15 Facts About Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders.

Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, intellectual disabilities, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, and prenatal diagnosis.

Medical genetics is increasingly becoming relevant to many common diseases.

Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for morphologic, endocrine, cardiovascular, pulmonary, ophthalmologist, renal, psychiatric, and dermatologic conditions.

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The medical genetics community is increasingly involved with individuals who have undertaken elective genetic and genomic testing.

Clinical Medical genetics is the practice of clinical medicine with particular attention to hereditary disorders.

Metabolic Medical genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids.

Molecular Medical genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders.

When working alongside geneticists, genetic counselors normally specialize in pediatric Medical genetics which focuses on developmental abnormalities present in newborns, infants or children.

Medical genetics was a late developer, emerging largely after the close of World War II when the eugenics movement had fallen into disrepute.

Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

Medical genetics approaches include enhancement of residual enzyme activity, inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted.

Broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing.

One area in which population categories can be important considerations in Medical genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes.