Ricki Lewis's Blog, page 46
April 19, 2016
Second Gene Therapy Nears Approval in Europe: Lessons for CRISPR?
CRISPR-Cas9 gene editing has been around not even 4 years, and people are avidly discussing its promises and perils. That�s great. But consider the historical backdrop.
April 1, the European Medicine Agency�s (EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. �Strimvelis� treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan and GlaxoSmithKline. Regulatory approval is expected within a few months.
I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago?
April 1, the European Medicine Agency�s (EMA) Committee for Medicinal Products recommended for marketing approval a second gene therapy. �Strimvelis� treats adenosine deaminase severe combined immunodeficiency syndrome (ADA-SCID) and was developed at the San Raffaele Telethon Institute for Gene Therapy in Milan and GlaxoSmithKline. Regulatory approval is expected within a few months.
I wonder how many people realize, especially those fearful of how gene editing might be misused, that the gene therapy that is nearing approval actually entered clinical trials 26 years ago?
April 5, 2016
Gorilla Genome 2.0: Lessons for the Clinic?
The unveiling of a new and improved gorilla genome sequence isn�t a �first,� but the differences between it and gorGor3, from 2012, echo clinical situations that can arise when genetic information is incomplete.
First, the gorilla news.
First, the gorilla news.
March 30, 2016
Craig Venter�s Synthetic Genome 3.0 Evokes Classic Experiments
J. Craig Venter and his colleagues at Synthetic Genomics Inc update their efforts to create a �hypothetical minimal genome" in
Science
.
�JCVI-syn3.0,� or syn3.0 for short, is about 531,000 DNA base pairs organized into 473 genes, serially transplanted into cells of the tiny and fast-replicating Mycoplasma mycoides and M. capricolum. The first iteration of the smallest synthetic genome, JVCI-syn1.0, has just over a million base pairs, and the intermediate JCVI-syn2.0 has 576,000.
While syn3.0 will serve as a foundation for future synthetic biology, it reminds me of two favorite experiments from more than half a century ago.
�JCVI-syn3.0,� or syn3.0 for short, is about 531,000 DNA base pairs organized into 473 genes, serially transplanted into cells of the tiny and fast-replicating Mycoplasma mycoides and M. capricolum. The first iteration of the smallest synthetic genome, JVCI-syn1.0, has just over a million base pairs, and the intermediate JCVI-syn2.0 has 576,000.
While syn3.0 will serve as a foundation for future synthetic biology, it reminds me of two favorite experiments from more than half a century ago.
March 26, 2016
From Denisovan DNA to Future Humanity
The idea that the genomes of those of us without African ancestry harbor some DNA from Neanderthals has inspired cartoons and jokes, and I got a lot of flak when I wrote about the discovery of diabetes risk genes from Neanderthals in Mexicans. Apparently Neanderthals admixed themselves into European and East Asian populations at least three times.
A new paper in Science from Svante P��bo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and his colleagues, indicates that we have more to learn from the parts of our genomes that don�t have remnants from the Neanderthals and the less familiar Denisovans. We share a common ancestor with them from about a million years ago.
A new paper in Science from Svante P��bo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, and his colleagues, indicates that we have more to learn from the parts of our genomes that don�t have remnants from the Neanderthals and the less familiar Denisovans. We share a common ancestor with them from about a million years ago.
March 12, 2016
Genetic Counselors Best to Interpret DTC Genetic Tests
Can health care providers adequately explain results from direct-to-consumer (DTC) DNA tests to patients? �Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing,� a study published March 1, suggests a disconnect between what consumers expect and what their doctors can deliver.
February 17, 2016
CRISPR Clarifies Split-Hand/Foot
While James R. Clapper, Director of National Intelligence, calls genome editing a "national security threat", bioethicists warn of CRISPR-created superbabies, and prominent researchers argue whether patents trump papers, I prefer to quietly look at applications of the technology that aren�t dramatic enough to enter the endless news cycle, but elegantly reveal the power of the technology.
February 9, 2016
Help Young, Blind Musician Meet Bruce Springsteen!
Last March, my husband Larry and I attended the annual gala for the Curing Retinal Blindness Foundation, near Philadelphia. During the cocktail hour, someone was singing at the piano, �Born to Run.� I turned to Larry.
�Who would have the confidence to try to match Bruce Springsteen, and on that song? And sound just like him?�
Michael Smedley did. Blindness hasn�t stopped the then 15-year-old from being a musician, an actor, and an athlete. He�s a vocalist and keyboard player for the band Casual Friday.
But it isn�t easy.
�Who would have the confidence to try to match Bruce Springsteen, and on that song? And sound just like him?�
Michael Smedley did. Blindness hasn�t stopped the then 15-year-old from being a musician, an actor, and an athlete. He�s a vocalist and keyboard player for the band Casual Friday.
But it isn�t easy.
January 28, 2016
Can a Quirky Chromosome Create a Second Human Species?
In this age of genome sequencing, we can lose sight of the importance of how our genomes are distributed over 23 pairs of chromosomes. Rearrangements of the pairs are invisible to sequencing, because the correct amount of genetic material is present.
A recent genetic counseling session reminded me of a chromosomal quirk that flies completely under the radar of genome sequencing, yet if it turns up in two copies in a bunch of people who have sex, could actually begin a second human species, who have 22 pairs of chromosomes.
A recent genetic counseling session reminded me of a chromosomal quirk that flies completely under the radar of genome sequencing, yet if it turns up in two copies in a bunch of people who have sex, could actually begin a second human species, who have 22 pairs of chromosomes.
When a Bad Animal Model is Good: Cystic Fibrosis
A �good� animal model is one that has the same symptoms of a disease that we do, right?
Not always. Sometimes we can actually learn more when an animal is not a perfect model; their good health can reveal new points of intervention. That�s the case for cystic fibrosis, according to findings published in Science . Mice with cystic fibrosis (CF) that do not develop airway infections hold a chemical clue to how people with CF might do the same.
Not always. Sometimes we can actually learn more when an animal is not a perfect model; their good health can reveal new points of intervention. That�s the case for cystic fibrosis, according to findings published in Science . Mice with cystic fibrosis (CF) that do not develop airway infections hold a chemical clue to how people with CF might do the same.
January 11, 2016
Hannah�s 2016: From Curling Toes to Gene Therapy
Eleven-year-old Hannah Sames can still curl her toes, just barely. But time is running out.
If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt � she may even regain function, as mice did.
It�s been an 8-year wait. So Facebook friends call 2016 �Hannah�s year.�
The first sign that something was amiss
If Hannah can move her toes for a few more weeks, until she becomes the fourth child in a clinical trial for gene transfer to treat giant axonal neuropathy (GAN), the disease might halt � she may even regain function, as mice did.
It�s been an 8-year wait. So Facebook friends call 2016 �Hannah�s year.�
The first sign that something was amiss
