Science Can Learn Much from Outliers "Who Are Naturally Different"
(p. 1) Abby Solomon suffers from a one-in-a-billion genetic syndrome: After just about an hour without food, she begins to starve. She sleeps in snatches. In her dreams she gorges on French fries. But as soon as she wakes up and nibbles a few bites, she feels full, so she ends up consuming very few calories. At 5 feet 10 inches tall, she weighs 99 pounds.
Now 21 years old, she is one of the few people in the world to survive into adulthood with neonatal progeroid syndrome, a condition that results from damage to the FBN1 gene.
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(p. 6) Dr. Chopra told me that, as far as medical science is concerned, Abby Solomon is worth thousands of the rest of us.
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"Nothing comes close to starting with people who are naturally different," he said. This is why he searches out patients at the extreme ends of the spectrum -- those who are wired to weigh 80 pounds or 380 pounds. He said, "We have the opportunity to help a bigger swath of humanity when we learn from these outliers."
In 2013, after hearing about Ms. Solomon's unusual condition from another patient, he asked her to visit his clinic. Ms. Solomon warned him that she would be able to carry on a conversation for only 15 minutes before she needed to snack on chips or a cookie. That remark inspired a revelation. Dr. Chopra realized that "she had to eat small, sugary meals all day to stay alive, because her body was constantly running out of glucose," he said.
The clue led Dr. Chopra and his colleagues to their discovery of the blood-sugar-regulating hormone, which they named asprosin. Ms. Solomon's natural asprosin deficiency keeps her on the brink of starvation, but Dr. Chopra's hope is that an artificial compound that blocks asprosin could be used as a treatment for obesity. He and his team have already tested such a compound on mice, and found that it can reverse insulin resistance and weight gain.
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(Note: the online version of the commentary has the date NOV. 25, 2016.)