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Ricki Lewis

Genetic Linkage

From Rapid-Aging Disease to Common Heart Disease

October 9, 2012
Tags: Francis Collins, progeria, farnesyl transferase inhibitor, Progeria Research Foundation, lonafarnib, progerin, lamin A, Mark Kieran
Dr. Francis Collins, Director of the NIH, began pursuing a treatment for progeria, the rapid-aging disease, early in his career.
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.  Read More 
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Progress for Progeria

October 3, 2012
Tags: Francis Collins, progeria, farnesyltransferase inhibitor, Progeria Research Foundation, lonafarnib, progerin, LMNA, lamin A, aging
Megan and Devin have the rapid-aging disorder progeria. (Photo courtesy of the Progeria Research Foundation)
Surely progeria is among the saddest of genetic diseases, and one of the rarest. The recent finding that a shelved cancer drug (lonafarnib) may provide a treatment is good news – for all of us.

An infant with progeria looks normal, but when he or she is between the ages of one and two, parents  Read More 
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Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie’s Story

October 3, 2012
Tags: human embryonic stem cells, Advanced Cell Technology, Wills Eye Institute, Stargardt disease, Foundation Fighting Blindness, Maurie Hill
This is what Maurie Hill sees with her left eye covered when observing the eye chart from a meter away (credit: Derek Bove)
On July 11, Wills Eye Institute ophthalmologist Carl Regillo delicately placed 100,000 cells beneath the retina of 52-year-old Maurie Hill’s left eye. She was rapidly losing her vision due to Stargardt disease, an inherited macular dystrophy similar to the much more common dry age-related macular degeneration (AMD).

Maurie’s disease was far along, the normally  Read More 
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DNA Science -- My New Blog at Public Library of Science (PLoS)

September 27, 2012
Tags: Public Library of Science, PLoS, gene therapy, genetic testing, stem cells
http://blogs.plos.org/dnascience/
I have a new blog at Public Library of Science (PLoS), 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 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! Read More 
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The Denisova Genome and Guys Banging Rocks

August 31, 2012
Tags: Denisova, australopithecine, Svante Pääbo
A Neandertal and Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology (photo credit)
As a textbook author, I often have to evaluate new research and predict whether it will stand the test of time. I’m a skeptic. But when Svante Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig and his colleagues introduced a new member of the human family in 2010 based on a preliminary genome sequence from a finger bone found in Denisova Cave in the Altai Mountains of southern Siberia, with few other clues, I included her in my book. She was the first discovered Denisovan (pronounced “Denise-o-van”).  Read More 
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Sex and the Single Slime Mold

August 24, 2012
Tags: Dictyostelium discoideum, sea slug, Siphopteron quadrispinosum, PLoS One, social amoeba
When their bacterial food is scarce, single Dictyostelium cells send signals drawing thousands of cells together, forming a mobile slug. (Wikipedia).
Among the scintillating science headlines this week was a report on the sex life of the sea slug Siphopteron quadrispinosum in PLoS One, complete with a compelling photograph of the dually-endowed hermaphrodites caught in the act. The slugs are too violent for  Read More 
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Like a Game of “Clue,” Genomics Tracks Outbreak, Revealing Evolution in Action

August 22, 2012
Tags: epidemiology, NHGRI, Science Translational Medicine, genome, Klebsiella pneumoniae, NIH
Genome sequencing traced a deadly bacterial outbreak at the NIH Clinical Center in June 2011.
Was it Colonel Mustard in the library with a lead pipe? Or Mrs. Peacock in the ballroom with a candlestick? No, it was deadly, drug-resistant Klebsiella pneumoniae from a 43-year-old woman spreading to 17 other patients, killing 6 of them and sickening 5 others, at the National Institutes of Health’s (NIH) Clinical Center in June 2011.

In  Read More 
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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,  Read More 
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Guest Blog: "I'm in the ACT Stem Cell Trial for Stargardt Disease!"

August 2, 2012
Tags: human embryonic stem cells, Advanced Cell Technology, Wills Eye Institute, Stargardt disease, retinal disease
Maurie Hill, after receiving retinal cells derived from human embryonic stem cells at the Wills Eye Institute in Philadelphia on July 11.
I am thrilled to introduce Maurie Hill, who is having her Stargardt disease (a form of early-onset macular degeneration) treated with retinal cells derived from human embryonic stem cells. I was going to write about her experience (and I will), but she is a great writer, and she and the Ai Squared Blog are sharing her story here. Welcome Maurie! Read More 
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Rare Diseases: 5 Recent Reasons to Cheer

July 31, 2012
Tags: rare disease, Leber congenital amaurosis, gene therapy, exome sequencing
3-year-old Gavin Stevens is at the center of one of four papers just published in Nature Genetics about the discovery of a childhood blindness gene.
(This blog first appeared at Scientific American blogs on July 29. I have written about the 4 childhood blindness papers for Medscape Today, to be published August 2 or 3.)

On Sunday morning, July 21, I faced a room of people from families with Leber congenital amaurosis (LCA), an inherited blindness caused by mutations in any of at least 18  Read More 
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