A decade and a half after a series of tragic setbacks led to critical reevaluations, scientists say gene therapy is ready to enter the clinic
The spleen is a very unappreciated body part. The Talmud considered it the “organ of laughter,” whereas the ancient Greeks equated it with melancholy.
You have your genome or exome (the protein-encoding part) sequenced to help diagnose a puzzling set of symptoms, and something totally unrelated, and unexpected, turns up – a so-called “incidental finding.”Surprises, of course, aren’t new in medicine.
Gene therapy, once off to a rocky start, transforms medicine by getting at the root cause of many diseases
The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.“The ultrasound from 15 weeks looks fine,” I stalled, trying to present the good news first.“What about the amnio?”“Well, there is something unusual.
Was it Colonel Mustard in the library with a lead pipe? Or Mrs. Peacock in the ballroom with a candlestick? No, it was deadly, drug-resistant Klebsiella pneumoniae from a 43-year-old woman spreading to 17 other patients, killing 6 of them and sickening 5 others, at the National Institutes of Health’s (NIH) Clinical Center in June 2011.In a biotech version of the classic board game "Clue," researchers from the National Human Genome Research Institute (NHGRI) used genome sequencing to solve the medical mystery of how the infection spread.
Summer reading for most people means magazines, novels, and similar escapist fare, but for me, it’s the American Journal of Human Genetics (AJHG). Perusing the table of contents of the current issue tells me what’s dominating this post-genomic era: information beyond the obvious, a subtext hidden within the sequences of A, C, T and G.In the decades following the cracking of the genetic code in the 1960s – the correspondence between DNA (actually RNA) triplets and the 20 types of amino acids in biological proteins – the “one gene-one protein” mindset guided genetic research.
On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18 genes.
My mother-in-law’s arms look like she’s been in a fight. The bruises don’t hurt, but they’re embarrassing. They’re likely due to the drug Plavix, a trade-off for preventing clots.
When I wrote for The Scientist , I covered the debuts of several genome sequences – fruit fly, rat, pufferfish, and the plague bacterium, to name a few.
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The pharmaceutical industry rightly calls the stage in drug development between basic research and clinical trials the “Valley of Death.” This is when a potential treatment that’s worked in mice, monkeys, and the like catapults to a phase 1 clinical trial to assess safety.
Sequencing of the exome – the protein-encoding parts of all the genes – is beginning to dominate the genetics journals as well as headlines, thanks to its ability to diagnose the formerly undiagnosable.The 2011 Pulitzer Prize in Explanatory Reporting honored the Milwaukee-Wisconsin Journal Sentinel’s coverage of a 4-year-old whose intestinal disorder was finally diagnosed after sequencing his exome.
In Fasil Tekola Ayele’s native Ethiopia, the people call it “mossy foot.” Medical textbooks call it podoconiosis, non-filarial elephantiasis, or simply “podo.”The hideously deformed feet of podo result not from mosquito-borne parasitic worms, as does filarial elephantiasis, nor from bacteria, like leprosy.