The Forever Fix gang: Corey Haas with book, surrounded by mom Nancy and dad Ethan Haas, Ricki Lewis on left next to Lori and Hannah Sames. At book signing 3/24/12, Barnes + Noble, Albany NY.
Glenn Nichols, surrounded by his hospice team. The author is in yellow.
April 12, 2013
Disease-causing mutations in healthy people suggest new drug targets. (NHGRI)
I’m uneasy counseling a patient for mutations in the BRCA1 or BRCA2 cancer susceptibility genes. Typically, she’ll have a “first degree relative” – usually a mother or sister – with a related cancer, or might even have a test result in hand. This happened a week ago.
FUZZY GENETIC INFORMATION
My patient comes from a long line of female relatives who’d died young from breast or ovarian cancer. She’s already been tested
and knows she has a BRCA1 mutation. Will she get the family’s cancer? Knowing would enable her to decide whether and when to undergo surgery to remove her breasts, ovaries, and uterus. (more…)
March 24, 2013
A genome sequenced to investigate one disease may reveal another.
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 a scan looking for something else. I had one -- a CT scan of my appendix revealed a polycystic liver. A friend had it much worse. She volunteered to be a control in an Alzheimer’s imaging trial, and her scan revealed two brain aneurysms!
Geneticists have long expected an avalanche of incidental findings from clinical (exome or genome) sequencing. (more…)
February 5, 2013
A breast cancer cell. (Natl Cancer Inst)
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 other clue suggests to an astute practitioner an increased risk of something specific.
If a test reveals a mutation that could cause a disease, then the patient and perhaps her partner discuss how, when and what to tell their children – in the best of circumstances, with the help of a genetic counselor. (more…)
November 2, 2012
Even after writing 10 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 received two such reports at once last week – about genetics researcher Ron Crystal
, MD, and a hypothetical (I think) story about President Obama
, I knew it was time to take action.
Or, in my case, inaction. (more…)
August 22, 2012
Genome sequencing traced a deadly bacterial outbreak at the NIH Clinical Center in June 2011.
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.
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. (more…)
June 2, 2010
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 (more…)
May 21, 2010
I’ve been at the American Society of Gene and Cell Therapy annual meeting this week, garnering tales for my book, tentatively entitled “The Forever Fix.” It is largely the story of 9-year-old Corey Haas, who was on his way to certain blindness when gene therapy performed at the Children's Hospital of Philadelphia in September 2008 (more…)
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 10th edition.
DNA reflects who we are -- but it isn’t the whole story.
A one-hour interview, mostly about why gene therapy has been beneath the radar.
Answers for the Family (http://answers4thefamilyblog.com) on www.LATalkRadio.com
Voiceamerica radio show
Kathryn Vox radio show, including "The Forever Fix"
Publishers Weekly starred review
first advance review for The Forever Fix
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