Ricki Lewis

In 2019, I wrote about how sequencing the genomes of newborns might compromise their privacy if genetic information was not adequately protected as they grew up. Now five years later, researchers are recognizing a perhaps unexpected benefit of newborn DNA analysis – explaining seemingly unrelated symptoms in relatives.

Newborn Screening for Metabolites, not DNA

Screening newborns for telltale molecules other than DNA has been around for decades. Blood from a heel prick shortly after birth is tested for various molecules (metabolites) that serve as biomarkers of specific conditions.

The Recommended Uniform Screening Panel (RUSP) tests for 61 disorders. The list varies by state (see Baby's First Test). Illinois tests for 57 conditions, for example, and California for 80. Separate programs have expanded the RUSP over the years.

The goal of newborn screening is to identify "actionable" conditions early enough to prevent or treat symptoms. But some people see newborn screening as creating "patients-in-waiting," causing anxiety among new parents.

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

During the pandemic, we turned to our leaders for updates on the rapidly worsening, unprecedented situation.

As days turned to weeks, and the sick lined up outside city hospitals, we craved information. But much of it was in the unfamiliar language of virology and immunology, public health and epidemiology.

In those early days, politicians and government officials who'd never heard terms like "cytokine storm" and "RNA virus" were suddenly charged with explaining what was happening. Thankfully, informed voices emerged. Experts regularly held zooms with science journalists, providing technical updates that we used to inform our articles, blog posts, podcasts, and other means of communication.

"Do Your Own Research" Fuels Science Illiteracy

COVID reawakened the mantra DYOR: do your own research. According to AI, it isn't new:

"The phrase 'do your own research' seems ubiquitous these days, often by those who don't accept 'mainstream' science (or news), conspiracy theorists, and many who fashion themselves as independent thinkers. On its face it seems legit. What can be wrong with wanting to seek out information and make up your own mind?'"

But doing "research" by choosing what to read, watch, or listen to, is not at all the same as the research that scientists do. We don't pay attention only to the data that support our hypotheses – science is more about rejecting hypotheses, thinking more, and devising new experiments to investigate something in nature. Science is about data, not "content."

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

October is Niemann-Pick Awareness Month. FDA approved a treatment for type 3 of the ultra-rare genetic disease September 20. The quest has been ongoing for three decades, said Laurie Turner, Family Services Manager of the National Niemann-Pick Disease Foundation.

Miplyffa (arimoclomol), an oral drug taken three times a day, is prescribed for patients with Niemann-Pick disease type 3, aka NPD3, two years of age and older.

NPD3 typically begins with enlarged liver and spleen and progresses to neurological symptoms. Average length of life is 13 years.

"Impacts on patients and families are enormous," said Janet Maynard, director of the Office of Rare Diseases, Pediatrics, Urologic and Reproductive Medicine at FDA's Center for Drug Evaluation and Research. "Despite extensive research efforts, there have not been approved treatments to meet the significant needs of patients. The first-ever approval of a safe and effective drug option will undoubtedly support the essential medical needs of those suffering."

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

Thanks to biotechnology, immunotherapy has become standard of care along many a cancer patient's journey, with many targeted drugs now available. One of the oldest and most successful immunotherapies is simpler: a tamed version of a classic vaccine, against the infectious disease tuberculosis (TB).

"BCG" is the "treatment" vaccine's technical name, for Mycobacterium bovis Bacillus Calmette-Guérin. Oncologists have used BCG to treat early stage bladder cancer for decades.

A research team led by Rita Fior at the Champalimaud Centre for the Unknown, Lisbon, Portugal, figured out how BCG decimates cancer cells. Their report appears in Disease Models and Mechanisms. First author is Mayra Martínez-López, who was a PhD student at the lab and is now at the Universidad de las Américas in Quito, Ecuador.

Immunotherapy Began with Coley's Toxins

Retooling vaccines to kill cancer cells is a classic tale in the history of medicine.

Since discovering my first fossils in a stream behind the Baseball Hall of Fame in Cooperstown, New York, when I was 10, I've been fascinated with clues to past life. I was so excited to find what turned out to be worm borings that my mother trekked me up to a researcher at the American Museum of Natural History, who took the time to identify my specimens. And the next day, I wrote an essay in class about wanting to become an invertebrate paleontologist, flummoxing the poor teacher charged with encouraging a budding nerd.

I still have those fossils, nestled in compartments I built into a tattered yellow cigar box.

I didn't grow up to become an invertebrate paleontologist, but a geneticist. And discovering the DNA sequence of a novel genome intrigues me in much the same way as those ancient worm borings did, but it's even more telling, because genetic information reveals clues to the past and connects the ancient species to their modern descendants. Evolution.

That's why a recent report in Science Advances captured my attention: "A nuclear genome assembly of an extinct flightless bird, the little bush moa."

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

A diagnosis of stage IV cancer used to mark the beginning of the end. Today for many patients, it is the beginning of taking a series of drugs that specifically target the errant cells by blocking the signals that fuel their runaway cell division, while sparing healthy cells. Stage IV cancer patients can live years, even decades, sometimes succumbing to something else.

Now there's hope even for patients whose cancers become resistant to targeted drugs – using artificial intelligence to probe cancer cells and their surroundings to identify novel points of vulnerability. Researchers from Harvard Medical School describe a new ChatGPT-like model that can guide clinical decision-making to diagnose, treat, and predict survival for several types of cancer. Their report appears in Nature.

The new approach complements targeted drugs by going beyond a cancer cell's surface and biochemical pathways within, to also probe the microenvironment – the immediate surroundings – through image analysis. If deployed early, AI might identify drugs unlikely to work more effectively than can genetic and genomic testing. It is a "can't see the forest for the trees" strategy, revealing the landscape of a cancer.

A Brief History of Targeted Cancer Drugs

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

I eagerly awaited publication of the novel Eruption, the brainchild of the late, great Michael Crichton and James Patterson, a master storyteller whose trademark staccato sentences and short chapters propel his thrillers. Crichton authored 28 novels, Patterson more than 200.

The Associated Press deemed Eruption "a seismic publishing event." Proclaimed BookBub, "an "instant #1 New York Times bestseller was in the cards the moment James Patterson agreed to complete Michael Crichton's partial manuscript!"

I can't wait for the film. But the book has a glitch in a genetic explanation. It might seem minor, just a few pages, but the entire subplot of a nefarious government cover-up of a biotech disaster unfurls from it.

A Spectacular Hybrid

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

Angelman and Prader-Willi syndromes are intriguing related conditions. Each arises from missing the same small section of chromosome 15, but one develops if the gap comes from the female parent, the other if it comes from the male.

A Peculiar Pair of Disorders

Prader-Willi syndrome is the more distinctive, and therefore more likely to make headlines.

A newborn with Prader-Willi is small and struggles to put on weight. A toddler becomes obsessed with eating as metabolism slows precipitously. Frantic parents lock kitchen cabinets, garbage cans, and refrigerators to keep their children from eating until their digestive organs burst.

The brain's hypothalamus malfunctions and can't regulate appetite, and so children can't sense when they are full. Plus, their stomachs do not empty quickly enough. The unremitting hunger becomes life-threatening.

In contrast, a child with Angelman syndrome has autism spectrum disorder and intellectual disability, an extended tongue, large jaw, poor coordination, and convulsions that make the arms flap. The distinctive facial features led Harry Angelman, when he described the condition in 1962, to call affected individuals "puppet children." In 1982 "Angelman syndrome" replaced the derogatory puppet comparison.

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

On Call, Dr. Anthony Fauci's memoir, is a riveting read that ricochets through infectious disease challenges since the early 1980s. It concludes with the most insidious of afflictions – the ignorance of how science works that led to threats to his life and the safety of his family during COVID.

Dr. Fauci has saved many millions of lives, as a physician-scientist for decades as well as through the legions of medical workers he's trained. And what a joy to read a memoir that the author clearly wrote! I loathe the politico tell-alls that are magically written, edited, and published in mere months, thanks to ghostwriters.

On Call was a trip back in time for me. It opens at the dawn of HIV/AIDS, just after I got my PhD in genetics and started my writing career. I've included links to some of my articles, where relevant.

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

Multiple spoiler alert! 

In the classic film Jurassic Park (JP), disasters unfurl at a theme park populated with dinosaurs cloned from reptile DNA in mosquitoes fossilized in amber, with modern frog DNA filling in gaps. 

Douglas Preston's new novel Extinction – really De-extinction — riffs on the 1993 Steven Speilberg epic, substituting in genetic material from a half dozen mammals from the Pleistocene, circa 2.58 million to 11,700 years ago. The animals were cloned from DNA in tiny, preserved ear bones, and doctored a bit. 

The resulting animals roam a resort nestled into the remote Colorado Rockies, thanks to biotech company Erebus. At sundown, guests gather at a panoramic window in the lodge's lobby to watch the behemoth herbivores wander to a stream, the mammoths especially beloved. 

But unlike Jurassic Park's out-of-control carnivores, the Ice Age bestiary boasts only mellow vegetarians: Irish elk, giant beavers and ground sloths, glyptodonts (armadillos), and woolly rhinoceri and mammoths. The rhino is about the size of a Trader Joe's! 

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