The Forever Fix: Gene Therapy and the Boy Who Saved It (324.0KB)
flyer / handout
March 6, 2015
September 28, 2014
post dealth with three very serious applications of DNA testing. But not all DNA testing is to detect health-threatening conditions.Last week’s
“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
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…)
February 22, 2013
Nicholas Volker and his recovery from a devastating gastrointestinal disease with a stem cell transplant once his exome sequence revealed his problem. And recent Medscape assignments reveal the trend: 7 of 12 kids’ exomes leading to diagnosis atExomes are big news. Sequencing of the protein-encoding part of the genome is increasingly solving medical mysteries in children. It began with
from May 10, 2012; whole genomes of 5 infants from the neonatal intensive care unit at Children’s Mercy Hospital and Clinics in Kansas City, Missouri from October 3, in under 2 days each, focusing on 600 single-gene diseases; and 300 patients at the Whole Genome Laboratory at the Baylor College of Medicine, with 300 more waiting -- 85% of them kids, from November 9, 2012. (You have to sign in to Medscape; it’s free.)
Before we all run out to get our exomes and/or genomes sequenced, (more…)
October 25, 2012
LA Times on September 27, echoing an article in PLoS One describing the discovery of male fetal DNA in the brains of pregnant women. It was “an astonishing finding,” according to the newspaper, necessitating “a new paradigm of the biological self” according to lead author J. Lee Nelson of the Fred Hutchinson Cancer Research Center and the University of Washington.“Some women actually have men on the brain” beckoned the headline from the
I suspect Dr. Nelson was quoted out of context, for the idea of two genetically distinct populations of cells, or their DNA, residing in one individual isn’t new. It’s called microchimerism. (more…)
September 27, 2012
DNA Science. Each Thursday I'll explore stories from real people experiencing opportunities and challenges posed by biotechnology, including genetic testing, gene therapy, exome sequencing, stem cells, and more.I have a new blog at Public Library of Science (PLoS),
I like to find the stories that no one else tackles, connect topics in unusual ways, dip into bioethics, and wherever possible, bring in the historical perspective that shows that "overnight breakthroughs" are almost always anything but. And the PLoS tag is opening doors -- I spoke with Dr. Francis Collins yesterday!
The first blog is "Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie's Story."
Join me on this new adventure!
February 25, 2012