Mosaicism: study clarifies parents as source of new disease mutations
Scientists have long speculated that mosaicism – a biological phenomenon in which cells within the same person have a different genetic makeup – plays a bigger role in the transmission of rare disease mutations than is currently known. A study conducted by an international team of scientists led by Baylor College of Medicine sheds new light on the frequency of mosaicism in genomic disorders and its influence on recurrence risk.
Harmful mutations can fly under the radar
Scientists have long known that the human body is a mosaic: All of our cells don't contain exactly the same genome. Every time a cell divides, genetic errors can occur, leading to variations in the DNA sequence that may proliferate and—in some cases—cause disease. Now that genetic sequencing and other technologies have made it easier to recognize mutations that occur in only a subset of cells, researchers are finding more and more harmful mutations hidden among unaffected cells. These findings suggest that in some cases, standard genetic tests in the clinic may be overlooking the underlying cause of genetic disease and underestimating a person's risk of passing such mutations on to their children.
Researchers find cause of rare, fatal disease that turns babies' lips and skin blue
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.
Gene For Deadly Inherited Lung Disease Identified
A rare, deadly developmental disorder of the lungs called alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) that usually kills the infants born with it within the first month of life results from deletions or mutations in the FOXF1 transcription factor gene, said a consortium of researchers led by Baylor College of Medicine in a report that appears in the American Journal of Human Genetics.
