Ricki Lewis

Ads for DNA testing kits on social media and TV seem to usher in every holiday. The pitches for Father's Day dropped right after Mother's Day:

 

$50 off at 23andMe, plus free gift wrap! Offer ends June 17.

 

"Celebrate Dad's Genes" Father's Day Sale with 25 percent off at Family Tree DNA," offer also expiring June 17.

 

"Give the world's greatest Dad our best DNA experience yet. $40 off!" shouts AncestryDNA. "Now with greater details and new features, Dad can get a richer view of his story and discover what he's made of. Give Dad the Gift of Discovery!"

 

 

If my father were alive to open an enticing shiny package and "discover what he's made of" by sending in a spit sample, he'd find that it's not what I am made of. He'd discover that, biologically speaking, he isn't my father at all. But he raised me, so of course he was.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

 

The editing of the genomes of twin girls announced via YouTube in November 2018 using CRISPR/Cas9 set off alarm bells for the premature use of the controversial technology. But the protests may have been misplaced: it wasn't just the germline gene editing, but choice of the delivered gene – CCR5 – that might introduce risk. A new report in Nature Medicine indicates that the engineered mutation is associated with increased mortality.

 

 

To continue reading go to Genetic Literacy Project, where this post first appeared.

For some parents, a physician's advice to "just take him home and love him," presumably letting nature take it's most likely course, is just not acceptable. This blog has championed many such parents, who serve as catalysts for others.

 

New to rare disease territory is Orah Lasko, whose toddler Jacob not only has an exceedingly rare disease, but a highly unusual mutation behind it. With all of the media coverage of the high costs of new biotech-based treatments – gene therapy, targeted cancer drugs, monoclonal antibody-based drugs, antisense oligonucleotides – having such a double dose of rarity could be quite an obstacle.

 

But that's not stopping Orah. Nor are the words of a neurologist who advised her to stop pursuing treatments.

 

The Diagnostic Odyssey

 

Orah Lasko's pregnancy, her third, had been uneventful, with normal findings on the standard prenatal tests. Jacob seemed okay when he was born in September 2017, with minor feeding issues that went away. His small genitals didn't set off any alarm bells.

 

But as the months went on, other things appeared. Or didn't.

 

 

To continue reading, go to my blog, DNA Science.

 

 

 In the spring of 2018, the capture of the Golden State Killer using a consumer DNA database catapulted the issue of genetic privacy into the headlines. A year later, a second case has pushed genetic privacy to the precipice of a slippery slope as the mothership of DNA databases involved in both cases, GEDmatch, has changed its Terms of Service to give users more control over accessibility of their data to law enforcement.

 

But will increased privacy control slow the momentum in using DNA to catch criminals? The new forensic technology is cracking a case a week now, turning cold cases red hot.

 

The FBI works with genetic genealogists at Parabon NanoLabs, which for many cases uses GEDmatch, which is free. These experts combine DNA information with traditional resources like historical accounts, diaries, and census data to identify individuals.

 

The Utah case

 

This spring's flashpoint centered on use of GEDmatch to break an assault case in Utah. Up until then, the 55 crimes that Parabon Nanolabs had solved using DNA data had all been sexual assault or murder.

 

To continue reading, go to Genetic Literacy Project, where this post first appeared.

 

I've become a stalker.

 

When I recently stopped at an intersection behind a car with bumper stickers "Make Abortion Criminal Again" and "Worship GOD, not GOV," I followed the offensive vehicle into the parking lot of Target. Out emerged an older white man who took no notice of me approaching, phone camera out.

 

I'm willing to bet that he never had to carry to term, in his body, a fetus known to have a severe chromosomal anomaly.

 

I'd bet that he was never forced to remain pregnant, give birth, and then watch the newborn die.

 

Yet the man in the Target lot, if those bumper stickers were indeed his, feels empowered to take the choice to abort this tragedy from women he doesn't know.

 

But I thank him for the lead-in to this blog post.

 

What's To Become of Prenatal Diagnosis?

 

I'm revising my human genetics textbook for a 13th edition, and I've hit a roadblock at this sentence:

 

"If a test reveals that a fetus has a serious medical condition, the genetic counselor discusses possible outcomes, treatment plans, and the option of ending the pregnancy."

 

I describe those prenatal tests in depth earlier, focusing on how testing fetal DNA in a woman's circulation is replacing the riskier amniocentesis and CVS. But I now have to add "possible" before "option."

 

To continue reading, go to my DNA Science blog at Public Library of Science, where this post first appeared.

On May 21, Abeona Therapeutics announced the go-ahead from the Food and Drug Administration (FDA) for a clinical trial to test a gene therapy for a form of Batten disease called CLN1 disease, aka infantile neuronal ceroid lipofuscinosis. The King family and their organization Taylor's Tale has supported the research that made the clinical trial possible since their beloved Taylor was diagnosed at age 7 in 2006.

 

The eight forms of Batten disease are ultrarare – together they account for only 1 in 100,000 individuals. Each is caused by mutation in a different gene, but all cause neurodegeneration. The conditions were originally named for what was thought to be the typical age of onset, before much was known about the genetics or the natural histories. CLN1 is now recognized to manifest in infancy, late infancy, and in children (juvenile), and Taylor had the juvenile form.

 

CLN1 is the classic "infantile" form. But Taylor King was no longer an infant when she experienced the first subtle sign, a new difficulty with numbers in the first grade. Taylor had taught herself to read at age three.

 

"There were signs of the secret hiding in Taylor's genes even then, but they were too complex and too twisted for any of us to understand," wrote her sister Laura in her book Run to the Light, which I reviewed here.

 

To continue reading, go to my DNA Science blog for Public Library of Science, where this post first appeared.

 

 

 

Burger King is going to sell the Impossible Burger and McDonalds is soon to follow with its own meatless patty. So I thought I'd check out the brilliantly-branded burger, both in the patent and on my plate.

 

A Variation on the Heme Theme

 

My first encounter with the Impossible Burger was pinching a piece off my dinner companion's plate in February. It looked and seemed to bleed like a real burger. As I chewed, I googled the product on my phone, stopping at the word "heme."

 

Gulp.

 

I stopped chewing. Once I got past the image of a bovine muscle pulsating on the plate, I envisioned the iron atom within its porphyrin ring, both lying within a surrounding globular protein, a little like a tootsie roll pop.

 

Heme in various guises is found in all species, from bacteria to beans to buffalos. It's at the heart of the myoglobin in our muscles and the hemoglobin in our blood, packed most densely into the muscle cells of beef cattle.

 

To continue reading, go to my DNA Science DNA Science blog at Public Library of Science.

Many treatments for rare diseases begin with families who work tirelessly, sometimes for decades, to fund the initial studies leading to the clinic. For X-linked myotubular myopathy (MTM), an amazing couple and their brave and brilliant son; a team of geneticists, physicians, and veterinarians; and some incredible dogs lie behind the encouraging interim findings presented at the recent American Society of Gene and Cell Therapy annual meeting in Washington, DC.

 

Several boys who were barely able to move and were completely dependent on ventilators are now eating, making sounds and walking with assistance, while the protein their bodies had been unable to manufacture is accumulating in their muscle cells. Audentes Therapeutics presented the results at a Presidential Symposium that highlighted several strides during the past year against rare neuromuscular diseases, including muscular dystrophies and spinal muscular atrophy. The interim data for MTM are here.

 

To continue reading, go to Genetic Literacy Project, where this article first appeared.

 

 

Fleshing out the details of ancient humanity has typically begun with fossil finds and then, years later, sequencing genes and genomes. That was the case for Neanderthals, but now the reverse has happened for the Denisovans.

 

A new paper in Nature describes a partial upper jawbone from a Denisovan who lived 160,000 years ago. It was discovered quite far from the known home of these archaic humans in Siberia, in Baishiya Karst Cave in Xiahe, China, on the Tibetan Plateau.

 

The partial jawbone is the oldest human fossil from the area. It's existence indicates that ancestors of today's Sherpa from 10,000 or so years ago weren't the first to be able to survive at high-altitude, low-oxygen environments, as had been thought.

 

To continue reading go to DNA Science, where this post first appeared.

 

 

 

 

 

 

An academic bioethicist has published a controversial paper supporting the rights of sperm and egg donors to remain anonymous over the rights of their offspring to learn donor identities.

 

"Genetic databases and the future of donor anonymity" appears in the journal Human Reproduction. The author is Guido Pennings, from the department of philosophy and moral science at the Bioethics Institute Ghent. My opinion is that Dr. Pennings' opinion fails to capture the complexity of donation.

 

"Not Parent Expected"

From 1950 until 1958, a man whom I do not know donated his sperm to help infertile couples in Brooklyn. As a result, my sister and I have, at last count, six half-siblings.

 

To continue reading go to Genetic Literacy Project, where this post first appeared.