Sentences with phrase «gene disorders»

But observers differ over whether race is purely a cultural indicator or whether it signifies underlying biological variability that is relevant to many conditions in addition to single - gene disorders such as sickle cell anemia.

The new lines were derived from skin cells and in one case bone marrow biopsies from patients with complex genetic diseases such as childhood diabetes, as well as rare single - gene disorders including Huntington's disease.

NIPD for single gene disorders in a fetus is diagnostic, as it targets specific genetic changes present in a high risk family.

We report the development and first applications of an expanded exome sequencing - based test, coupled to a bioinformatics - driven prioritization algorithm, targeting gene disorders presenting with abnormal prenatal ultrasound findings.

To date, this appears to be the case in 15 infants with the single gene disorder SMA.

This approach, which relies on a few large families, can produce misleading results for a disorder such as ADHD which may involve several genes, unlike single - gene disorders such as cystic fibrosis or Huntington's disease.

Single gene PDG: Helping carriers of single gene disorders have a successful pregnancy and a healthy baby.

The success with CF suggests that they can model other single - gene disorders, such as α - 1 antitrypsin deficiency, which causes symptoms primarily in the lungs and liver.

If you took high school biology in the 1990s, you probably learned about the molecular basis for human genetic disorders such as cystic fibrosis (1989), Huntingtons (1993), Duchenne and Becker muscular dystrophy (1987), and a rapidly growing list of single - gene disorders, and the correspondingly rapid growth in clinical diagnostic technology based on DNA sequence information, enabling certain diagnosis, sometimes before the advent of overt symptoms.

For single - gene disorders, mutations have been discovered in hundreds of genes.

This proof - of - concept study of non-invasive droplet - digital PCR technology for the analysis of both paternally and maternally inherited fetal alleles demonstrates that NIPD for single - gene disorders is now becoming achievable.

You could probably take a guess at what a single - gene disorder is just by its name.

Cystic fibrosis, a disease affecting the mucus glands, is just one example of a single - gene disorder.

In single - gene disorders, a mutation occurs to one gene.

This idea is intuitive: in theory, large - effect variants would be kept at low frequency by natural selection, a pattern that's well established for mutations that cause rare single - gene disorders.

A «single gene disorder» is the result mutation (s) in a single gene, whereas multigenic disorders are caused by abnormalities in several genes.

Single gene disorders are much easier to characterise, investigate and develop diagnostic tests for.