Monday, November 8, 2010

News About Gaucher Disease

Gaucher disease is one of those diseases that affects Jews at a greater rate than the general population. From the article linked to below: " In the general population, one person in 50,000 is affected by the disease. Among people genetically connected to the Ashkenazi Jewish population of central and eastern Europe, it's one person in 750. "


nmf #7 said...

Genetically speaking- Gaucher disease is a recessive disorder- therefore, both parents need to be carriers for the disease to manifest itself in a child.

Due to premarital genetic screening- one can eliminate the possibility of Gauchers (although it doesn't eliminate producing more children who are carriers and who would also need to be tested when of marriageble age) in one's family.

And, as in all research, just because an animal model accurately represents some aspects of the disease, doesn't mean that it is a full model, or even correct. (Many times it is, though.) Research is 1 step forward, 2 steps back sometimes.

I still believe that genetic screening would be the best solution for this disease.

ProfK said...

nmf #7,
Yes, the pre-marital genetic screening is a big help, but that screening is not very widespread. Dror Yeshorim is mostly used only by the frum part of Klal, and not 100% there either. That leaves the majority of Jews getting married without the screening, and the disease and the carriers continue.

At least this latest study gives researchers more information to go further with. No, a cure is not imminent, but if you don't keep studying the disease no cure or elimination will be possible.

Relying on human behavior to control a disease can be iffy. We have measles vaccines available and children are supposed to be innoculated. Yet, measles is still relatively rampant world wide.

tesyaa said...

Research is very important. And NMF #7, even if Dor Yesharim were 100% effective at preventing defects, think about people who might never meet their match because they can't even meet.