Ricki Lewis

Nine-month-old KJ Muldoon made global headlines following a report in The New England Journal of Medicine, from Kiran Musunuru and Becca Ahrens-Nicklas and their team at Children's Hospital of Philadelphia and Penn Medicine. They used a highly precise form of CRISPR gene editing to correct a mutation – swapping out one DNA base for another – that lay behind the boy's inability to break down proteins in food.

Left unchecked, ammonia would have accumulated to toxic levels in KJ's bloodstream, which would have rapidly lead to organ failure and, ultimately, brain swelling and coma. He was hospitalized until he received the new treatment, kept on a very low protein diet.

The boy inherited one mutation from each parent, and so he couldn't produce a crucial enzyme, carbamoyl phosphate synthetase 1 (CPS-1 deficiency). The condition affects only 1 in 800,000 to 1,300,000 newborns, and it is quickly fatal in half of them.

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

It's odd for me, as a long-time author of college biology textbooks, to witness governments rule on the nature of biological sex, perpetuating an oversimplified, binary definition.

A recent edition of The Week, in "The World at a Glance," relates that Britain's Supreme Court has defined a biological female: "While trans people are protected from discrimination under the 2010 Equality Act, the categories of 'man' and 'woman' in that act must refer to 'biological sex' because any other definition would be 'incoherent and impracticable.'"

Ditto Hungary. A constitutional amendment officially recognizes only male and female, banning LGBTQ groups from holding public events. Prime Minister Viktor Organ claimed inspiration in his biological dictate by the US's recent take on sex determination and gender identity.

"DEFENDING WOMEN"
The US president proclaimed the basis of binary biological sex in the January 20 executive order DEFENDING WOMEN FROM GENDER IDEOLOGY EXTREMISM AND RESTORING BIOLOGICAL TRUTH TO THE FEDERAL GOVERNMENT – CAPS his. The statement conjures Captain Picard, in Star Trek Next Generation, uttering "make it so."

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

Next month, families affected by the rare genetic disease metachromatic leukodystrophy (MLD) will meet in Washington. They will be protesting the April 4 dissolution of the committee of experts that advises Health and Human Services (HHS) leadership on which conditions to include on the Recommended Uniform Screening Panel, aka the RUSP.

The List
RUSP is a state-by-state roster of up to 61 "actionable" metabolic conditions. If they are detected shortly after birth with a few drops of blood from the heel, treatment is possible. But it must begin ASAP.

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

The images of "de-extincted" fuzzy white dog-wolf pups festooning the media this week accompany reports that are so hyped that the technical feat is hidden in the hoopla.

Claimed the company, Colossal Biosciences:

"On October 1, 2024, for the first time in human history, Colossal successfully restored a once-eradicated species through the science of de-extinction. After a 10,000+ year absence, our team is proud to return the dire wolf to its rightful place in the ecosystem. Colossal's innovations in science, technology and conservation made it possible to accomplish something that's never been done before: the revival of a species from its longstanding population of zero."

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

Hitler's "final solution" attempted to strip the German population of Jewish people and others deemed not white. At the same time, the Lebensborn program sought to purify the Aryan gene pool and counter a plunging birthrate through "homes" where "hereditarily healthy" Aryan women conceived, carried, and bore the "racially valuable" children of SS men.

Adriana Allegri's debut novel The Sunflower House (St. Martin's Press, 2024) captures the slow-building horror that unfolded at the Hochland Home in Steinhöring, the first facility in the program.

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

When I heard that 23andMe had filed for bankruptcy, I wasn't alarmed, at first. I'd taken a test from the company, years after I did one for AncestryDNA at a genetics meeting – I hadn't even remembered taking that first test.

I knew 23andMe would someday be in trouble, despite the yearly blitz of ads at holiday time, because of the ephemeral value of their DNA tests – there wasn't a viable way to keep customers on the hook.

Privacy hadn't bothered me. If someone wanted to know my SNP (genetic marker) profile, or the fact that I have more Neanderthal DNA than most people, so be it. The company wasn't sequencing genomes, just identifying a few hundred thousand places in the genome where people vary in the DNA base – A, C, T, or G – a little like a map of state capitols rather than of all streets.

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

Measles virus has long occupied a top spot on a list of most dangerous pathogens, for in addition to spreading easily, it can temporarily cancel immunity against other infectious diseases. A powerful vaccine has vanquished measles since 1963, offering close-to-lifetime immunity. But the disease is returning, thanks to vaccine hesitancy and apparent lack of knowledge of basic biology.

I was too young to remember having measles. But my mother told me I was very sick for a month, and was a day away from being hospitalized for encephalitis when I finally began to improve.

Circa 1960, everyone got measles. In a room full of vulnerable individuals, some 90 percent will quickly become infected, as the virus wafts in droplets dispersed in the air, hanging around for up to two hours. Having the telltale spots, however, conferred lifelong immunity.

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

Consider two 70-year-olds.

Cliff seems slightly confused and forgetful, and has difficulty following conversations and instructions. Roxanne is always alert and leads conversations, bringing up new topics and easily adding details to other's ideas. They are the same age, yet far apart in cognition. Researchers call the difference between age in years and age in behavior and physical condition the brain age gap, or BAG.

Researchers in China have identified a set of genes that play a role in whether someone is a Cliff or a Roxanne. It measures the difference between an individual's predicted age, derived from machine learning models trained on magnetic resonance imaging (MRI) data, and chronological age. The confused Cliff has a bigger BAG than the alert Roxanne.

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

As memories of the COVID years fade, fears of a coming influenza pandemic are mounting, given recent transmission of H5N1 bird flu among cattle, cats, and a few people. A letter published today in Science from Jesse L. Goodman of Georgetown University Medical Center and colleagues warns us to "prepare now for a potential H5N1 pandemic."

"Strategies should build on experiences from seasonal influenza, COVID-19, and other outbreaks; use existing infrastructure; and engage those who will implement the programs. Immunization and communications planning must be integrated and engage affected communities, and planning must transcend political divisions," they write.

But efforts to continue development of mRNA-based bird flu vaccines are facing pushback from the new administration. Vaccine hesitancy may come to be its own epidemic.

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

Every year near the end of February, Rare Disease Day honors the 30 million people in the US who have 10,000+ rare medical conditions, and those who support them. Events bring the patient, scientific, regulatory, and clinical communities together, to share and discuss novel hypotheses, new data, tentative conclusions, and hands-on information about living with the diseases.

Exciting interactions arise at rare disease conferences, at local, national, and international levels.

According to the National Organization for Rare Disorders from 2023, "February 28 has grown into an essential annual celebration to engage the community, elevate the stories of patients and families, drive donations, and advance critical resources and innovative research for rare diseases. To learn more and find ways to get involved, visit rarediseaseday.us. Every year, February 28 is "A Day to be Heard."

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