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.

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
References in periodicals archive ?
In the search for its consolidation, the Brazilian Society of Clinical Genetics was founded in 1986; it was renamed the Brazilian Society of Medical Genetics (SBGM) in 2006 (26).
Monteagudo et al., "RE-024, a phosphopantothenate replacement therapy for PKAN: mechanism of action and efficacy in nonclinical models," in Proceedings of the ACMG Annual Clinical Genetics Meeting, Tampa, Fla, USA, March 2016, http://epostersonline.com/acmg2016/ node/2749.
(4) Department of Clinical Genetics, The Netherlands Cancer Institute, PO.
In addition, some journals specialise in mini-reviews or summaries, such as Clinical Genetics, the European Journal of Human Genetics, the New England Journal of Medicine and The Lancet.
More immediately, testing for this mutation may allow affected families to prevent leukemia in future generations," said study author Kenneth Offit, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering.
"We're in uncharted territory," said study author Kenneth Offit, MD, MPH, Chief of the Clinical Genetics Service at Memorial Sloan-Kettering.
Patients are being recruited from across the UK through the network of regional clinical genetics centres.
Endocrinology, pediatrics and neuroradiology, human and clinical genetics, and molecular bioscience researchers from Europe and Australia describe pituitary gland development and imaging, including the key factors for gland development causing pituitary gland-derived hormonal deficiencies and its impact on clinical phenotypes, and imaging approaches for diagnostic procedures and following the suggested genotype to find the appropriate diagnosis.
Dr Fatima Bastaki, consultant paediatrician in clinical genetics and metabolism at Latifa Hospital and head of the campaign's organising committee, said that the Centre for Arab Genomic Studies, a division of the Award for Medical Sciences, has catalogued 350 rare genetic disorders in Arab populations.
Dr Fatima Bastaki, Consultant Pediatrics and Clinical Genetics and head of the drive's organising committee, said the UAE will celebrate the day in conjunction with 40 countries around the world.
Genetics centers around the world offer all manner of prenatal diagnosis, cytogenetic laboratory services, molecular genetics, cancer genetics, clinical genetics, identity testing, and paternity testing services.
In a developing country, lack of supporting services such as clinical genetics means that surgeons often have to take the initiative in establishing such services in the management of breast cancer.

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