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Ricki Lewis

Genetic Linkage

No Pain and Extreme Pain From One Gene

April 21, 2016
Tags: Pain, sodium channel, SCN9A
Sensory neurons derived from induced pluripotent stem cells from patients with "burning man syndrome"
The family from northern Pakistan is one of the strangest to appear in the scientific literature. At its center is a 10-year-old, a street performer who walked on hot coals and inserted daggers through his arms before astonished crowds – feeling absolutely no pain. He died at age 13 from jumping off of a roof, considering himself impervious to all injury.

I’ve included this story in my textbooks for so long that I recently began to wonder if I’d been perpetuating an urban legend. Then a study in this week’s Science Translational Medicine led me back to the Pakistani boy. He was real. And it turns out that different mutations in the same gene can cause complete absence of pain, or attacks of pain so severe that sufferers compare the sensation to dipping one’s feet into hot lava. In these extremes lie clues to developing new painkillers. Read More 
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Second Gene Therapy Nears Approval in Europe: Lessons for CRISPR?

April 20, 2016
Tags: gene therapy, ADA deficiency, bubble boy
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? Read More 
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Redhead Gene Doubles Melanoma Risk, Without Sun

April 20, 2016
Tags: melanoma, MC1R, redhead
Variants of the melanocortin-1-receptor (MC1R) gene impart the red hair, fair skin, and freckles of a Prince Harry or Wilma Flintstone – and also poorer protection against ultraviolet (UV) radiation and therefore higher risk of developing skin cancers, including melanoma. But a new study published in JAMA Dermatology reveals that MC1R genotype alone more than doubles the risk of melanoma.

The Ginger Gene
Many colorful creatures owe their distinctive phenotypes to MC1R variants, from red pandas and ruffed lemurs, to Golden retrievers and brown cavefish and Kuzakh fat-rumped sheep. Orangutans are an exception – their hue arises from a different gene. Read More 
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Gorilla Genome 2.0: Lessons for the Clinic?

April 6, 2016
Tags: gorilla genome
Susie lives at the Lincoln Park Zoo, in Chicago
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.

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Craig Venter’s Synthetic Genome 3.0 Evokes Classic Experiments

March 31, 2016
Tags: synthetic biology, synthetic genome, J. Craig Venter
Is a synthetic genome new life?
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. Read More 
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From Denisovan DNA to Future Humanity

March 27, 2016
Tags: Denisovan, Neanderthal DNA, human evolution
Svante Pääbo and an old friend
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 Pääbo, 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. Read More 
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Genetic Counselors Best to Interpret DTC Genetic Tests

March 13, 2016
Tags: genetic counseling, direct-to-consumer genetic tests, 23andMe, Pathway Genomics
Genetic counselors know more about genetic testing than other health care professionals.
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.

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CRISPR Clarifies Split-Hand/Foot

February 18, 2016
Tags: split hand/foot, CRISPR, genome editing, bioethics
A mother and two daughters who have "lobster claw deformity."
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. Read More 
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Help Young, Blind Musician Meet Bruce Springsteen!

February 10, 2016
Tags: Bruce Springsteen, Leber congenital amaurosis, hereditary blindness, NORD
Please help Michael meet the Boss
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.  Read More 
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When a Bad Animal Model is Good: Cystic Fibrosis

January 29, 2016
Tags: cystic fibrosis, animal models, Kalydeco
(NHGRI)
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. Read More 
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