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Ricki Lewis

Genetic Linkage

The Y Chromosome: Size Matters

February 22, 2012
Tags: Y chromosome, David Page, Jennifer A. Marshall-Graves, Jennifer Hughes, X chromosome, Ricki Lewis, Human Genetics: Concepts and Applications
The human Y chromosome
Let me get this straight: The human Y chromosome has barely changed from that of a rhesus macaque, a monkey from whom we parted ways some 25 million years ago, and that’s good news? I suppose compared to disappearing, it is.

For several editions now, my human genetics textbook has run an “In Their Own Words” essay in which MIT’s David Page, protector of the Y, has defended the measly male chromosome against charges from Jennifer A. Marshall-Graves, of Australian National University, that it is disappearing. She helpfully points out in my book, “You can lack a Y and not be dead, just female,” then goes on to call the Y “a pathetic little chromosome that has few genes interposed with lots of junk.”  Read More 
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Older Dads Have More Mutations

February 21, 2012
Tags: sperm, advanced maternal age, paternal age effect, amniocentesis, Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, USC, American Journal of Human Genetics, PLoS Genetics, Down syndrome, multiple endocrine neoplasia, Costello syndrome, Trig Palin, Bella Santorum, trisomy 18, Edwards syndrome
As a genetic counselor, I hate telling a woman over 35 that she’s of “advanced maternal age,” which raises the risk of conceiving a child who has an extra chromosome. Now older men are in the reproductive spotlight too.

Since the nineteenth century, physicians have noted that Down syndrome babies tend to be the  Read More 
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My New View of DTC Genetic Testing

February 15, 2012
Tags: direct-to-consumer genetic testing, BRCA1, breast cancer, 23andMe, Ricki Lewis, Alden March Bioethics Institute, Myriad Genetics, gene patenting, Ashkenazi Jews, genetic counseling, spit test, Parkinson's Disease, National Institutes of Health, More Magazine
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“Are you still collecting stories about DTC testing? I've got one for you!” my grad student L.W. e-mailed a few days ago. Little did I know her family's experience would change my mind about direct-to-consumer genetic testing.

L.W. had taken my online course “Genethics” in 2008 for the master’s program at the Alden March Bioethics Institute of Albany Medical College. Read More 
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Gene Therapy Changes the Brain

February 8, 2012
Tags: gene therapy, LCA2, Corey Haas, Jean Bennett, Ricki Lewis, CHOP, University of Pennsylvania, The Forever Fix: Gene Therapy and the Boy Who Saved It, Foundation Fighting Blindness, Leber congenital amaurosis, retinitis pigmentosa, second gene therapy, Science Translational Medicine, fMRI
It doesn't take a brain scientist to see that the visual cortex of this formerly-blind woman lights up -- after gene therapy.
It isn’t often that a brain scan chokes me up, but this one did. The fMRI shows area 17 of the visual cortex coming to life in a woman born with Leber congenital amaurosis type 2 (LCA2). She’s part of the very same gene therapy clinical trial chronicled in my upcoming book The Forever Fix: Gene Therapy and the Boy Who Saved It. The symbolic boy is Corey Haas, who, four days after gene therapy in 2008 at age 8, screamed when he saw the sun at the Philadelphia zoo, his shadow world suddenly brightened. Read More 
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The Crime Gene Revisited

January 27, 2012
Tags: XYY, crime gene, Patricia Jacobs, GWAS, Ricki Lewis, congenital criminals, genetic determinism, National Longitudinal Study of Adolescent Health, Human Genome Project, Law and Order, twin study, heritability, Jeffrey Dahmer, Back to the Future, Marty McFly
"Research shows genes influence criminal behavior," proclaims a January 25 news release, setting my genetic determinism detector on high alert.

I flashed back to the cover of the May 18, 1970 Newsweek, “Congenital Criminals?” which probed the work of Patricia Jacobs. Here’s what my human genetics textbook says on the study provoking the 1970 headline:  Read More 
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A Textbook Author’s View of “5-Minute Publishing”

January 21, 2012
Tags: iBooks Author, Apple, iPad, McGraw-Hill Higher Education, Life, The Forever Fix: Gene Therapy and the Boy Who Saved It, Ricki Lewis, St. Martin's Press, 5-minute textbook, on-demand publishing, textbooks, washington post
It takes a village to produce a textbook.
iBooks Author “will let anyone make their own interactive textbook, in like 5 minutes flat,” according to several reports on Apple’s January 19 announcement. Then why did my first college textbook, Life, take 10 years?

It’s simple: researching, writing, editing, and publishing  Read More 
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Should Gene Doping Studies Be Published?

January 18, 2012
Tags: gene doping, IGF-1, human growth hormone, transgenic mouse, gene therapy, muscles, performance enhancing drugs, mouse experiment, animal model, EPO, erythropoietin, insulin-like growth factor, adeno-associated virus Ricki Lewis, H15N1 flu, Human Gene Therapy
In late 2011, creation of a lab strain of of H5N1 influenza capable of spreading easily among ferrets, and presumably us, sparked heated debate about whether and when to publish scientific research that could do harm. The same could be said for gene doping.

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Ricki’s Rant: Genome Sequence, NOT Genetic Code

January 11, 2012
Tags: genetic code, human genetics, human genome sequence, Human Genome Project, Ricki Lewis, Morse code, computer code, Wall Street Journal, National Geographic, insulin, X-Files, model organisms, drug discovery, recombinant DNA, viruses
Strawberries can use a gene from peanuts to withstand frost because the genetic code is universal.
Humans do not have their own genetic code, and certainly each of us does not have his or her own. The idea of our utter uniqueness might be attractive, but genetics just doesn’t work that way. And it’s a good thing.

The genetic code is the correspondence between a unit of DNA  Read More 
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Non-PC Genetics Lingo

January 10, 2012
Tags: human genetics, Ricki Lewis, orphan disease, Orphan Drug Act, National Organization for Rare Diseases, European Organization for Rare Diseases, rare disease, Race, people of color, mixed ancestry, NORD, Encyclopedia of Race and Racism, Sheila van Holst Pellekaan, HGDP, Human Genome Diversity Project, aborigine, Joseph Graves
We are all people of color, except the Invisible Man and Woman.
I struggle to stay politically correct when updating my human genetics textbook. “Hemophiliac” became “person with hemophilia” and “victim” vanished several editions ago. In the current incarnation, “mentally retarded” became “intellectually disabled” after colleagues warned that  Read More 
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Gene Therapy and the 10,000-Hour Rule

January 4, 2012
Tags: gene therapy, The Forever Fix: Gene Therapy and the Boy Who Saved It, Malcolm Gladwell, 10, 000-hour rule, Ashi DeSilva, Biology Digest, William French Anderson, Donald Kohn, ADA deficiency, Leber congenital amaurosis, Kalydeco, ivacaftor, Vertex Pharmaceuticals, cystic fibrosis, severe combined immune deficiency, Ricki Lewis, Corey Haas, Jesse Gelsinger
“Breakthroughs” in biomedicine are rarely that – they typically rest on a decade or more of experiments. Consider gene therapy.

I just unearthed an article from the December 1990 issue of Biology Digest, "Gene Therapy." I wrote it a mere two months after the very first gene therapy experiment, the much-publicized case of 4-year-old Ashi DeSilva,  Read More 
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