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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

A 31-Gene Test to Predict Alzheimer’s

October 16, 2017

Tags: Alzheimer's disease, APOE4

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 (more…)

As Blindness Gene Therapy Nears the FDA Finish Line, A Shout-Out to Activist Families

October 14, 2017

Tags: FDA, gene therapy, Luxturna

(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. (more…)

Brain Cancer in Kids: Tailoring Treatment Based on Mutations

October 10, 2017

Tags: glioma, glioblastoma

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. (more…)

Poliovirus To Treat Brain Cancer: A Curious Chronology

October 1, 2017

Tags: glioma, brain tumor, cancer, immunotherapy, poliovirus

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. (more…)

Upchuck Factor: Alcoholism Targeted With Novel Gene Therapy

September 26, 2017

Tags: gene therapy, alcoholism, ADH, ALDH2

The intense nausea that follows drinking alcohol for people with a certain gene variant may become the basis for a gene therapy to prevent alcohol use disorder, the new medicalized term for alcoholism. It would work much like the drug Antabuse, used for more than half a century, but on a less fleeting permanent basis.

Cells process ethanol, the type of alcohol in beverages, in two steps, each controlled by an enzyme. First ADH (alcohol dehydrogenase) speeds the reaction of ethanol to form acetaldehyde. Then ALDH2 (aldehyde dehydrogenase 2) breaks down the acetaldehyde into acetic acid, aka vinegar.

But if that second enzyme isn’t working well, acetaldehyde builds up, and nausea ensues. Because throwing up is so unpleasant, individuals who tend to upchuck after drinking avoid alcohol. (more…)

White Supremacy: The Dark Side of Eugenics

September 26, 2017

Tags: white nationalists, white supremacists, Science Trends, ancestry testing

Charlottesville, August 12, 2017
Whenever I work on a new edition of my human genetics textbook and reach the section on eugenics, at the end of an evolution chapter, I’m relieved that it’s history. But this summer, as I wrapped up the 12th edition, the eugenics coverage took on a frightening new reality. (more…)

Gene Therapy and September Scenes

September 20, 2017

Tags: gene therapy

Hannah Sames and Steve Gray, PhD, the researcher who developed the viral vector to treat her nervous system disease.
Last week I gave an invited lecture at Georgia College, “Gene Therapy: A Forever Fix”?

I’ve given the talk many times, since my book The Forever Fix was published in 2012, but this was the first time I didn’t cry. That’s because the first children who have received gene therapy are showing signs of having a future. (more…)

A Genetic Disease With a Domino Effect: Multiple Sulfatase Deficiency

September 10, 2017

Tags: multiple sulfatase deficiency

Willow Cannan
Willow is a beautiful name. Meaning slender and graceful, like the tree, it evokes images of a little girl running through the woods with streams of hair behind her. But Willow Cannan, who lives in Mississippi with her parents and two older sisters, can’t run or do very much on her own.

A MASTER MOLECULE MISSING

Willow was born on August 21, 2013. At first she seemed fine, except for difficulty nursing.

“Nothing in itself was significant, but a combination of things over time got worse. She crawled a little late. She did walk, but late, at 18 months. She had frequent ear infections, and dry skin that was very bad on her back and her scalp. And she never talked. No words, not even dada. She just made a few sounds,” recalled her mother, Amber Olsen.

The clues started to accrue between 18 and 24 months, when speech therapy didn’t help. Was the problem fluid in her ears, or enlarged adenoids? Willow had her adenoids out the day after she turned 2.

Amber and her husband Tom Cannan probably didn’t know it at the time, but they were about to start the diagnostic odyssey that millions of rare disease families share. It starts with convincing a pediatrician to look beyond the “horses” that are the common childhood conditions to recognize that a child is a zebra or unicorn, with a collection of rare peculiarities that might actually be trumpeting an underlying genetic glitch. (more…)

Memo To White Nationalists From a Geneticist: Why White Purity Is A Terrible Idea

September 1, 2017

Tags: white nationalists, white supremacists, Science Trends, ancestry testing

In response to media items about white nationalists disappointed in their DNA ancestry testing results, I read the paper on which the reports were based, and wrote "Memo To White Nationalists From A Geneticist: Why White Purity Is A Terrible Idea," for a new website, Science Trends. The post is here.

Were Ancient Humans Healthier Than Us?

September 1, 2017

Tags: Neanderthal, Denisovan, human genome

A curious thing happened when researchers at Georgia Tech used modern human genome sequences to look back at the possible health of our long-ago ancestors – they found that while the Neanderthals and Denisovans of 30,000 to 50,000 years ago seemed to have been genetically sicker than us, “recent ancients” from a few thousand years ago may actually have been healthier. Their paper, “The Genomic Health of Ancient Hominins,” is published in Human Biology.

How could that be? Perhaps drugs and procedures that enable us to live with certain conditions also perpetuate gene variants that would otherwise sicken us enough to not reproduce. We pass on those genes and inexorably weaken our global gene pool. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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