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Male DNA in Female Brains Revisited
Fetal cells remain in moms — that isn’t news. But the discovery of fetal DNA in women’s brains is. (credit: Jay Shendure lab) “Some women actually have men on the brain” beckoned the headline from the...
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Why I Don’t Want to Know My Genome Sequence
Even after writing ten editions of a human genetics textbook, I don’t want to know my genome sequence. Yet. Famous folk have been writing about their genome sequences for a few years now. But when I...
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Direct-to-Consumer Genetic Testing: A New View
San Francisco — On a Thursday night in October 2007, I sat with hundreds of geneticists at the American Society of Human Genetics annual meeting in San Diego, so stunned that we ignored the free...
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Mice with Human Liverlets Test New Drugs
Mice with human livers are better models for spotting drug-drug interactions than are mice with only their own livers. “Scientists at Stanford have produced mice with human brains, pigs with human...
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JIM: More Compelling Than GATTACA
“Jim” is a terrific glimpse of a frightening future from Jeremy Morris-Burke, a self-taught filmmaker. For 15 years, the film GATTACA has been synonymous with “genetic dystopian future,” and has become...
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Cialis Comes Full Circle — Help for Muscular Dystrophy
One symptom of Becker muscular dystrophy is fatigue and injury of exercising muscles, such as in gripping a weight. Becker muscular dystrophy is a muscle wasting disease that is rarer and less severe...
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XYY Men
This karyotype includes one X and one Y chromosome – normal. A man with XYY “syndrome” has an extra Y, but the only effect this may have is to be tall. (Figure credit: Darryl Leja, NHGRI) by Jack...
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When An Arm is Really a Leg
The hands of a person with Liebenberg syndrome resemble feet; the arms resemble legs. (Credit: Dr. Malte Spielmann) Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right – the...
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Gene Therapy for Canavan Disease: Max’s Story
Max Randell had his first gene therapy for Canavan disease shortly before his first birthday. His mother Ilyce holds him. (Photo: Mike Randell) I’m thrilled about the encouraging gene therapy results...
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The Curious Genetics of Werewolves
The “wolf boy” brothers have Ambras syndrome, a single-gene condition that may have inspired the werewolf legend. (Gary Moore photo) Growing up in the 1960s, I collected monster cards: The 60-foot-man...
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Comparing Adam Lanza’s DNA to Forensic DNA Databases: A Modest Proposal
Is there a genetic signature for criminality? It’s an old and controversial question. (NHGRI) In 1729, Jonathan Swift of Gulliver’s Travels fame published a satirical essay called “A Modest Proposal.”...
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The Crud: Viral or Bacterial?
Influenza. (credit: CDC) My immune system is still on hyperdrive from what may have been the flu 3 weeks ago. I qualify my self-diagnosis because I never had a test to tell whether viruses or bacteria...
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Retinal Stem Cells and Eye of Newt
Cultured human RPE cells look like cobblestones, and 3% of them act like stem cells — in dishes. Could they treat eye diseases? (Tim Blenkinsop) More than a decade before Sally Temple, PhD, and her...
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My Cat Has AIDS
Juice was an impulse buy. It was early July 2003, and we were headed to the mall for a gift for Carly, about to turn 15. We parked near a bus equipped as an animal shelter. Inside, kitten-filled cages...
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Another Bump in the Road to Gene Therapy?
Corey wouldn’t be able to jump, and land safely, had he not had gene therapy. (Dr. Wendy Josephs) I am astonished, once again, by the complexity and unpredictability of science. Last week, a paper in...
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Genetic Testing: Carrier Confusion and Generation Reversal
In the usual trajectory of passing on genetic information, the older tell the younger, when the time is right. Typically, a patient has a genetic test because family history, ethnic group, or some...
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A Fruit Fly Love Story: The Making of a Mutant
For Valentine’s Day, here is a fly’s eye view of my PhD research on the mutation Antennapedia. Although published in this millenium at Scientific American blogs on April 14, 2012, I wrote “The Making...
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Do You Know Genetics?
This week’s guest blog is from University of San Diego senior Courtney Chow. By Courtney Chow The field of genetics has made headlines with groundbreaking advancements in recent years. The applications...
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Rare Disease Day: What 5 Kids with Low Vision CAN Do
(credit: The Gavin R. Stevens Foundation) In honor of Rare Disease Day, I caught up with some of the wonderful families I’ve met whose children have Leber congenital amaurosis. Only 2 to 3 of every...
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Personalized Medicine: Read the Chart!
(Credit: AlphaBaby) While we’re busy debating the pros and cons of clinical genome sequencing and tossing around buzzwords like “personalized” and “translational” medicine, I’ve recently caught some...
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