Posts

April 11, 2013

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6:01 PM | A Spleen Gene–and a Ribosomal Surprise

The spleen is a very unappreciated body part. The Talmud considered it the “organ of laughter,” whereas the ancient Greeks equated it with melancholy. Today it’s sometimes used to mean anger. When a spleen bursts, spewing all manner of blood cells, we simply take it out – as happened to Katniss Everdeen in the third [...]

March 23, 2013

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1:08 AM | Incidental Findings from Genome Sequencing – Nuances and Caveats

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. The term “incidental finding” comes from “incidentaloma,” coined in 1995 to describe an adrenal tumor found on [...]

February 21, 2013

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5:03 AM | New Guidelines on Testing Kids’ DNA – the Cliff’s Notes Version

Exomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. It began with Nicholas Volker and his recovery from a devastating gastrointestinal disease with a stem cell transplant once his exome sequence revealed his problem. And my recent Medscape assignments reveal the trend: 7 of 12 [...]

December 05, 2012

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10:01 PM | The Battle of the Prenatal Tests

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. It’s the Y chromosome. Part of it appears to [...]

August 30, 2012

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6:05 PM | The Denisova Genome and Guys Banging Rocks

As a textbook author, I often have to evaluate new research and predict whether it will stand the test of time. I’m a skeptic. But when Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig and his colleagues introduced a new member of the human [...]

August 22, 2012

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6:02 PM | Like a Game of Clue, Genomics Tracks Outbreak, Revealing Evolution in Action

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 [...]

August 20, 2012

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5:17 PM | Hidden Meanings in Our Genomes – And What To Do With Mendel

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. [...]

July 29, 2012

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5:08 PM | Rare Diseases: 5 Recent Reasons to Cheer

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. It was the final session of the Foundation for Retinal Research’s bi-annual LCA family conference, and I was there to discuss the history of [...]

July 13, 2012

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11:07 AM | Is Future-Use DNA Sampling Ethical?

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. But we don’t know if the drug is actually helping, because she started it before the FDA urged physicians to use a pharmacogenetic (PGx) test to [...]

July 03, 2012

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1:01 PM | Amniotic Fluid + Valproic Acid = New Source of Human Stem Cells

I’ve written about human stem cells from all sorts of sources, from human embryos circa 1997 (“Embryonic Stem Cells Debut Amid Little Media Attention,” The Scientist, too ancient for a link), to old people’s teeth. Dominating the field in recent years have been the human induced pluripotent stem (hiPS or reprogrammed) cells that Shinya Yamanaka [...]

June 26, 2012

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11:30 AM | 4 Suggestions for Halting the Lethality of Cancer

I had a very strange week. While in Washington, D.C., writing news releases, for the Model Organisms to Human Biology: Cancer Genetics meeting sponsored by the Genetics Society of America, I had left, back home in upstate New York, my dear hospice patient. Ruth was nearing the end of her battle with liver cancer. It [...]

June 14, 2012

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12:10 PM | The Bonobo Genome and Rewinding the Tape of Life

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. An illustration in my human genetics textbook resembles the intro to The Brady Bunch, a checkerboard of nine new genomes with each edition, now with more than 1,000 [...]

June 09, 2012

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12:56 PM | UGS (Universal Genome Sequencing) in the Mid-21st Century

#StorySaturday is a Guest Blog weekend experiment in which we invite people to write about science in a different, unusual format – fiction, science fiction, lablit, personal story, fable, fairy tale, poetry, or comic strip. We hope you like it. ======= “Hi.” “Hi.” “This is awkward.” “Yeah. I thought it might be.” “But you’re what [...]

May 24, 2012

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12:26 PM | The “Valley of Death” Looms for 8 Kids With a Rare Disease

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. It’s rare. Francis Collins, MD, PhD, director of the National Institutes [...]

May 16, 2012

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12:53 PM | 10 Things Exome Sequencing Can’t Do–But Why It’s Still Powerful

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 [...]

May 09, 2012

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7:59 PM | Body-Altering Mutations – In Humans and Flies

I became a science writer, circa 1980, because I didn’t think flies with legs growing out of their heads – my PhD research – had much to do with human health or biology. So when I spied the words “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of [...]

April 25, 2012

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4:02 AM | A Tale of 2 G-Spots

When cosmetic gynecologist Adam Ostrzenski, MD set out to discover the elusive G-spot, the part of a woman’s anatomy supposedly responsible for orgasm, he followed a flawed premise – but his finding announced today will undoubtedly generate frantic media coverage. The discovery of the G-spot in a lone elderly corpse and the lack of information [...]

April 17, 2012

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12:04 PM | Vanquishing “Mossy Foot” with Genetic Epidemiology and Shoes

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. Instead, podo arises from an immune response to microscopic slivers of mineral [...]

April 14, 2012

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3:58 PM | The Making of a Mutant: A Fruit Fly Love Story

CHAPTER 1 Long before her mother had told her the truth, she’d sensed from the sneers of her neighbors that she was different. Her larval segments were squished, not quite right, and her head too small. Now, hidden in her cocoon, she pondered her plight as she awaited, with apprehension, the great, forthcoming eclosion. What [...]

April 03, 2012

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12:45 PM | Are DNA Patents Doomed?

DNA is special. Unlike other body parts, it holds information. Even discarding a blood spot or saliva sample doesn’t necessarily prevent the telltale DNA sequences from living on in a database. We guard our DNA data in a way that we don’t other test results, such as cholesterol levels. “Genes are uniquely ‘ours.’ They say [...]