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Genetic Linkage

Redhead Gene Doubles Melanoma Risk, Without Sun

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?

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

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

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

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

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!

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

(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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Can a Quirky Chromosome Create a Second Human Species?

Genome sequencing hides chromosome rearrangments -- which may be clinically very important.
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. Read More 
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Hannah’s 2016: From Curling Toes to Gene Therapy

Hannah Sames will have gene therapy in March, after an 8-year effort from her family. Go Hannah!
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  Read More 
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