Ricki Lewis's Blog, page 53
December 18, 2012
Excerpt about Canavan disease from "The Forever Fix: Gene Therapy and the Boy Who Saved It"
The excerpt below supplements the blog entry that is beneath it and also at Public Library of Science. It is from The Forever Fix: Gene Therapy and the Boy Who Saved It, (St. Martin's Press, 2012).
I sat at a table with Paola, Mike, Max and Max�s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son�s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you.
I sat at a table with Paola, Mike, Max and Max�s charming little brother Alex, who was eight going on twenty-eight. While the adults ate chicken alfredo (except for vegetarian Paola) and the kids downed chicken fingers and fries, Mike leaned over Max, pulled up his shirt, and deftly attached a bag of cream-colored stuff to the feeding tube coming from his son�s stomach, holding it aloft for the food to go in. At the front of the ballroom, Ilyce, svelte in a shimmering blue gown, was getting ready for her annual thank-you.
December 13, 2012
When An Arm Is Really A Leg
Flipping the X-ray showed Stefan Mundlos, MD, that his hunch was right � the patient�s arms were so odd and stiff because the elbows were actually knees.
The recent report from Dr. Mundlos� group at the Max Planck Institute for Molecular Genetics, complete with a genetic explanation for the condition, flew under the radar of the press-release-driven science news aggregators. But I noticed it because I worked on this sort of thing in grad school � flies with legs growing out of their heads.
The recent report from Dr. Mundlos� group at the Max Planck Institute for Molecular Genetics, complete with a genetic explanation for the condition, flew under the radar of the press-release-driven science news aggregators. But I noticed it because I worked on this sort of thing in grad school � flies with legs growing out of their heads.
December 8, 2012
The Battle of the Prenatal Tests
The young couple looked at me expectantly as I re-read the amnio report and tried to decide what to tell them.
�The ultrasound from 15 weeks looks fine,� I stalled, trying to present the good news first.
�What about the amnio?�
�Well, there is something unusual. It�s the Y chromosome. Part of it appears to be flipped. What we call an inversion. It�s a little like if the exits on a highway turned around,� I explained.
The couple looked at each other, puzzled, then back at me, and he reached for her hand.
�What does that mean?� they both asked.
�The ultrasound from 15 weeks looks fine,� I stalled, trying to present the good news first.
�What about the amnio?�
�Well, there is something unusual. It�s the Y chromosome. Part of it appears to be flipped. What we call an inversion. It�s a little like if the exits on a highway turned around,� I explained.
The couple looked at each other, puzzled, then back at me, and he reached for her hand.
�What does that mean?� they both asked.
November 28, 2012
Cialis Comes Full Circle � Help for Muscular Dystrophy
Becker muscular dystrophy is a muscle-wasting disease that is rarer and less severe than the more familiar Duchenne type. Both conditions are basically untreatable. But according to a study published today in Science Translational Medicine, Cialis may alleviate the associated muscle fatigue and damage.
Yes, Cialis. The erectile dysfunction drug.
To anyone who�s followed the Viagra story, use of its cousin Cialis to treat muscle disease is not so much repurposing as it is a logical extension, based on regulating blood flow.
Viagra, developed in 1989, began its ascent three years later, when participants in a clinical trial to treat angina, which is chest pain due to blocked blood flow, reported strikingly improved erections. Taking a pill to treat what was about to evolve from �impotence� to �erectile dysfunction� trumped penile implants and injections, or older approaches of ingesting camel hump fat, jackal bile, or various herbs. Pfizer introduced Viagra to the world in 1998.
Yes, Cialis. The erectile dysfunction drug.
To anyone who�s followed the Viagra story, use of its cousin Cialis to treat muscle disease is not so much repurposing as it is a logical extension, based on regulating blood flow.
Viagra, developed in 1989, began its ascent three years later, when participants in a clinical trial to treat angina, which is chest pain due to blocked blood flow, reported strikingly improved erections. Taking a pill to treat what was about to evolve from �impotence� to �erectile dysfunction� trumped penile implants and injections, or older approaches of ingesting camel hump fat, jackal bile, or various herbs. Pfizer introduced Viagra to the world in 1998.
November 23, 2012
JIM: More Compelling Than GATTACA
For 15 years, the film GATTACA has been synonymous with �genetic dystopian future,� and has become a mainstay of genetics classrooms. But I�ve found a better film. It�s called, simply, JIM.
I never could connect with GATTACA, the dark tale of an assumed genetic identity in a society where the quality of one�s genome dictates all. Perhaps because in 1997, the pre-genome era, the idea of ordering a DNA test over the Internet was still science fiction. But ironically GATTACA�s �not-too-distant� future, in which a genetically inferior �invalid� impersonates a �valid� to achieve a dream, sets up a too-obvious conflict, with the details and resolution contrived. I know this from years of reading fiction and watching soap operas.
I never could connect with GATTACA, the dark tale of an assumed genetic identity in a society where the quality of one�s genome dictates all. Perhaps because in 1997, the pre-genome era, the idea of ordering a DNA test over the Internet was still science fiction. But ironically GATTACA�s �not-too-distant� future, in which a genetically inferior �invalid� impersonates a �valid� to achieve a dream, sets up a too-obvious conflict, with the details and resolution contrived. I know this from years of reading fiction and watching soap operas.
November 16, 2012
Mice With Human Liverlets Test New Drugs
�Scientists at Stanford have produced mice with human brains, pigs with human blood flowing through their veins, and a human born to mice parents and mice with human heads.�
So wrote a student summarizing the �Genetically Modified Organisms� chapter of my human genetics textbook a few years ago. Two of the four comments are true, sort of.
So wrote a student summarizing the �Genetically Modified Organisms� chapter of my human genetics textbook a few years ago. Two of the four comments are true, sort of.
November 1, 2012
Why I Don't Want to Know My Genome Sequence
Famous folk have been writing about their genome sequences for a few years now. But when I received two such reports at once last week � about genetics researcher Ron Crystal, MD, and a hypothetical (I think) story about President Obama, I knew it was time to take action.
Or, in my case, inaction.
Or, in my case, inaction.
October 24, 2012
Male DNA in Female Brains Revisited
�Some women actually have men on the brain� beckoned the headline from the 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.
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.
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.
October 17, 2012
Prenatal Genetic Testing: When is it "Toxic Knowledge"?
When I was a fetus, I was left alone. My amniotic fluid and chorionic villi were untouched, and I arrived apparently normal, except for a mark on the part of my anatomy where a bullet �directly bit� Forrest Gump.
Perhaps that�s too much information.
Perhaps that�s too much information.
October 8, 2012
From Rapid-Aging Disease to Common Heart Disease
Last week I looked at how Dr. Francis Collins became involved in the quest to discover the genetic defect that causes the rapid-aging disorder Hutchinson-Gilford progeria syndrome. Preliminary results of a possible drug therapy -- one originally developed to treat childhood brain cancer -- were about to be published. Dr. Collins isn�t on that paper, perhaps sidetracked with things like running the NIH.
We All Have Progerin
Between the progeria gene discovery in 2003 and the recent repurposed drug news lies perhaps the most important paper of all: a 2010 report comparing the arteries of two children with progeria who�d died of heart attacks � a girl just under age 10, and a boy aged 14 � to blood vessels from 29 people.
We All Have Progerin
Between the progeria gene discovery in 2003 and the recent repurposed drug news lies perhaps the most important paper of all: a 2010 report comparing the arteries of two children with progeria who�d died of heart attacks � a girl just under age 10, and a boy aged 14 � to blood vessels from 29 people.
