The increasing number of kids diagnosed with Autismhas really been a mystery. It is a heartbreaking issue for kids and families. It has implications in the educational and medical system, and it will for years and years to come.
The human genome project has provided us with a lot of new tools and a lot of new flashlights to look around with. And today a major study has some important findings.
I wanted to alert people to this study--I know there are families here who need some answers.
Just browsing the local newspaper I saw this:
Boston researchers find genetic trigger for 1 percent of autism
....The discovery, reported on-line in the New England Journal of Medicine this afternoon, stems from the most extensive genome scanning for autism done so far. The scans found that in just over 1 percent of people with autism, a chunk of about 25 genes had been either duplicated or deleted, mainly in spontaneous mutations not carried by their parents....
It caught my eye because I'm in the genomics field. But also because I have met the lead researcher--I saw him give a talk on how this kind of work is done. He's a teacher, a scholar, and I'm glad to see this team making these kinds of breakthroughs.
Here is a link to the actual study at the New England Journal of Medicine:
Association between Microdeletion and Microduplication at 16p11.2 and Autism
It appears that there is a section of chromosome 16 that is missing in some kids, and duplicated in other kids. It is a big chunk with a lot of genes. But it is great to have some leads on this problem. This is not a cure--but if it turns out to be the issue, at least we'll have a place to focus on.
It is in a small percentage of the families--this won't be the answer for everyone. But I hope this work will help us make progress in understanding and treatment someday.
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Now here's where I get political. This work is in a direct line from the funding of the major Human Genome Project. Big government spending. And absolutely crucial to move us forward as a society. We need to fund science, and we need to train scientists.
Another thing we need is protection from our genes. Louise Slaughter has been working really hard to try to get us protection from employers and insurers who will poke around our DNA looking for stuff like this--and she has come by to update us and ask for our help. And we are just at the beginning of making these kinds of links between the genes and the health effects. You do not want this information in the hands of the wrong people. Next time Rep. Slaughter comes here asking for help in passing this legislation called GINA, or the Genetic Information Non-discrimination Act, please help her out. Thugs in the Senate have been blocking this. It matters.