Last fall I posted on Ashkenazi Jewish genetic diseases, a number of inherited diseases that occur primarily in people of AJ descent (as a result of the “ founder effect “). AJ diseases are commonly known about within the AJ community, but many non-Jewish people are completely unaware of them.
As a result of carrier screening (the ability to test parents-to-be to see if they carry a mutation for the conditions), the actual rates of individuals affected with these disease is dropping. That’s the good news. That people who are appropriate for testing don’t know about testing is the bad news. (My rant on that will have to wait until next week, when the Week of Science challenge has ended)
So here’s the skinny on how these disease are inherited, why people are “silent” carriers, and why carrier testing works: