Partnering opportunity

Novel chromosomal kit for detecting alterations of genetic material offered for licensing or technical cooperation agreement


A Spanish research team specialized in molecular mechanisms leading to mutation in the human genome, has developed a new method for detecting alterations in the Chromosome 22 that cause congenital heart disease (CHD). The method has proven to be faster than other procedures and detects typical as well as atypical deletions. Companies willing to implement the method through a license or a technical cooperation agreement for genetic tests are being sought.

Partner sought

Type: The team is looking for an industrial partner for developing and commercializing the technology. Field of activity: The partner sought could be a pharmaceutical company interested in genetic tests and diagnostics, ideally present at the prenatal diagnostic test market (for example, commercializes QF-PCR tests). Role of partner: - License agreement - to obtain patent rights for use and commercialization of the technology worldwide. - Technical Cooperation agreement - to provide technical cooperation for the development and professional use of the designed kit internationally.


A research team from a Spanish health institution working on molecular mechanisms related to mutations in the human genome, has developed a cheaper and faster method for detecting chromosomal deletions and duplications causing DiGeorge Syndrome and other disorders. One of the best known genetic causes of congenital heart disease as well as of the DiGeorge syndrome are deletions or duplications of the 22q11.2 region, a small segment of human chromosome 22. Therefore, finding out the presence of a deletion or duplication in such region is useful for diagnosing whether or not an individual is going to suffer from CHD or DiGeorge syndrome. On the other hand, the syndrome of 22q11.2 is not only the most common known genetic cause of CHD (2% of all of them), but also causes schizophrenia (1%) by increasing by 30 times the risk of suffering the disease, in addition, of being responsible for moderate intellectual disability and/or immunodeficiency. Furthermore, the 22q11.2 region of the genome is one of the most unstable regions of the genome producing an estimated de novo deletion or duplication in 1/2000-4000 births. These are mediated by Long Copy repeats that range up to 300 kb in size and that induce misalignment during meiosis and unequal recombination. Therefore, due to the relevance of duplications and deletions in the 22q11.2 region, there is a need to develop an alternative method to the already existing ones that allows fast, simple, and economical detection, either in the presence or in the absence of parental DNA samples, of all possible typical and atypical alterations. The kit developed by the research team complies with these requirements and is able to detect contamination by maternal DNA in prenatal tests, such as amniocentesis and chorion biopsy, unlike other techniques. Companies interested in genetic tests and diagnostics who wish to obtain the patent rights to commercialize the technology via license agreement, or provide technical cooperation for the development and use of the technology internationally.

Advantages and innovations

The method has been validated for the diagnosis of the congenital heart disease, a frequent prenatal and postnatal disorder that affects 1% of new-borns and an even higher percentage of unborn foetuses. It has proven to be faster than other procedures (results can be attained in 2-3 hours) and detects typical as well as atypical deletions, being a good complement to the Quantitative-fluorescent Polymerase Chain Reaction (QF-PCR) method and an alternative to the Fluorescence In situ Hybridization (FISH) technique. With this new procedure, the kit developed is cheaper and faster than other genetic techniques (reagent cost per test could be as low as 2-3 €). It uses very little DNA (10 ng) and can be performed starting from amniotic fluid or non-cultured chorion biopsy or any other tissue. Due to the use of microsatellites, it can safely rule out contamination of the maternal sample DNA in a prenatal test in the same reaction. In addition, in prenatal samples, it would be complementary to the QF-PCR (negative samples for trisomy 13, 18 or 21). Additionally, the method can be used with postnatal samples. The parental origin of the deletion/duplication is determined when the fetus is analyzed with the parents pinpointing immediately if there is a carrier parent. Thus, if deletion/duplication is not de novo, family studies to find other carrier members at risk of having affected progeny, can be quickly initiated. It is accompanied by a whole panel of additional markers, not included in the multiplex, if necessary. This would be applied when markers in the multiplex are not informative or to further characterize the deletion size.

Development stage

Prototype available for demonstration

Intellectual Property Rights (IPR)

Patent(s) applied for but not yet granted

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