single-gene disorders

single-gene disorders

genetic disorders caused by DNA mutation within a single gene; single-gene sex-linked disorders occur when an affected gene forms part of either X or Y chromosomes
References in periodicals archive ?
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.
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.
Where genetic prediction of disease propensity is making a real difference is in the single-gene disorders such as cystic fibrosis, Huntington's disease, and muscular dystrophy.
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.