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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Synonyms for genetic disorder

References in periodicals archive ?
While there have been many exciting advances in single-gene disorders and NGS technology, it is refreshing to see exciting research advance in other areas of genetics.
In summary, although NGS-based molecular diagnostics tests are still in their infancy, they have demonstrated excellent clinical utility for single-gene disorders.
Seaside Therapeutics is using a scientific approach in attempt to address this unmet need and changing the landscape of drug development by focusing on single-gene disorders with a high prevalence of autism, such as fragile X syndrome.
It will contain brief fact sheets on single-gene disorders as well as on pharmacogenetics and on genetic factors related to common diseases.
It would be more helpful to indicate that this technology is often referred to as "pre-implantation genetic diagnosis (PGD)" and to more clearly explain its utility--that it is often used to allow patients carrying chromosomal rearrangements and mutations associated with single-gene disorders to produce phenotypically normal children and to avoid the risk of transmitting the genetic abnormalities to their offspring; it has also been used to detect chromosomal abnormalities in embryos from women of advanced maternal age undergoing fertility treatment.
YES] Testing for disorders with genetic predisposition has never been accepted as a prenatal diagnostic technique, even though there is technically no difference between its use in detecting early-onset or late-onset genetic predispositions and its use in detecting chromosomal and single-gene disorders with onset at birth or early childhood.
Historically, genetic testing focused on single-gene disorders, where a disease is caused by a mutation in one gene.
PGD is effective in detecting chromosomal and single-gene disorders with more than 99 percent diagnostic accuracy.
Research in this issue shows that a new NIPT method known as cSMART could enable pregnant mothers to test their fetuses for single-gene disorders without risking miscarriage from standard invasive procedures such as amniocentesis.
The possibility to either transfer genes into human cells or modulate endogenous gene expression has led to novel and revolutionary therapeutic opportunities, especially for single-gene disorders such as hemoglobinopathies (6, 7).
Our focus on identifying the molecular pathophysiology of single-gene disorders associated with autism has provided insights for developing targeted therapeutics with the potential to correct or fundamentally alter the course of brain development and function," said Randall L.
Both of these invasive methods come with the risk of complications such as miscarriage, but Wilson's 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.
Finally, about 10 percent of autism cases can be ascribed to single-gene disorders (such as fragile X syndrome, tuberous sclerosis complex and Rett syndrome), or to chromosomal abnormalities--all of which affect brain development.
Human Genome Project, there are more than 6,000 known single-gene disorders, which in aggregate affect about 1 out of every 200 births.
Since its development in 1989, the number of diseases that can be diagnosed through PGD has doubled every year, with 150 to 200 distinct single-gene disorders now detectible.