Mad Scientist Visits Down Home Ranch!

OK, so Dr. Michael Harpold is not really a mad scientist, but when Annette asked what he was like I did respond with, “Think Back to the Future.”

Michael is the Chief Scientific Officer of the Down Syndrome Research and Treatment Foundation.  Jerry and I met him in Kansas City at the annual convention of the National Down Syndrome Congress.

Jerry and I have decided to dedicate our remaining years in the service of funding for research that will discover ways to effectively treat the cognitive effects of Down syndrome, which is the leading chromosomal cause of intellectual disabilities.

Down syndrome research is show to get going compared to other diseases and syndromes, and receives a ludicrously small percentage of the funding for research into such conditions. One reason for this is that while a single gene might be implicated in the problems caused by some other syndrome, when you have an entire extra chromosome to deal with things get out of hand very quickly.  Not only are there all those genes that make up chromosome #21 to investigate and deal with, they interact with one another in potentially infinite configurations.

Whatever, that's where we are, but the good news is that today we have the computing power to actually begin to deal with that kind of complexity.

Last Wednesday we invited some interested friends to join us in a tour of Dr. Jon Pierce-Shimomura's lab at UT/Austin.  We all have kids with Down syndorme, including Jon, and we're all racing the clock–the younger parents anxious to avoid the increasingingly debilitating effects of Trisomy 21, we older parents nervously facing our children's middle age, over which the spectre of Alzheimer's looms.

Jon's boy is now 10, and Jon is unhesitatingly enthusiastic about the prospect of finding a treatment that significantly impacts the effects of Down syndrome.  What's not to be enthusiastic about? You may wonder.

Well, it's complicated.  I myself am leery of unintended consequences, which wouldn't be known until the treatment had worked.  And I'm not just talking side effects.

If, we hoped, we were able to add 15 IQ points to a person with Downs, that would put him or her right below the