The New York Times, March 15, 2018

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Gregor Mendel discovered fundamental rules of genetics by raising pea plants. He realized that hidden factors — we now know them to be genes — were passed down from parents to offspring.

It wasn’t until the early 1900s, long after Mendel’s death, that doctors discovered that humans weren’t so very different. Some diseases, it turns out, are inherited — they’re Mendelian.

Today, scientists have identified over 7,000 Mendelian diseases, and many are discovered with screenings of children and adults. But a new study suggests that many disorders go undetected.

Continue reading “What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds”

Tracing Diseases to Their Dawns

One of the great milestones of medicine, as I write in my new book She Has Her Mother’s Laugh, was the discovery that some diseases are inherited–even when the parents of sick children seem perfectly healthy.

These hereditary diseases, known as recessive disorders, manifest themselves when both copies of a gene carry a disabling mutation. They include cystic fibrosis and Tay-Sachs disease. But the most striking of them all is sickle cell anemia. An unusually high number of people in some parts of the world are carriers of the disease, because having a single copy of the sickle cell mutation can actually be good for your health. Continue reading “Friday’s Elk, March 10, 2018”

The New York Times, March 8, 2018

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Thousands of years ago, a special child was born in the Sahara. At the time, this was not a desert; it was a green belt of savannas, woodlands, lakes and rivers. Bands of hunter-gatherers thrived there, catching fish and spearing hippos.

A genetic mutation had altered the child’s hemoglobin, the molecule in red blood cells that ferries oxygen through the body. It was not harmful; there are two copies of every gene, and the child’s other hemoglobin gene was normal. The child survived, had a family and passed down the mutation to future generations.

Continue reading “How One Child’s Sickle Cell Mutation Helped Protect the World From Malaria”

The Importance of Clocks

In many branches of science, a good clock can make all the difference. The better we can determine how old things are and when events happened, the better we can put the pieces of history back together. It’s important to know that the universe started 13.73 billion years old, for example, and that the Earth is 4.56 billion years old.

There is no one clock to rule them all, though. Each science requires a clock of its own, and some of them require a whole wall of timepieces. For the universe, we have to use old light to tell time. For the Earth, certain radioactive elements like strontium have ticked away accurately since the planet’s formation. Continue reading “Friday’s Elk: February 25, 2018”

The New York Times, February 22, 2018

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It’s long been an insult to be called a Neanderthal. But the more these elusive, vanished people have been studied, the more respect they’ve gained among scientists.

On Thursday, a team of researchers offered compelling evidence that Neanderthals bore one of the chief hallmarks of mental sophistication: they could paint cave art. That talent suggests that Neanderthals could think in symbols and may have achieved other milestones not preserved in the fossil record.

“When you have symbols, then you have language,” said João Zilhão, an archaeologist at the University of Barcelona and co-author of the new study.

Continue reading “Neanderthals, the World’s First Misunderstood Artists”