Diagnosis of rare diseases in Cyprus 30 years later

Significant results from the Cyprus Institute of Neurology & Genetics’ research program using Next Generation Sequencing, funded by RCB Bank

Rare genetic errors in patient genes and new mutations have been identified by scientists of the Cyprus Institute of Neurology & Genetics (CING) as part of the innovative research program of the Next-generation DNA sequencing technology carried out over the last two years with the financial support of RCB Bank. Typical is the case of a Cypriot family which, thirty years later, has been diagnosed with a rare mutation in the SPG 11 gene, and now relatives can take preventive measures whilst waiting for treatment methods.

"The most important advantage of the program is that patients have now been diagnosed and can benefit from the best possible treatment," said CING Chief Executive Medical Director, Professor Leonidas Phylactou, announcing the results of the program.

"Next-generation Sequencing technology helps us read the entire DNA and identify potential errors, something that was not possible until recently. Our goal is to be able to find and identify the disease and the reasons that cause it, in order to develop databases, new protocols and tests for use in the clinical practice for the benefit of all patients”, he added. Diseases investigated under the program are: multiple malformation syndromes, neurological disorders, cardiomyopathies, aneurysms, early puberty, hereditary recurrent fevers and cancer.

The Minister of Health, Constantinos Ioannou, praised the research work of the Cyprus Institute of Neurology and Genetics, "which is recognized not only in Cyprus, but also internationally, a fact that makes us all proud". The Minister thanked RCB Bank for its noble gesture to sponsor the research program: "Your support is a great help for a research institute that has such a long and remarkable research record, and the choice to fund this specific program proves that RCB Bank, with its many years of experience, is in a position to recognize those programs which truly contribute to crucial areas such as those of the Health sector”.

In his address, the Executive Director of RCB, Sotos Zackheos, said that for the Bank “contribution to society is not just another corporate strategy but an integral part of its culture". He also expressed his gratitude for the optimal use of the sponsorship for the benefit of society. "We are delighted that such programs contribute to the improvement of human life and to the strengthening of the Institute in one of its primary roles as a Research and Innovation Center", Mr. Zackheos said.

Concluding, Mr. Zackheos noted that "for us at RCB Bank, it is both a pleasure and an obligation to contribute financially towards the completion of this pioneering project".