June 29, 2012
BehindTheMedspeak: Tay-Sachs in the Irish
Long story short from Amy Dockser Marcus's June 25 Wall Street Journal article: Tay-Sachs disease — a rare, always fatal neurodegenerative disorder that hits fewer than 30 children in North America a year as a result of widespread testing of prospective parents to see if they are carriers — turns out to be much more common among the Irish than anyone knew.
About one in 50 people of Irish descent are believed to be carriers, compared to one in 30 Jews of Central and Eastern European descent and one in 300 individuals in the general population.
A new study to identify carriers of the disease among people of Irish ancesty has just been launched.
It aims to enroll 1,000 people with at least three of four grandparents of Irish ancestry.
"Adele Schneider, director of clinical genetics at Einstein Medical Center Philadelphia and principal investigator of the current research, says the study came together after she saw three families of Irish descent who all had children with Tay-Sachs in the past few years."
June 29, 2012 at 10:01 AM | Permalink
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Nothing funny about the disorder.
Posted by: 6.02*10^23 | Jul 9, 2012 2:14:02 AM
I deeply admire those parents for their efforts to get the word out to other families, even in their own grief. My husband and I were screened before having children because of a family in the same situation.
Posted by: Alex | Jul 8, 2012 7:25:35 PM
Just pure Mendellian genetics.
I don't think that monk was Irish, though.
Posted by: 6.02*10^23 | Jun 29, 2012 4:34:12 PM
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