Filenews 28 February 2022
In Cyprus it is estimated that there are about 55,000 patients with a rare disease, according to the statistics presented during a press conference on the occasion of the World Rare Diseases Day, while as noted rare diseases are estimated to affect 3.5% – 5.9% of the European population, i.e. about 30 million patients.
During the press conference, which was granted by the Organization of State Health Services, the important work done in the Departments of Genetics and Cytogenetics of the Makarios Hospital was presented, with the Deputy Executive General Director of the Organization, Kypros Stavridis, stating that the CySEC "could not have been absent from the great effort for prevention, early diagnosis, but also treatment of rare diseases".
Presenting the profile of the Department of Genetics, Dr. Sofia Ourani mentioned that its establishment in 1994 was a milestone in the medical events of Cyprus, since the Department was created with the aim of proper diagnosis, medical care, diachronic monitoring and social care of patients with the support of both themselves and their families.
As he said, patients from all over Cyprus are referred to the Department for investigation of a possible genetic or hereditary disease, to note that the clinic operates with predetermined appointments, while a similar arrangement is made for emergencies or inpatients, who are hospitalized in Makarios Hospital or other hospitals.
Referring to statistics, Dr. Ourani said that rare diseases are estimated to affect 3.5% – 5.9% of the European population, i.e. about 30 million patients, to note that "proportionally in Cyprus it is estimated that there are about 55,000 patients with a rare disease".
For her part, the Senior Laboratory Officer of the Department of Cytogenetics, Dr. Stella Constantinou stressed that the Department "is a model and modern Laboratory in the field of diagnosis of chromosomal abnormalities".
"Since its establishment, it has been the only laboratory in the hospitals of the CySEC, which provides this type of examination, but also the only laboratory that offers karyotypic analysis in bone marrow samples in both the public and private sectors," he added.
According to Dr. Constantinou, the Department of Cytogenetics actively participates in the struggle for the diagnosis of rare diseases, offering specialized genetic tests, and stands by the efforts of health professionals, relatives and other competent authorities involved.
As he added in the Laboratory, analyses of classical karyotype are performed in order to identify chromosomal numerical abnormalities (in racial chromosomes: Klinefelter syndrome), as well as chromosomal structural abnormalities (micro-deficiencies and micro-conformations), while at the same time he mentioned "he pronounces gene tests for the diagnosis of specific genetic diseases".
According to Dr. Konstantinou "the Laboratory operates as the only referral centre for all blood samples in Cyprus for cytogenetic examination", explaining that this examination plays a very important role in the diagnosis, in determining the patient's prognosis, in monitoring the course of the examination and in evaluating the course of the patient's treatment.
"Apart from the classic Karyotype, the FISH method has been developed in our Laboratory. FISH is used to search for certain genes or changes in chromosomes of enormous diagnostic importance", dr. Constantinou.
Lighting of Makarios Hospital
Moreover, as mentioned, in the context of the World Rare Diseases Day, Makarios Hospital will be illuminated on the evening of Monday, February 28, in blue. The illumination will take place at 18:00.
CNA
