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Superhero Genes May Protect Some From Illness05:34
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Most of us have heard the saying that "genes are not destiny," because environment plays a big role too in making us who we are. But there are a few genetic disorders that are so powerful, they can change our destiny, no matter the other factors.

These are called Mendelian disorders and include diseases like sickle-cell anemia, Tay-Sachs, and cystic fibrosis. A mutation in a single gene can cause these conditions, and once you have the mutation, you're destined to have the disease.

Or so we thought.

It turns out that for a rare few, a superhero-like gene may be hiding among their DNA, protecting them from what we have assumed was certain illness.

Guest

Carey Goldberg, co-host of WBUR’s CommonHealth blog. She tweets at @commonhealth.

More

CommonHealth: ‘Genetic Superheroes’: Rare Exceptions Resist Mutations Thought To Be Disease Destiny

  • "What does it mean that [Dr. Rong] Chen and colleagues studied a half-million individuals and found that 13 of them appeared to be quite resistant to a set of mutations that, in the textbook, are said to be absolutely disease-causing? Is this the new fountain of youth? The new disease barrier? Who are these superheroes? And what does it tell us about our medicine, as practiced today, and about our biology?"

Nature Biotechnology: Analysis Of 589,306 Genomes Identifies Individuals Resilient To Severe Mendelian Childhood Diseases

  • "The identification of resilient individuals may provide a first step toward uncovering protective genetic variants that could help elucidate the mechanisms of Mendelian diseases and new therapeutic strategies."
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