Communities of Mutants Form as DNA Testing Grows

GeneRegulator writes "The NY Times is running a story on communities that are forming around kids with rare genetic mutations. New technology that can scan chromosomes for small errors is being applied first to children with autism and other 'unexplained developmental delays.' It turns out that many of them have small deletions or duplications of DNA. Meanwhile, hundreds of little groups are forming around the banner of their children's shared mutations. As new research shows that many of us have small deletions and duplications of DNA that separate us from our parents, and that many of these "copy number variants" contribute to skills and senses, the families described in the story may presage the formation of all sorts of 'communities of the genetically rare' in the general population, not just amongst the developmentally delayed."

Comments

Handedness

[CRCulver]

I've often heard left-handedness attributed to development conditions in the womb, but is it suspected to be one of these random DNA mutations, or to some higher-level effect on the brain?

Re:Please help out

[The Ultimate Fartkno]

Myminicity links should get ip-banned.

Stealth myminicity links should have their ip published so nerds with free time and anger issues could track the poster down and punch them in the balls.

This isn't anything new

[DebateG]

Support groups for families and children with rare diseases have been around for decades. Whether someone in your family has Rett sydnrome, Glanzmann's thrombasthenia, or Schwachman Diamond Syndrome, you can find other people who are in a similar situation. There interesting thing here is that doctors are identifying new chromosomal abnormalities and sub-classifying people whose diseases were previously under an umbrella of ambiguous terms such as "autism." This is a good thing, because these diseases are most certainly heterogeneous at the molecular level and probably manifest themselves in subtlety different ways that aren't obvious when there are only four or five cases ever described. Unfortunately, the treatments for them rarely takes into account the underlying genetic cause, and advocacy and support groups such as these can better inform doctors and researchers about these rare diseases.

Re:That's all well and good ...

[i.of.the.storm]

Haha funny. Hmm, slashdot should have some sort of mini-moderation whereby you can mod people up by 0.01 if you don't have a modpoint, to increase the precision of moderation.