icon caret-left icon caret-right instagram pinterest linkedin facebook twitter goodreads question-circle facebook circle twitter circle linkedin circle instagram circle goodreads circle pinterest circle

Genetic Linkage

Family with Two Rare Syndromes Reveals Immunity Glitch


Members of a three-generation family in France who suffer from widespread infections and fragile skin, joints, bones, and blood vessels share an underlying and unexpected immune system glitch, according to a new report in Science Immunology.


The grandmother died of septic shock at age 76. She had the same collection of problems that plague her 45-year-old daughter, and her 19-year-old granddaughter. They have two syndromes that aren't known to occur together:


"Chronic mucocutaneous candidiasis" brings persistent infections with the yeast Candida albicans, in the vagina, skin folds, mouth (thrush), and other mucosal linings. All three women also suffer UTIs, ear-nose-and-throat infections, and bacterial skin infections.


Connective tissue disorders similar to Ehlers-Danlos syndrome include hypermobile joints; soft, velvety, super-stretchy skin; palm and sole blisters; stretch marks; slow wound healing; poor digestion; osteoporosis; and, most debilitating, chronic widespread pain. Abnormal connective tissue is dangerous, because blood vessels and organs such as the uterus and intestines can burst.


To continue reading go to DNA Science, where this post first appeared.

Be the first to comment

Does the ‘genetics revolution’ unsettle you? Here is a guide, and reasons to be hopeful

It's that time of year again — an avalanche of ads urging us to drool into tubes so companies can spit back verdicts on our pasts, presents, and futures. Judging from my emails, those unceasing ads have inspired many questions about genetics in general.


Among the emails that pinged in recently:


  • A pediatrician sent lists of the gene variants found in her own in vitro-fertilized embryos. Which should she implant?
  • How reliable are pharmacogenetic tests to select the most effective anti-depressant?
  • "Have you seen anything on the horizon for a gene therapy for a chromosomal unbalanced translocation?" (No. A gene and a chromosome are different entities and targets.)
  • Would I write about a man's invention of a $100 genome sequencer? Review a book? Lend my image and name to a DNA-data-interpreting company? Consider a job as a gene variant curator?

So I started a list of my e-mails, with apologies to Hillary, and extracted three recurring themes: transgender identity, when a human life begins, and by far the largest group: interpreting DNA test results, either consumer or clinical.


To continue reading, go to Genetic Literacy Project, where this post first appeared.

Be the first to comment