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Hey cousin, how you feeling? How the human genome transformed study of rare diseases
BLUF:[Nature] Our improved understanding of Mendelian diseases has also begun to benefit people with common diseases that have more-complex genetic underpinnings. For example, a 2020 sequencing study7 revealed that, for a small but significant fraction of people who have common diseases, a single genetic variant is the cause — that is, they have a Mendelian form of the disease. And aside from causation, genes associated with Mendelian disorders have been found to be risk factors for many common diseases12. New therapeutics for common diseases are being informed purely by human genomics, and Mendelian genes play no small part in that13. The medical genetics community has often been accused of making empty promises14. But genomics is now truly improving people’s health. This is not just a vindication but also an inspiration to continue rewriting medicine using our DNA. Posted by: Besoeker 2021-02-18 |
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