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Researchers find cause of rare, fatal disease that turns babies’ lips and skin blue

June 22, 2019 dna 0
Scientists used a gene editing method called CRISPR/Cas9 to generate mice that faithfully mimic a fatal respiratory disorder in newborn infants that turns their lips and skin blue. The new laboratory model allowed researchers to pinpoint the ailment’s cause and develop a potential and desperately needed nanoparticle-based treatment. Mostly untreatable, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACDMPV) usually strikes infants within a month of birth.
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First events in stem cells becoming specialized cells needed for organ development

June 22, 2019 dna 0
Cell biologists shed light on the very first step stem cells go through to turn into the specialized cells that make up organs. The findings implicate the ability of proteins to hang around in cells — their stability — as a major factor in controlling a stem cell’s state, and in the decision to remain a stem cell or transform into a specialized cell.
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Rare recessive mutations pry open new windows on autism

June 22, 2019 dna 0
Most genetic variants linked to autism are de novo mutations, which are not inherited and are relatively easy to find. A new study, in one of the largest cohorts to date, instead tracked rare recessive mutations in which a child inherits two ‘bad’ copies of a gene. The findings provides a likely explanation for up to 5 percent of all autism cases and offer new clues to autism’s biological causes.
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Industry perspectives on prenatal genetic testing.

June 21, 2019 dna 0
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Industry perspectives on prenatal genetic testing.

Semin Perinatol. 2018 08;42(5):314-317

Authors: Swanson A, Goldberg JD

Abstract
Until recent years, prenatal genetic tests have been almost exclusively developed and implemented by academic physicians and laboratories. In the last several years, industry has led the development of novel prenatal genetic tests, funded clinical trials and implemented these tests into clinical practice. That these efforts have been driven by industry has raised questions about diagnostics development regulations, consistency in reporting of results, and management of potential conflicts of interest. In this article, these topics are addressed from an industry perspective. While commercial laboratories may have the resources to develop and offer novel genetic tests, collaboration with healthcare providers is crucial for appropriate, effective, and efficient utilization of such tests.

PMID: 30241950 [PubMed – indexed for MEDLINE]