Canavan Disease

The highly peculiar look of the head with a nearly football shape to the upper skull, long from front to  back makes for easy recognition of the advanced cases of Canavan Disease. It is the early presentation usually before 8 weeks old that must differentiated.

Hypotonia with decreased visual contact or use,  with eyes that jiggle side to side and a rapidly expanding head size lead to neurologic studies. Meanwhile spastic muscle tone begins and progresses very severely. Studies show rapid loss of white  matter of the brain. A defect in N-acetyl aspartic acid metabolism (with excess in the urine) is associated with failure of myelin - a lipid that wraps around much of the neural structures so that they  can work properly. This disease is relentlessly progresive.

Having said that, we have two patients, sister and brother, who are exact genetic matches for this syndrome with an extensive family pedigree all genetically tested. What is amazing is that both children only showed some early low tone and maybe a bit of ataxia signs, but who are developing as two quite normal looking and healthy kids.  ???  There has got to be another factor than just the one listed above to explain this.

Will it turn out that there has to be other permissive genes as is seen in some other odd genetic conditions?

Canavan's has become a news item despite its rarity. Can researchers patent what they find while doing supported research? To me, you can't patent, Jupiter, or knowing about it. Maybe a kind of telescope. Not the looking or knowing. So genes are like Jupiter. They're there. Only God or nature can claim the patent (kind of expired, huh?). At the hub of patent dispute, in my opinion, is that a patent is LAW. LAW is the power of the people, we the people, deciding to stand behind an idea. Why would - we the people - waste our time and court money unless WE get something in return. ANY patent which returns no benefits to the people (actual, tangible) deserves no granting of such protection. We offer legal protection - for a price - our benefit. A patent is granted - law is placed behind an idea --- SO THAT - we the people may benefit. Some patents just don't pass the "SO THAT" smell test. Patents, spawned en mass with no inkling of intent to produce, ought to be dismissed as ideas not offered in the public interest and therefore outside the interests of our law. Don't want to actually make it available? Hire the Mafia to protect it. Otherwise, make it available.