clinical genetics


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Related to clinical genetics: genetic counseling, medical genetics, PubMed, Clinical geneticist

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.
References in periodicals archive ?
BioNanomatrix is developing breakthrough nanoscale whole genome imaging and analytic platforms for applications in clinical genetics, cancer diagnostics and other biomedical applications.
Clinical genetic testing laboratories have come under scrutiny in the US and Europe with increasing public awareness of genomic research.
Founded by Professor Ed Southern, Oxford Gene Technology (OGT) provides innovative clinical genetics and diagnostic solutions to advance molecular medicine.
Li recently led the clinical genetics laboratory at Novartis in Boston, and previously was in a similar role with Pfizer.
Sophia Genetics, a European leader in Data Driven Medicine, brings together expertise in clinical genetics, bioinformatics, machine learning, and genomic privacy.
Sir John Burn, professor of clinical genetics, said: "is has the potential to make a huge dierence to the way we treat patients in the future.
Sir John Burn, professor of clinical genetics at Newcastle University who is heading the project, said: "At the moment, hundreds of thousands of people are given warfarin and we don't target the dose effectively.
European and Australian oncologists, surgeons, epidemiologists, and other specialists also address the patient perspective, carcinogenesis, clinical genetics in management, pathology, radiotherapy, surgical interventions, adjuvant therapy, treatment of advanced disease, innovative treatment, and follow-up.
Prof Ravi Savarirayan of Victorian Clinical Genetics Services said that the researchers who studied the family found that all family members who were affected by osteoarthritis had the faulty gene TRPV4.
In the past 20 years of my career as a professor, only one Emirati has chosen clinical genetics as a profession," said Dr Lihadh Al Gazali, Professor in Clinical Genetics, Department of Paediatrics, Faculty of Medicine and Health Sciences at the UAE University, Al Ain.
The Molecular and Clinical Genetics Panel did not take any formal votes during a meeting this month, but discussed a variety of issues related to tests that are currently sold, almost without any regulation, to consumers over the Internet.
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