Dr. Gulnara N. Seitova
Established in 1994. Headed by Aleksey Anatolievich Rudko, MD, PhD.
The first head physician of the Clinic (1987-2007) was Professor Ljudmila Pavlovna Nazarenko, Doctor of Medical Sciences, and Honored Physician of the Russian Federation.
The Genetic Clinic of the Institute is the unique medical institution beyond the Urals, which organizes the medical aid to patients with hereditary and congenital diseases for diagnostics, treatment, rehabilitation and prevention of hereditary pathology.
The genetic clinic includes consultative polyclinic department, department of laboratory diagnostics, and department of hereditary diseases (hospital).
Consultative Polyclinic Department
Established in 1987, serves about 8500 visits per year
The main function of the unit is prevention of hereditary diseases.
Groups of clinical and prenatal diagnostics assist the following medical aid:
- Medical genetic consultation with the purpose of prevention the birth of children with hereditary diseases;
- Prenatal diagnostics of the fetal’s health, which is a determinant of prevention of congenital malformations and hereditary diseases, reduction of children’s disability and death rate.
Methods of prenatal diagnostics:
- noninvasive methods: ultrasound diagnostics of fetal defects; combined ultrasound and biochemical screening of pregnant women in the first (РАРР-А) and second trimesters of pregnancy (HAFP and HCG).
- invasive methods: chorion biopsy, amniocentesis, placentocentesis, cordocentesis.
- Administration of the regional registry of families with monogenic, chromosomal, and congenital diseases.
- Clinical examination of families with monogenic and chromosomal diseases.
Every year from 7000 to 8700 patients or 3500-4000 families visit the polyclinic department. More than 800 families with hereditary pathology are observed.
Dr. M.O. Filippova and Prof. L.P. Nazarenko
Department of laboratory diagnostics
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Established in 1987. Headed by Svetlana Leonidovna Vovk, Higher Category specialist of the laboratory.
The Laboratory includes biochemical and cytogenetic groups, which allow diagnostics of hereditary diseases.
Biochemical group works in the following fields:
- preclinical diagnosticsof hereditary metabolic diseases;
-new-born screening for phenylketonuria, inborn hypothyroidism, adrenogenital syndrome, mucoviscidosis, and galactosemia;
- confirming diagnostics of hereditary diseases;
- biochemical control of patient treatment;
- selective biochemical screeningfor hereditary metabolic diseases includes testing for more than 100 nosology forms of different types of metabolism such as metabolism of connective tissue, aminoacid and carbohydrate metabolism, cooper metabolism, and other.
Cytogenetic group works in the following fields:
- karyotyping of various biological tissues;
- combined cytogenetics diagnostics of leucosis patients.
Department of Hereditary Diseases (Hospital)
Dr. Margarita N. Filimonova
Established in 1994. Specialized hospital for 50 beds.
Headed by Margarita Nikolaevna Filimonova, Neurologist Doctor of Higher Category, Honored Worker of Public Health Care of the Russian Federation.
The principle object of the department is to deliver the specialized diagnostic and medical aid to families having children with congenital malformations and hereditary diseases.
More than 7000 patients have been observed to date.
For the first time in Russia:
- Video-catalog of syndromes, hereditary diseases, and fetal developmental defects has been collected;
- Quality control system of cytogenetic analysis has been developed.
For the first time in Siberia:
The fetal biological material (amniocentesis, chorion and placenta biopsy, cordocentesis) have been investigated;
Prenatal correction of a congenital defect in a fetus (hydrothorax) has been done;
Standards of treatment of some hereditary diseases have been worked out;
Methods of genomic diagnostics for common disease have been implemented
Implemented in practice:
Method of molecular cytogenetics (use of monochromatic, dichromatic FISH to specify diagnosis);
Technique of combined cytogenetic examination of leucosis patients;
Technique of combined diagnostics of celiac disease in complex with the genetic testing for HLA class II alleles to disease development
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The staff of the genetic clinic has confirmed the efficiency of prenatal diagnostics: it has been shown that application of prenatal diagnostic methods has reduced the total frequency of four well-diagnosed congenital developmental defects (Down syndrome, multiple major congenital developmental defect, anencephaly, and myelocele) in new-born of Tomsk more than 1.5 times.
More than 15000 patients underwent antenatal diagnostics (invasive and noninvasive) for the last 5 years.
The genetic clinic has received two patents for inventions: “Method of treatment of fetal hypoxia” (June of 2002) and “Method of treatment of pyeloektasis and (or) ventriculomegaly in the prenatal period” (November of 2002)
The genetic clinic has served as a base for training specialists of medical genetic consultations from Ural, Siberian, Far East Federal Districts of Tyumen, Chelyabinsk, Orenburg, Omsk, Kyzyl, Kemerovo, Abakan, Krasnoyarsk, Chita, Vladivostok, Yakutsk as well as Uzbekistan (Tashkent), Kazakhstan - Astana, Alma-Ata in invasive methods of prenatal diagnostics.
The clinic stuff regularly gives lectures for physicians from different territories of Siberia and Far East.
Diagnostic systems of Diagen, Khrodis, Singen, Sin Diag, Possum, London Database, as well as the algorithm ''Hereditary Aminoacidopathies'' are used by staff for diagnostics.
The scientists take an active part in development and implementation of many regional and Russian purpose-oriented programs. Among them are the All-Russian Program “Right to Live” in support of development of hematology and organization of aid to chronic myeloleukemia patients, Regional Program “Children of Tomsk Region” for 2004-2006 and its Subprogram “Healthy Child,” Program “Neonatal Screening for Hereditary Diseases (mucoviscidosis, adrenogenital syndrome)” realizing in the network of the Russian National Health Project.