April 19, 2013
Tags:
human genome, DNA, genetics, Gregor Mendel, cystic fibrosis, textbook
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.
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March 24, 2013
Tags:
genome, DNA, incidental finding, 23andMe, bioethics
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.
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August 20, 2012
Tags:
human genome, exome, linkage, mutation, American Journal of Human Genetics, Human Genetics: Concepts and Applications, DNA, Huntington disease, cystic fibrosis, osteogenesis imperfecta, ALS, essential tremor, Gregor Mendel, Ricki Lewis
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,
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March 16, 2012
Tags:
The Forever Fix: Gene Therapy and the Boy Who Saved It, Ricki Lewis, Corey Haas, gene therapy, medicine, biotechnology, DNA, St. Martin's Press
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.
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November 19, 2011
Tags:
whole exome sequencing, human genome, Gavin Stevens, Ming Qi, Leber congenital amaurosis, Foundation for Retinal Research, Knome, Complete Genomics, John Chiang, CEP 290, LRAT, CUBY20, Beijing Genomics Institute, DNA, rare disease
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,
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October 18, 2011
Tags:
whole exome sequencing, human genome, DNA, Michael Hayden, James Watson, Han G. Brunner, International Congress of Human Genetics, Complete Genomics, Radoje Drmanac, Segolene Ayme, Joris Veltman, Luanne Hudgins, OrphanNet, rare diseases, Huntington's disease, BRCA1, Lynch syndrome, incidentaloma, Leslie Biesecker, National Human Genome Research Institute, Personal Genome Sequencing: Too Much Information?, ICHG2011
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
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August 21, 2011
Tags:
DNA, sunscreen, antioxidant, FDA, DNA Advantage, anti-aging, cosmetics
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.
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May 25, 2011
Tags:
direct-to-consumer genetic testing, 23andme, DNA, worker's compensation, Canadian Medical Association, blaming genes, genetic predisposition, genetic discrimination, genetic determinism, bioethics, fish DNA, fish forensics, MOA deficiency defense, GINA, osteoarthritis, GWAS, Genome Canada
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
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June 2, 2010
Tags:
microbiome, DNA, penis microbiome, oral microbiome, skin microbiome, genome, vaginal microbiome, gut microbiome
My Microbiome
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
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May 21, 2010
Tags:
Venter, DNA, creating life, genome, American Society of Gene and Cell Therapy, gene therapy, blindness
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
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May 17, 2010
Tags:
direct-to-consumer genetic testing, ancestry testing, Walgreen's, DNA, American Society of Human Genetics, bioethics
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,
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