New edition coming in September 2014!!!


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.

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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Using the Genetic Code for Passwords

December 7, 2014

Tags: genetic code, DNA, RNA, amino acids

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:

• Alphanumeric
• 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…)

DNA and Dating: Buyer Beware

September 28, 2014

Tags: DNA, genetic testing, DNA and dating

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…)

Genetic Testing For All: Is It Eugenics?

September 21, 2014

Tags: genetic testing, eugenics, NIPT, BRCA, carrier testing, DNA

(NHGRI)
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…)

Supreme Court BRCA Decision: Use Correct Terminology!

June 14, 2013

Tags: Supreme Court, BRCA1, BRCA2, gene patents, DNA, composite DNA

(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…)

DNA Day: 20 Years of Writing a Human Genetics Textbook

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. (more…)

Incidental Findings from Genome Sequencing – Nuances and Caveats

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. (more…)

Hidden Meanings in Our Genomes – And What To Do With Mendel

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, (more…)

The Forever Fix is Published! A Short Reader’s Guide

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. (more…)

Gavin's Story: Whole Exome Sequencing Finds Mystery Mutation

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, (more…)

Personal Genome Sequencing: Too Much Information?

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 (more…)

Make-up: What's DNA Got To Do With It?

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. (more…)

My Microbiome

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 (more…)

Creating Life and Curing Blindness

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 (more…)

GeneticsWatch

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, (more…)

Selected Works

blog posts
An annotated table of topics and textbook chapter #s for my DNA Science blog posts at Public Library of Science.
instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
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.
College Textbooks
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.
Nonfiction
DNA reflects who we are -- but it isn’t the whole story.

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