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Genetic Linkage

French Anderson, “Father” of Gene Therapy, Released From Prison

Tonight French Anderson, 81, was released from state prison in California, after serving nearly a dozen years for “inappropriate touching and medical exams” of a girl, from 1997 to 2001, starting when she was ten.

Dr. Anderson headed the first clinical trial for gene therapy at the NIH in 1990, and he helped me when I was writing my book about the field, The Forever Fix: Gene Therapy and the Boy Who Saved It, which St. Martin’s Press published in 2012. I’d snail mail chapters to French’s wife Kathy, she’d take them to him, he’d mark them up with a pencil, and she’d mail them back.

French has always maintained his innocence and went to great effort to forensically discount the evidence against him, with several investigators demonstrating that the audiotape used to convict him– he appears to apologize to the victim – was spliced. He claims other evidence was falsified.

It is a complicated story involving the Chinese government’s interest in his discovery that an interleukin given to mice after exposure to high doses of radiation rescued them – a finding with profound military applications that was not the impetus for the study. French had been interested in treating radiation poisoning in cancer patients. A researcher in his lab patented the work in China – and she is the mother of the sexual abuse victim. I’ll leave it to others to assemble the puzzle pieces.

But I am sitting here absolutely stunned that one of the first things that French did when he returned home was to call me! Minutes ago! Read More 
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Making Sense of Crowdfunding for Unapproved Stem Cell Treatments

Sonny Mayo has turned to a GoFundMe drive to raise money for a stem cell treatment. (Image credit: Sonny Mayo)
When FDA approval for a technology or treatment lags behind demand, crowdfunding steps in. Desperate patients or their families launch such campaigns when insurance won't help. And that goes for potential uses of stem cells.

The diversity of medical conditions in crowdfunding campaigns for stem cell treatments reflects the perception that stem cells can cure anything. Indications range from the common – stroke, autism, multiple sclerosis, to Parkinson’s disease – to genetic diseases, injuries, degenerative conditions, and even infections. Yet some people seek stem cell support for “a fresh lease on life” or “rejuvenation.” More common, though, are tragic narratives of a “last option” or “a few months left.” They’re hard to read. Read More 
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Celebrating The Moms of Gene Therapy

Talia Duff has a rare form of Charcot-Marie Tooth disease (as well as trisomy 21 Down syndrome), with her mom Jocelyn.
As Mother’s Day and the annual meeting of the American Society of Gene and Cell Therapy approach, I’d like to update the stories of some of the moms I’ve written about, and introduce a new friend with perhaps the most astonishing gene therapy experience of all.

These women are some of the pioneers whose efforts will bring gene therapy to many more families. I wrote about Lori and Ilyce in my book The Forever Fix: Gene Therapy and the Boy Who Saved It, and met the others when they contacted me after reading it. Read More 
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Genetic Privacy and the Case of the Golden State Killer - Diving Into the Science

The alleged Golden State Killer -- caught with a familial clue from an ancestry DNA database.
Consumer DNA testing companies are rushing to reassure customers about the security of their genetic information following news that DNA data from a genealogy website was used by police to arrest the man they believe is the Golden State Killer, responsible for at least 12 murders and more than 50 rapes from 1976 to 1986.

But are DNA data ever really private? Read More 
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What’s a “Variant of Uncertain Significance?” A VUS?

Seven words someone taking a genetic test doesn’t want to hear:

“You have a variant of uncertain significance.” A VUS.

Instead of a yes or no answer – a gene has a mutation or it doesn’t – a VUS is a “not the usual, but we don’t know if it’s harmful.” A maybe.

But like a typo to just one letter on a page, single DNA base substitutions in a gene’s sequence might not alter the meaning of the encoded protein. This can happen as a change:

• of one three-base codon to another that specifies the same amino acid
• to a similarly-shaped amino acid
• in a part of the protein that’s not essential to it’s function.

Each of us has thousands of variants of uncertain significance, but we don’t know about them unless we take a genetic test. A VUS in a member of a family riddled with certain types of cancer can be stressful, especially if a surgical decision rests on genetic test results.

Misinterpretations can have tragic consequences. Read More 
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Experimental Drug Extends Survival in Progeria

(Progeria Research Foundation)
A report from a clinical trial for a drug to treat the rapid-aging disorder progeria, published in this week’s Journal of the American Medical Association, offers hope for families with the ultra-rare genetic condition.

Old Before Their Time

Children with Hutchinson-Gilford Progeria Syndrome have a distinctive appearance, seemingly hurtling towards old age. After an outwardly normal infancy, weight gain slows, hair thins, joints stiffen, and bones weaken. The gums remain smooth, bereft of erupting teeth. Skin wrinkles as the child’s chubbiness melts away too quickly, and a cherubic toddler begins to resemble a delicate bird.

Beneath the child’s toughening skin, blood vessels stiffen with premature atherosclerosis, fat pockets shrink, and connective tissue hardens. Inside cells, chromosome tips – telomeres – whittle down at a frightening rate, marking time too quickly. But some organs remain healthy, and intellect is spared. The end comes, typically during adolescence, usually from heart failure. Read More 
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Protein Therapy in the Womb Overrides Genetic Glitch Hampering Teeth Development, Ability to Sweat

Linus and Maarten received treatment in the womb for a condition that affects their older brother Joshua. (Dr. Holm Schneider)
Imagine a fetus gulping in amniotic fluid and drinking a drug that restores the ability to form teeth, sweat glands and hair that a mutation would otherwise have blocked. Holm Schneider, MD, PhD, at University Hospital Erlangen in Germany and his team have done just that, reporting this week in The New England Journal of Medicine on three toddlers who have avoided symptoms of X-linked hypohidrotic ectodermal dysplasia (XLHED), which they inherited and that affects their older brothers. Read More 
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Tale of Two Families: Exome Sequencing and Faster Diagnosis of Rare Disorders

Exome sequencing significantly sped diagnosis of Nicholas' rare genetic syndrome.
Sailing from New York City to London a century ago took days; today the trip takes hours by air. Similarly, the “diagnostic odyssey” to identify rare diseases has collapsed from years to months, sometimes even less, through the use of exome sequencing and analysis.

A tale of a teen and a tyke with the extremely rare Wiedemann-Steiner syndrome (WSS) argues for the value of earlier exome sequencing in the search for a diagnosis. Read More 
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