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Lecture No. 8

1. Theme: MGK. Modern methods of diagnostics, prophylaxis and treatment of hereditary diseases.

2. Purpose: To create at students of knowledge of modern methods of identification, the prevention and treatment of hereditary diseases of the person.

3. Theses of lectures:

3.1. Methods of diagnostics of hereditary diseases.

3.2. Methods of prophylaxis of hereditary diseases.

3.3. Methods of treatment of hereditary diseases.

For absolute majority of hereditary diseases of the person now it is not developed treatment methods. In this regard the importance gets the prevention of the birth of sick children.

There are the methods preventing clinical implications of hereditary diseases at already been born children with genetic pathology. Methods concern them screening – diagnostics: mass and selective.

Mass screening is based on inspection of live-born children in the first 4-5 days of life. Conditions of their carrying out are: 1) 100 % inspection of all newborn (live-born) children; 2) reliability of diagnostics of taped hereditary diseases; 3) existence of effective methods of their treatment.

The most effective methods of prophylaxis of hereditary diseases are methods of prenatal (antenatal) diagnostics. Distinguish non-invasive and invasive methods.

Among non-invasive methods simple, available and rather effective method of ultrasonic research (US) of pregnant women is widely applied.

Conditions of application of invasive methods are the authentic diagnosis of illness at the previous child and possibility of diagnostics of this disease at a fetal fetus.

The list of the illnesses which are giving in to treatment, is extremely limited. One of the few is the fenilketonuriya (dietetics).

Methods of gene therapy are in a stage of pilot studies.

4. Illustrative material: multimedia lecture No. 8.

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