single-gene disorder


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Related to single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases

single-gene disorder

Genetics A hereditary disorder caused by a mutant allele of a single gene–eg, cystic fibrosis, Duchenne muscular dystrophy, hemophilia, Huntington's disease, retinoblastoma, sickle cell disease; SGDs typically describe classic simple Mendelian patterns of inheritance–autosomal dominant, autosomal recessive, X-linked. See Gene, Mutation. Cf Polygenic disorder.
References in periodicals archive ?
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).
This is the potential first step toward developing targeted "chromosomal therapies," something that was not thought to be feasible given the difficulty surrounding gene therapy for single-gene disorders.
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.
Should these individuals be treated in the same way as those with single-gene disorders, despite the lack of certainty, and allowed to decide whether they want to know the results and its implications or left to live out their lives in ignorance, until the symptoms of this or another disease, which might have been prevented, manifest or not?
Since an early attempt to correct the adenosine deaminase deficiency form of severe combined immunodeficiency in humans in 1990, (3) there have been 95 approved gene transfer trials worldwide that have been geared toward treating single-gene disorders.
And while I share with Levy and Shannon a concern about "gene-hype," an example of where genes do have a powerful influence is single-gene disorders and immune reaction, against which we are able to select.
The genetic basis for single-gene disorders is somewhat easier to determine than that of complex ones such as autism.
He accepts that a small number of rare single-gene disorders such as Huntington's disease - which is hereditary and fatal - could result in an increase in costs.
What this tells us is that single-gene disorders manifest themselves with respect to the other genes in individual carriers," says Howard M.