monogenic disorder


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monogenic disorder

A disorder caused by mutation of a single gene—i.e., based on simple mendelian genetics.
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In addition, while the genetic conditions detected through current newborn screening programs are monogenic disorders, newborn screening may evolve to include screening for some disorders that have a multifactorial mode of determination, although screening for selected multifactorially determined conditions is controversial at the present time.
Inherited dilated cardiomyopathies (DCM) are monogenic disorders caused by mutations in more than 30 genes, characterised by substantial phenotype heterogeneity.
Kirby Center include evaluations of the molecular genetics and pathogenetic mechanisms involved in optic nerve disease and inherited retinal and macular degenerations, cell biology studies of photoreceptor sensory cilia, delineation of mechanisms underlying the light responses of rods and cones, gene discovery of complex and monogenic disorders, development of methods with which to non-invasively monitor retinal and visual function in animal models and humans, and design of novel methods with which to image retinal cells.
Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes.
The monogenic disorders account for a small part of mortality and morbidity in the general population, which is mainly contributed by complex multifactorial disorders like diabetes, hypertension, coronary artery disease, etc.
X-linked diseases are monogenic disorders that are associated with defective genes on the X chromosome.