genetic disorder

(redirected from Single-gene disorder)
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Related to Single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases
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  • noun

Synonyms for genetic disorder

References in periodicals archive ?
Clinical genetics has traditionally focused on single-gene disorders, such as polycystic kidney disease and cystic fibrosis.
Single-gene disorders, Relatively few genetic disorders (for example, Huntington's disease) are caused by a single abnormal dominant gene.
Even when a mutation for a single-gene disorder is present, diagnostics are often not perfectly predictive in some patients.
The analysis of fetal DNA in maternal serum or plasma has afforded diagnoses of fetal rhesus D status (12) and single-gene disorders (13), as well as the determination of fetal gender (14, 15).
Vistara, an NIPT that screens single-gene disorders and was launched in mid-2017, also will be showcased at the meeting.
They discuss reproductive development in males and females, fertilization and implantation, placental development, molecular aspects of normal pregnancy and delivery, abnormal pregnancy, prenatal molecular testing, and improving the care of premature and critically ill newborns with single-gene disorders.
Both of these invasive methods come with the risk of complications such as miscarriage, but Wilson and other single-gene disorders like it are difficult to diagnose using safer non-invasive methods--which analyze fetal DNA in the mother's blood--because the fetal gene of interest is present in the mother's blood at such low levels.
and her colleagues was presented at the American Society of Human Genetics meeting in Boston regarding trisomy 21 (Down syndrome), and it caught my attention despite the onslaught of NSG data presented related to single-gene disorders.
Lead author Professor Jeanne Lawrence, from the University of Massachusetts in Boston, said: "The last decade has seen great advances in efforts to correct single-gene disorders, beginning with cells in vitro (in the laboratory) and in several cases advancing to in vivo and clinical trials.
As a result, after a few early successes with atypical single-gene disorders such as Huntington's disease, progress has stalled.
Actually in most of the cases, genetic mechanisms including cytogenetic abnormalities, single-gene disorders, and undetermined etiology syndromes are the major causes of the disease.
In the last few years, next-generation sequencing (NGS) (5) has revolutionized the approaches by which we interrogate the genetic causes of rare single-gene disorders (1).
A new strategic plan from an arm of the National Institutes of Health envisions scientists being able to identify genetic bases of most single-gene disorders and gaining new insights into multi-gene disorders in the next decade.
It is incredibly important that single-gene disorders like Duchenne muscular dystrophy are not left behind in the rush to treat more widespread diseases like cancer or diabetes.
Over 200 conditions (Table 1) can be identified using PCR and FISH (Anonymous, 2004) and fall into three broad categories: chromosomal abnormalities, sex-linked disorders, and single-gene disorders.