Ricki Lewis's Blog, page 54
October 2, 2012
Human Embryonic Stem Cells Finally Reach Clinical Trials: Maurie�s Story
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
Maurie�s disease was far along, the normally
Progress for Progeria
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
An infant with progeria looks normal, but when he or she is between the ages of one and two, parents
September 26, 2012
DNA Science -- My New Blog at Public Library of Science (PLoS)
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!
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!
August 30, 2012
The Denisova Genome and Guys Banging Rocks
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 P��bo, 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�).
August 23, 2012
Sex and the Single Slime Mold
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
August 21, 2012
Like a Game of �Clue,� Genomics Tracks Outbreak, Revealing Evolution in Action
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
In
August 19, 2012
Hidden Meanings in Our Genomes � And What To Do With Mendel
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,
August 1, 2012
Guest Blog: "I'm in the ACT Stem Cell Trial for Stargardt Disease!"
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!
July 30, 2012
Rare Diseases: 5 Recent Reasons to Cheer
(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
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
July 28, 2012
Gavin's Story Revisited -- Childhood Blindness Mutation Discovered
I'm rerunning this blog post from November, because Gavin's mutation was announced today -- the first step towards a gene therapy! Tomorrow I'll run my blog on the discovery that is now on Scientific American blogs.
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,
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,
