Health in Code patents a method for the proper localization of Copy Number Variations (CNVs)

Health in Code patents a method for the proper localization of Copy Number Variations (CNVs)

Health in Code, a Spanish biotechnology company leader in genetic diagnostics and in the management of clinical information, has filed a patent application of a novel method for the characterization of copy number variants (CNVs) and other structural variants that may cause disease.

CNVs and structural variations are mutations that involve loss or gain of genetic material. These mutations are currently detected using techniques such as MLPA, CGH Arrays or SNP Arrays. However, the plain detection is not enough for a proper report of the mutation and makes it difficult to perform segregation studies in relatives.

Health in Code´s patent solves this problem with the development of a simple, economical and fast method that is able to identify the actual boundaries and, if it´s the case, the insertion points of CNVs and structural variants. This will be of great help for the application of genetics in medical practice.

The company, since its beginning in 2006, has been promoting a business model oriented towards medicine, based on the management of knowledge and technological innovation. Health in Code´s team includes more than 40 highly qualified professionals, (cardiologists, geneticists, biologists and bio-informaticians) working in innovative products and services of high added value. Its main expertise is in inherited cardiovascular diseases, and since 2015 has been offering new services related to other inherited diseases.

At present, Health in Code commercializes their portfolio in 15 countries.





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