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Genetic Linkage

A 31-Gene Test to Predict Alzheimer’s

When the direct-to-consumer genetic testing company 23andMe received FDA approval back in April to market a test for the e4 variant of the gene APOE, which is associated with elevated risk of developing late-onset Alzheimer’s disease, it gave people a possible peek into their futures.

About 15 percent of the population has one or two copies of the high-risk gene variant. For a long time the risk of developing Alzheimer’s for e4 double-dose individuals was 12 to 15 fold, but only 3 fold for those with one copy. Those figures have declined with re-analysis of the data.

A new 31-gene test can identify individuals at higher risk for the disease, including many who test okay for APOE e4. (Which stands for "apolipoprotein E epsilon 4 allele.")

A MORE POWERFUL TEST Read More 
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As Blindness Gene Therapy Nears the FDA Finish Line, A Shout-Out to Activist Families

(NHGRI)
On a spectacular September Sunday in 2008, 8-year-old Corey Haas, using his cane and holding his mother’s hand, stepped tentatively forward on the pathway leading into the Philadelphia zoo. Hearing kids yelling about the giant balloon hanging above the zoo, he looked up – and screamed. It was the first time he’d seen the sun. Corey was headed toward certain blindness when he’d had gene therapy at Children’s Hospital of Philadelphia, just days earlier.

So begins the talk I’ve given many times since publication of my book, "The Forever Fix: Gene Therapy and the Boy Who Saved It.

Last Thursday, I was glued to my laptop, watching and listening to physicians, researchers, family, and patients present their cases for FDA approval of
Luxturna (voretigene neparvovec), the gene therapy that Corey, now a high school senior, received. He and dozens of others participating in several clinical trials can now see, thanks to the gene therapy for RPE65-mediated inherited retinal dystrophy. The treatment introduces functioning genes into the thin layer of pigmented cells that hugs the rods and cones – one time. Read More 
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Brain Cancer in Kids: Tailoring Treatment Based on Mutations

I’ll admit it, I was sucked in.

"Sharon was given a few months to live if her cancer wasn’t treated," somberly intones the voiceover. Then the non-descript older woman sitting tall on a plain chair tells her story – she had non-small cell lung cancer, but, thanks to Keytruda, she’s alive a year later. The camera pans to a young relative off to the side, her eyes brimming.

When a new story extolling Keytruda appeared, starring Donna, I began to fret that something dire had befallen Sharon. It was then that I noticed, at the bottom of Donna’s story, the words "Donna is a real patient."

Was Sharon an avatar? I went back to her ad and noticed, for the first time, the scroll at the bottom of the screen: "Actor portrayal of a real patient from the clinical trial."

Oops. Read More 
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Poliovirus To Treat Brain Cancer: A Curious Chronology

Certain things have a natural order. Breakfast before lunch. Infancy before adolescence. Autumn before winter.

So I was surprised to read an article last week in Science Translational Medicine about experiments at Duke University treating cancer in human cells and in mice with an engineered poliovirus, when the television news show 60 Minutes had reported on four patients receiving the treatment for brain tumors back in 2015. Doesn’t preclinical work – cells and animal models – come first?

I decided to investigate. Read More 
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