(credit: Jeremy Brooks)
With a deluge of DNA sequences pouring in from various studies, researchers diving in are finding that Mendelian genetics may be a lot muddier than expected. Wrinkled peas aside, certain bad mutations may not always be bad.
After sifting through the genetic codes of nearly 600,000 adults, researchers discovered that 13 of them were healthy despite carrying mutations that were thought to guarantee devastating childhood disorders, such as cystic fibrosis and those that cause severe skeletal malformations. The authors, led by Stephen Friend of the Icahn School of Medicine at Mount Sinai in New York, hypothesize that these 13 apparently normal adults have other genetic elements that compensate or buffer the effects of those mutations. If that’s true and researchers can pinpoint the source of their genetic resilience, the findings may offer critical information about how to cure these diseases in the not so genetically lucky, the authors report in Nature Biotechnology.
Most research in the past has focused on finding the cause of a disease, Friend said in a teleconference with media. But, he added, “finding the gene that is causing the disease is not the same as trying to find a way to prevent those symptoms.” A few years ago, he and a colleague came up with the idea of looking for cures not in the sick, but in people who should have gotten sick—people who look healthy and normal.
Read 8 remaining paragraphs | Comments
No comments:
Post a Comment