When a deaf Czech girl had her genes tested, researchers were surprised to find two sets of her father's genome spliced, leaving almost none of her mother's genome. Only about 25 girls and zero boys have ever been found with this trait.
Many of these girls get rare recessive diseases like tumors, and researchers have identified five paternally imprinted regions that can cause these rare diseases when doubled. Via the case report:
Genome-wide paternal uniparental isodisomy (GWpUPD) is typically characterized by a mosaic blend of paternal uniparental and biparental cell lineages. Uniparental isodisomy can result in human disease as a result of loss of one parent's allele(s) in an imprinted region or unmasking recessive disease-causing mutations. The clinical consequences depend on the mosaic percentages and the location of the uniparental lineage.
They still don't know why she's deaf, though. Researchers were pleased to note she is the first case where clinicians have not detected cancer.
• An 11-Year-Old Got Most Of Her Genes From Her Dad, And Almost None From Her Mom (Buzzfeed Science)
Image: Suvan Chowdhury
Writing for the New York Times, Heather Murphy has a fascinating story about the unexpected results of a bone marrow transplant. When a patient receives a bone marrow transplant, the patient’s own cells are destroyed and replaced with cells from a donor. Thereafter, the patient is a “chimera,” with two sets of DNA. It’s believed […]
I’m not an engineer, but I can’t stop watching this hypnotic and oddly satisfying video of tying rebar.
The Australian Acoustic Observatory project, described by its creators as a kind of “Google Street View of sound,” is a new acoustic sensor network of hundreds of microphones and digital audio recorders distributed across multiple remote ecosystems on the continent. The solar-powered system will record animal and natural sounds continuously for 5 years. According to […]
When it comes to the qualities of a good project manager, you hear a lot of talk about “soft skills” like leadership ability and confidence. And where does confidence come from? It comes from people who are dead certain they know the right steps to take. In other words, you’ve got to master the hard […]
You might know someone who can make a pipe out of any conceivable household object. But if they’re doing it every time they smoke, it might be time to get them a little Christmas present. And we’ve got just the thing: The Twisty™️ Glass Original Combo Pack, priced way, way down for December. If you’ve […]
With all the revolutionary tech that’s out there, it’s pretty sad that finding a simple stud in your wall can feel like dowsing for water. This can be equally true whether you’re using a magnetic finder and it’s reliance on “feel,” or an electronic unit that can give fuzzy readings (especially when the batteries are […]