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Glenn Nichols, surrounded by his hospice team. The author is in yellow.
December 17, 2015
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‘Tis the season for Science
magazine to name their Breakthrough of the Year, a designation that typically irks me because it implies that science happens suddenly and we all know that of course it doesn’t.
FROM MAN TO MOLECULE TO BREAKTHROUGH
The Breakthrough of the Year began as the Molecule of the Year, which began in 1989 inspired by Time Magazine’s
Man of the Year, before said magazine realized that half of us are female. Early Molecules of the Year included such celebrities as p53
and nitric oxide. (more…)
October 16, 2015
Last Wednesday, at “Career Night” during the American Society of Human Genetics annual conference in Baltimore, I was stationed next to Robert Steiner, MD, from the Marshfield Clinic Research Foundation in Wisconsin. With young scientists circling us like electrons around nuclei, I never got the chance to break away to talk to him. But I did overhear him discussing the Genomic Postmortem Research Project, an effort to sequence the genomes of 300 dead people.
I was fascinated.
Would knowing the information encoded in the DNA of the deceased have changed their health care? I went to the talk on the project the next day to find out about this clever test of the value of genome sequencing. (more…)
December 7, 2014
Many years ago, a friend was helping me set up a desktop computer. When the time came to choose a password, he said it should be:
• More than 7 numbers or letters
• Obvious to me, but not to anyone else
The genetic code popped into my mind, and has remained an endless source of diverse passwords, valuable because they may seem nonsensical to non-biologists. (more…)
September 28, 2014
Is DNA dating destiny?
Last week’s post
dealth with three very serious applications of DNA testing. But not all DNA testing is to detect health-threatening conditions.
“Born to Run? Little Ones Get Test for Sports Gene,” ran the headline on the front page of the New York Times
, above an arresting image of a preschooler having his mouth swabbed for DNA. It’s from 2008, but remains a classic: I still assign it.
The sports gene company
is apparently still around and still testing for variants in just one gene: ACTN3. Two copies of the R577X variant indicate inborn skill at endurance events, and no copies suggest a child stick to sprints. The lucky heterozygotes might excel at both! Never mind that a child has some 20,000 or so other genes affecting physiology.
DISSECTING A DNA DATING WEBSITE
The most damage a sports gene test can do is to keep a child from doing something she loves because of a DNA-obsessed parent. A more questionable application of DNA testing is as part of “relationship science,” something I learned about a few weeks ago when a reporter from healthline.com
asked me about it. (more…)
September 21, 2014
In recent weeks, there’s been talk of three types of genetic testing transitioning from targeted populations to the general public: carrier screens for recessive diseases, tests for BRCA cancers, and non-invasive prenatal testing (NIPT) to spot extra chromosomes in fetuses from DNA in the maternal bloodstream.
Are these efforts the leading edge of a new eugenics movement? It might appear that way, but I think not.
When I began providing genetic counseling 30 years ago at CareNet, a large ob/gyn practice in Schenectady, NY, (more…)
June 14, 2013
(credit: Dept of Energy)
Earlier today, my “in” box began to fill with info from everyone I’ve ever met letting me know that the Supreme Court
had ruled on the Myriad case about patenting the breast cancer genes BRCA1 and BRCA2. I also received a dozen pitches from PR people offering me all manner of instant interviews with lawyers, doctors, bioethicists, and health care analysts.
No one offered me an interview with a geneticist – a person who knows something about DNA. So being such a person myself, I decided to take a look at the decision. And I found an error right smack in the opening paragraph: (more…)
April 19, 2013
10 editions of my textbook chronicle the evolution of genomics
This month we celebrate the DNA anniversaries: unveiling of DNA’s structure in 1953, and the human genome sequence in 2003.
From now until DNA Day, April 25, bloggers will be worshipping the human genome. Nature
will offer podcasts (“PastCasts”) and last week, Eric Green, director of the National Human Genome Research Institute, spoke to reporters
, summarizing the “quantitative advances since the human genome project.”
It’s also the 20th anniversary of my non-science majors textbook, Human Genetics: Concepts and Applications
. Writing the 10 editions has given me a panoramic view of the birth of genomics different from those of researchers, physicians, and journalists. Here are a few observations on the evolution of genetics to genomics, as I begin the next edition. (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…)
August 20, 2012
Gregor Mendel: should he stay or should he go (in textbooks)? (National Library of Medicine)
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, like a subtext hidden within the sequences of A, (more…)
March 16, 2012
Great display at Albany Barnes + Noble
Reports are trickling in as people read my new book, The Forever Fix: Gene Therapy and the Boy Who Saved It
(St. Martin's Press). It’s been amazing to hear the emotional ups and downs that accompany the experience, taking me back to how I felt writing the book.
For months, the words poured out, seemingly out of my control. I’d interview parents and researchers, usually late in the day, and be unable to sleep, immersed in their stories. (more…)
November 19, 2011
In a hotel ballroom on the campus of the University of Pennsylvania on a midsummer Saturday in 2010, an unusual roll call was under way at the Family Conference for the
Foundation for Retinal Research
. Betsy Brint, co-head of organization, was calling out what sounded like code words – CEP290, (more…)
October 18, 2011
October 11-15, 6,200 researchers and clinicians met in Montreal for the 12th International Congress of Human Genetics. After my brain recovered from the long days of meetings, one panel discussion emerged as my favorite: what I thought was going to be a dull comparison of DNA sequencing technologies turned out to be a spirited look at (more…)
August 21, 2011
I couldn’t help but stare at the ad: the sleek double helix winding behind the coiled container of makeup looked eerily like the covers of my human genetics
textbook and upcoming book about gene therapy
, both of which have DNA as a backdrop to faces. The standard beige goo that is Revlon’s Age Defying with DNA Advantage™
cream makeup swirls symmetrically upward, resembling more a soft-serve ice cream cone before the indentations are licked away than it does the molecule of life. I decided to investigate. (more…)
May 25, 2011
Think it’s a great idea to send off a spit sample to see which future health conditions lurk in your DNA? In the U.S., the Genetic Information Nondiscrimination Act
(GINA) prevents employers from using that information (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…)
May 17, 2010
I met Cynthia in a van from the airport, headed to the annual meeting of familytreedna
, where I was to speak about genetic testing. A beautiful blonde who looked decades younger than her 60 years, she’d led a painful life, with type 1 diabetes since childhood, just like her father, brother, (more…)
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.
DNA Science blog posts at Public Library of Science
My weekly blog posts at DNA Science cover breaking genomics news, often as personal stories, historical perspective, or looking ahead.
NORD Breakthrough Summit
Personalizing Medicine - Hannah's Story
Genetics and Reproduction: How Far Should We Go?
Interview with Filament Communications
Ricki Lewis on the Difference Between Writing About Science and Science Writing
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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