HEALTH: Diagnosis of rare diseases in Cyprus now made possible

Rare genetic errors in patient genes and new mutations have been identified by scientists of the Cyprus Institute of Neurology and Genetics (CING) via innovative research of Next-generation DNA sequencing technology carried out over two years with financial support of RCB Bank.

Typical is the case of a Cypriot family which, 30 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.

“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.

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”.

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”.

Source: The Financial Mirror