Ricki Lewis

The journey of naming an odd collection of symptoms is called, for good reason, the diagnostic odyssey. It can take years for gateway health care providers and then sequences of siloed specialists to synthesize clinical findings and a family's observations into a diagnosis.

Consider Hannah's Sames' journey. Hannah had gene therapy for giant axonal neuropathy in 2016, and I tell her story in my book The Forever Fix: Gene Therapy and the Boy Who Saved It. Hannah was diagnosed at age 3; she just attended her junior prom!

The first sign of Hannah's condition, in retrospect, was her tight curls, the consequence of buildup of an abnormal protein, gigaxonin. The second sign was her odd gait as a toddler. A pediatrician, orthopedist, and podiatrist had no idea that the feathery filaments of abnormal gigaxonin were already distorting the motor neurons whose axons stretched down the little girl's legs.

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

The public has had a crash course in virology. But sometimes media coverage spews jargon so fast, often without definitions or descriptions, that I wonder to what degree readers or viewers know what terms like antibody, cytokine, or mRNA actually mean.

"Variant" is especially problematical, when coming after "viral," because it has a plain language meaning too – variation on a theme, something just a little bit different from what we're used to. But during an epidemic, a small genetic change can have sweeping consequences, fueling a pandemic.

Mutations Build Variants

Variants of SARS-CoV-2 – the COVID virus – are sets of mutations. A mutation is a specific change in a specific gene.

Different variants have some mutations in common, so it can get confusing. For example, three variants circulating in India each has 6 or 7 mutations, three in common. The first and second variants that were discovered each has a unique mutation, but the third variant is a subset of parts of the first two. Got that?

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

Before COVID, reports of a new bird flu trickling or even sweeping out of Asia didn't garner much attention. That's certainly changed. So when two members of the China Novel Coronavirus Investigating and Research Team, who co-authored the first warning of what was to come in February 2020 in The New England Journal of Medicine, sound a new alarm, maybe we should listen.

In a short Insights Perspective published in Science, "Emerging H5N8 avian influenza viruses," Weifeng Shi and George Gao make the case for concern that a bird flu now in more than 46 countries across Europe, Asia, and Africa has jumped to humans. Only seven poultry farm workers in Russia were reported to have gotten sick, while trying to contain an outbreak among their feathered charges. But there must have been a time, in the fall of 2019, when COVID, too, had sickened only a few people.

An avian influenza virus would need to pass easily from person-to-person to seed a pandemic in people, like SARS-CoV-2 does. That's unlikely, but as we've learned, not impossible.

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

We're obsessed with aging. 

In the quest to prolong life while remaining healthy, people have tried everything from turtle soup to owl meat to drinking human blood.

Russian-French microbiologist and Nobel Prize winner Ilya Mechnikov believed that a person could live 150 years with the help of a steady diet of milk cultured with bacteria. (He died at 71.)

It's a favorite topic of Hollywood. From Cocoon to Death Becomes Her to Chronos, the quest to extend our limited time on this planet has been a favorite focus of science fiction. Now it's edging closer to science fact.

A new report in Nature Communications from researchers at artificial intelligence company GERO.AI indeed points to a maximal human lifespan of 150. And they've pioneered a metric that might one day pop up on a smartphone to indicate an individual's state of aging – something more meaningful, in terms of future health, than counting gray hairs or celebrating birthdays.

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