In Cyprus it is estimated that there are about 55 thousand patients with a rare disease, according to statistics presented during a press conference on the occasion of the World Rare Disease Day, while it was noted that rare diseases are estimated to affect 3.5% - 5.9% of the European population, i.e. about 30 million patients.
During the press conference, hosted by the State Health Services Organization, the important work being done in the Departments of Genetics and Cytogenetics at Makareio Hospital was presented, with the Deputy Executive Director General of the Agency, Cyprus Stavridis, stating that the OKYPY "could not be absent from the great effort for prevention, early diagnosis and treatment of rare diseases".
Presenting the profile of the Department of Genetics, Dr. Sophia Ourani, MD, said 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, long-term monitoring and social care of patients with the support of both themselves and their families.
As she said, patients from all over Cyprus are referred to the Department for the investigation of a possible genetic or hereditary disease, noting that the clinic operates with pre-arranged appointments, while similar arrangements are made for emergency cases or inpatients, who are hospitalized at Makarios Hospital or in other hospitals.
Referring to statistics, Dr. Urani said that rare diseases are estimated to affect 3.5% - 5.9% of the European population, i.e. about 30 million patients, noting 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 OKYPY that provides this type of tests, but also the only laboratory that offers karyotypic analysis of bone marrow samples in both the public and private sectors," she added.
According to Dr. Constantinou, the Department of Cytogenetics is actively involved in the fight for the diagnosis of rare diseases, offering specialized genetic tests, and stands by the efforts of health professionals, relatives and other relevant authorities involved.
He added that the Laboratory performs classical karyotype analyses to identify chromosomal numerical abnormalities (in tribal chromosomes: Klinefelter syndrome), but also chromosomal structural abnormalities (micro-deletions and micro-deletions), while at the same time "offering gene tests for the diagnosis of specific genetic diseases."
According to Dr. Konstantinou "the Laboratory operates as the only referral centre for all haematological samples in Cyprus for Cytogenetic testing", explaining that this test plays an important role in diagnosis, in determining the patient's prognosis, in monitoring the progress of the test and in evaluating the progress of the patient's treatment.
"In addition to the classical Karyotype, our Laboratory has developed the FISH method. FISH is used to search for certain genes or changes in chromosomes with enormous diagnostic significance," Dr. Constantinou emphasized.
Illumination of the Makarios Hospital
In addition, as mentioned, in the context of the World Rare Disease Day, the Makarios Hospital will be illuminated in blue on Monday evening, February 28. The illumination will take place at 18:00.
Source: CNA
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