The Regional Genetic Laboratory of Clinical Genetic Center, Institute of Pediatrics, Medical and Health Science Center, University of Debrecen has been carrying out genetic studies (cytogenetics and molecular genetic analyses) on patients with various genetic disorders (congenital abnormalities, metabolic disorders and malignant hematological disorders) for almost 40 years:. Presently well skilled pediatricians, clinical geneticists, biologist and molecular biologists provide the genetic health service of patients with rare genetic diseases in Eastern Hungary (Hajdú-Bihar, Szabolcs-Szatmár-Bereg and Borsod-Abaúj-Zemplén counties) but many patients come from other parts of the country and from neighbouring countries as well.
The new molecular genetic methods, expensive instruments and specially skilled experts demand a wide-scale collaboration with other national and international laboratories. Both the tests’ cost and shipping expenses are very high. To cover them financial support is required.
The genetic investigation of constitutional diseases starts with conventional chromosome analysis. During the routine diagnostic process this is followed by molecular cytogenetic method -fluorescence in situ hybridization (FISH) – in cases with genetic aberration of submicroscopic size and with normal karyotype to detect the cryptic aberration or to confirm the chromosome aberrations detected by karyotyping. In leukemias there are lots of genetic aberrations of diagnostic, prognostic or therapeutic significance. Detection of these chromosome alterations is crucial not only at the time of diagnosis but during the course of the disease to follow the therapeutic results. Most of them can be detected only by FISH. FISH method needs fluorescently labeled DNA probes and fluorescent microscope. The FISH probes the operational cost of the fluorescent microscope are extremely expensive and exceed the budget of our laboratory.
In addition to these methods the newly introduced array CGH is essentially needed in majority of cases to clarify the accurate genetic diagnosis. This time this is available only in foreign laboratories, the price of each test is between 500-1000 €.
The Clinical Genetic Center has to possess wide range of FISH probes for the diagnosis of rare chromosome disorders and different subtypes of leukemias. The regular price of a locus specific FISH probe is 400-500 €.
The foundation has been established to support the diagnostic work of the Clinical Genetic Center and through them support the patients suffering from these rare severe conditions. We respectfully ask 300,000 HUF as financial support of Sanofi Aventis to contribute the basic financial sources of the Clinical Genetic Center. The support will be expended according to purposes specified in the Memorandum of the “Genetic Health Provision of Tumorous and Handicapped Children” Foundation:
– to support the work at the outpatient clinic of the Clinical Genetic Center;
– to support the both the inpatient and outpatient medical care in the Clinical Genetic Center, the Pediatric Intsitute of the University of Debrecen;
– to support and improve the conditions in the regional genetic laboratory;
– to widen the instrumentation of the regional genetic laboratory;
– to improve the methods and equipment of a modern database;
– to improve the conditions of the scientific works and researches;
– to support the attendance of the members of the clinical genetic working group on trainings, courses, workshops, congresses);
– to support the presentation of the results of the working group-members researches on congresses – both in Hungary and abroad;
– to cover the costs of the running cost of the Clinical Genetic Center;
– to establish Patient Support Groups, to help the parent’s education.
Name: “Genetic Health Provision of Tumorous and Handicapped Children” Foundation
Address: Nagyerdei krt. 98., Debrecen, H-4032, Hungary
Tax number: 18996775-1-09
Bank account number: 10400339-50495153-57571016
Chairman of the Board of Trustees (entitled for sign): Prof. Éva Oláh. She is not representing other foundations or nonprofit organizations.
We would greatly appreciate your support.
Prof. Eva Olah, M.D., Ph.D., D.Sc.
Professor, Director of Clinical Genetic Center, Institute of Pediatrics, UD MHSC
Chairman of the Board of Trustees