clinical genetics


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genetics

 [jĕ-net´iks]
the branch of biology dealing with the phenomena of heredity and the laws governing it.
biochemical genetics the study of the fundamental relationships between genes, protein, and metabolism. This involves the study of the cause of many specific heritable diseases. These include those resulting from the improper synthesis of hemoglobins and protein, such as sickle cell disease and thalassemia, both of which are hereditary anemias; some 200 inborn errors of metabolism, such as phenylketonuria and galactosemia, in which lack or alteration of a specific enzyme prohibits proper metabolism of carbohydrates, proteins, or fats and thus produces pathologic symptoms; and genetically determined variations in response to certain drugs, for example, isoniazid.
clinical genetics the study of the causes and inheritance of genetic disorders. In addition to the diseases mentioned under biochemical genetics, other aspects of clinical genetics include the study of chromosomal aberrations, such as those that cause mental retardation and down syndrome, and immunogenetics, or the genetic aspects of the immune response and the transmission of genetic factors from generation to generation.

Many pediatric hospital admissions involve genetic disorders. In obstetrics and neonatal medicine, prenatal diagnosis of genetic defects and improvement of pre- and perinatal conditions are a major concern. In adults, such diseases as breast cancer, coronary artery disease, hypertension, and diabetes mellitus have all been found to have predisposing genetic components that are relevant to identification of risk factors and early diagnosis.

clin·i·cal ge·net·ics

genetics applied to the diagnosis, prognosis, management, and prevention of genetic diseases. Compare: medical genetics.

clinical genetics

a branch of genetics that studies inherited disorders and investigates the possible factors that may influence the occurrence of pathological conditions. Also called medical genetics.

clin·i·cal ge·net·ics

(klin'i-kăl jĕ-net'iks)
Genetics applied to the diagnosis, prognosis, management, and prevention of genetic diseases.
Compare: medical genetics

genetics

the branch of biology dealing with the phenomena of heredity and the laws governing it. Expressed in other definitions, e.g. population genetics.

biochemical genetics
the science concerned with the chemical and physical nature of genes and the mechanism by which they control the development and maintenance of the organism.
The field of biochemical or molecular genetics is relatively new and is increasingly used to define the cause of many inherited diseases. These diseases usually result from defective protein synthesis, such as hemophilia A and immunodeficiency, and more than 200 so-called 'inborn errors' of metabolism identified thus far in animals, such as mannosidosis and galactosemia, in which lack or alteration of a specific enzyme prohibits proper metabolism of carbohydrates, proteins or fats and thus produces clinical signs.
clinical genetics
the study of the possible genetic factors influencing the occurrence of a pathological condition. In addition to the diseases mentioned under biochemical genetics, other aspects of clinical genetics include the study of chromosomal aberrations, such as those that cause testicular hypoplasia, and immunogenetics, or the genetic aspects of the immune response and the transmission of genetic factors from generation to generation.
molecular genetics
the study of the molecular structure of genes, involving DNA and RNA. See also deoxyribonucleic acid.
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In the past she has worked in the department of clinical genetics at Guy's and St Thomas' Foundation Trust in London, for the British Medical Association and for the Royal College of Physicians and the Institute of Neurology.
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American College of Medical Genetics 2007 Annual Clinical Genetics Meeting.
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