suffer from high blood pressure, which is largely caused by lifestyle habits such as lack of physical exercise, obesity, diet, salt intake and alcohol consumption. Besides that genetic factors play an important role in hypertension. Hyperaldosteronism is supposed to be the most common reason for secondary hypertension accounting for 5 to 12 percent of patients with high blood pressure.

The current diagnostic methods for the detection of familial hyperaldosteronism often result in a belated diagnosis. Researchers of a German university have identified mutations in the chloride channel encoding gene CNCL2 as a new hypertension disease gene. Pedigrees of eight kindreds were analyzed by Sanger sequencing and mutations were identified as indicated in the figure. The molecular diagnosis of CLCN2 facilitates better timely and adequate treatment of affected persons with hyperaldosteronism, especially of patients suffering from hyperaldosteronism in childhood and adolescence, and furthermore applies to disease risk assessment. In addition, this technology may give rise to novel therapy options for hyperaldosteronism targeting the mutated chloride channel ClC-2.

This very specific genetic analysis does not need a further development and is ready to be used.

The university offers a license agreement to companies specialized in molecular or genetic diagnostics, who will use the technology in their processes.
Advantages and Innovations:
The current diagnostic methods for the detection of familial hyperaldosteronism often result in a belated diagnosis. The heart circulatory system is already damaged. This invention represents a first diagnostic option for patients with familial hyperaldosteronism type II. It allows an early diagnosis and shows the probability to develop hyperaldosteronism if parents have an inherited defect (similar to estimation of familial cancer risk). It provides a timely and adequate treatment and risk assessment in reproductive medicine.
Stage of Development:
Available for demonstration
IPs:
Patent(s) applied for but not yet granted
CommeR Statunts Regarding IPR Status:
A European patent application was filed.

Partner sought

Type and Role of Partner Sought:
The university is offering a license agreement to companies that are active in the field of genetic or molecular diagnostics, interested in applying the new technology, which is ready to use.

Client

Type and Size of Client:
University
Already Engaged in Trans-National Cooperation:
Si
Languages Spoken:
English
German

Keywords

Technology Keywords:
06002002 Biología celular y molecular
06001005 Diagnósticos, diagnosis
06001011 Enfermedades circulatorias y del corazón