
Genetic Linkage
If “Fifty Shades of Grey” Had Been Written by a Biology Textbook Author
July 10, 2012

What if "Fifty Shades of Grey" was about -- digestion?
Come summertime, even nerds need to escape to a trashy novel. Megabestseller “Fifty Shades of Grey” tells the tale of Anastasia Steele, an innocent ensnared within the orbit of the mysterious “dominator” Christian Grey. Despite its enshrinement at the top of the Amazon ranks, the book reads as if written by a horny 15-year-old, Read More
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Human Stem Cells from Amniotic Fluid
July 4, 2012

Stem cells from amniotic fluid are like Russian nesting dolls -- they are derived from the cells that would become sperm or eggs in a fetus.
A new source of human stem cells reminds me of Russian nesting dolls: They come from amniotic fluid. When exposed to a seizure drug (valproic acid), they divide to give rise to cells that can specialize as nearly any cell type – they are “pluripotent,” like embryonic stem (ES) cells. But the new stem cells are most like precursor cells in a fetus that become sperm and eggs. And so the cells derived from an organ in a pregnant woman might otherwise, if paired with the opposite type of sex cell, have become her grandchildren! Read More
4 Suggestions for Halting the Lethality of Cancer
June 27, 2012

Brain tumors (photo from Glia, 2002, Ignatova, T. et al, courtesy D.A. Steindler.)
(Originally published at Scientific American, guest blog, June 26)
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 was jarring to go from holding her hand to listening to litanies of deranged signal transduction pathways and cascades of mutations that cause the damn diseases. Read More
The Bonobo Genome, Dave Matthews, and Rewinding the Tape of Life
June 15, 2012

Ulindi, a bonobo, has had her genome sequenced. Photo courtesy Max Plank Institute for Evolutionary Anthropology
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 to choose from. In just the past few weeks, several salad ingredients have had their genomes unveiled.
But the genome sequence to intrigue me the most, except for our own, is that of the bonobo, aka Pan paniscus. Read More
But the genome sequence to intrigue me the most, except for our own, is that of the bonobo, aka Pan paniscus. Read More
Max Graduates!
June 4, 2012

14-year-old Max Randell, who has Canavan disease, is graduating middle school!
Max Graduates!
Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.
Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.
Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies). Read More
Tomorrow night, Max Randell will graduate from middle school. He even passed a test on the U.S. Constitution. I don’t think I could do that.
Max has Canavan disease. And thanks to gene therapy, he’s here to celebrate.
Canavan disease is an inherited disease that strips the insulation from nerve cells in the brain. It destroys neural function, beginning at birth and likely before, and the child loses the battle by age 8 -- unless she or he has gene therapy, still experimental (as are all gene therapies). Read More
The “Valley of Death” Looms for 8 Kids With a Rare Disease
May 24, 2012

Hannah Sames, here with her dog Ginger, awaits gene therapy. (photo: Dr. Wendy Josephs)
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 of Health, calls this period “where projects go to die.” The reason: $.
Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.
For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. Read More
Francis Collins, MD, PhD, director of the National Institutes of Health, calls this period “where projects go to die.” The reason: $.
Matthew Herper writes in Forbes that the cost of developing a new drug is $4-11 billion, not the $1 billion that Pharma often claims. Yet even that $1 billion is unimaginable, especially when you put a face on a rare disease and witness what the family goes through to leap to phase 1.
For me, that face belongs to 8-year-old Hannah Sames, of Rexford, New York. Read More
10 Things Exome Sequencing Can't Do -- But Why It's Still Powerful
May 20, 2012

Clinically relevant information in DNA hides in repeats, controls, and "junk" -- not just the protein-encoding exome.
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 after sequencing his exome. Read More
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. Read More
Kids With 2 Upper Jaws -- And My Fruit Flies
May 13, 2012

3D CT scan of child with ACS. Lower jaw is small and malformed (left); same aged child with normal jaw (middle); lower jaw of child with ACS inverted over upper jaw of normal skull (right). (Credit: Image courtesy of Seattle Children’s).
Body-Altering Mutations – In Children 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. So when I spied “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. Read More
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. So when I spied “A Human Homeotic Transformation” way down on the Table of Contents in the May issue of the American Journal of Human Genetics, I was as riveted as a normal person would be getting a copy of People with a celebrity on the cover. Read More
The Irony of HIV Gene Therapy
May 5, 2012

HIV on a human lymphocyte.
Buried somewhere beneath the long-awaited announcement of the birth of Jessica Simpson’s baby on May 2 was encouraging news about HIV infection: gene therapy appears to be safe.
Anti-retroviral drugs (ARTs) have been remarkably successful, but they require daily doses and have adverse effects. Gene transfer is an alternative approach that gives selected cells the genes to manufacture proteins necessary to counter a particular disease. Gene transfer (which technically becomes gene therapy once it works) to treat an enzyme deficiency, for example, provides genetic instructions for the missing enzyme. To treat an infection or cancer, gene therapy bolsters immune system cells.
Read More
Anti-retroviral drugs (ARTs) have been remarkably successful, but they require daily doses and have adverse effects. Gene transfer is an alternative approach that gives selected cells the genes to manufacture proteins necessary to counter a particular disease. Gene transfer (which technically becomes gene therapy once it works) to treat an enzyme deficiency, for example, provides genetic instructions for the missing enzyme. To treat an infection or cancer, gene therapy bolsters immune system cells.
Read More
My Microbiome
May 2, 2012
I'm reposting this 2-year-old blog about the various bacterial outposts in the human body, in celebration of today's publication of the microbiome of a very special, intimate place. (I can say no more because it is embargoed until 2PM, when I will be traveling.)
Yesterday I committed a terrible crime. I walked away from a treadmill at the Y without scrubbing the handles.
“Ricki, get back here,” admonished the attendant as I headed for the elliptical. “You forgot to wipe down!”
“But I’m not sweating, and I never get sick. I won’t pass along Read More
Yesterday I committed a terrible crime. I walked away from a treadmill at the Y without scrubbing the handles.
“Ricki, get back here,” admonished the attendant as I headed for the elliptical. “You forgot to wipe down!”
“But I’m not sweating, and I never get sick. I won’t pass along Read More