Testing, Testing
So your state university signs a $7.8 million contract with the Simons Foundation to create a collection of genetic samples taken from blood, to “explore a new theory” of autism, as reported in the September 13th Star-Ledger. The new theory is about autism genetics and about spontaneous (de novo) mutations:
Under geneticist Michael Wigler of Cold Spring Harbor Laboratory in Long Island, NY, researchers studied families who have two or more autistic children and considered what the chances were for families whose first two children were autistic to have a third autistic child. Wigler and his research found that mothers spontaneously acquire genetic mutations that are specific for autism. While the mothers themselves do not have autism, there is a 50% chance that they will transit the autism-related mutations to their children. There are, therefore, families who are at a “low risk” to have an autistic child, and families who are “high risk” (in which the mother carries the mutations but does not show autistic symptoms).
I have been reflecting on these findings since hearing Wigler speak at the Eden Institute conference in June. While none of my relatives have an “official” diagnosis of autism, more than a few are distinctly quirky, NOS. I don’t have autism but suspect I must be in the 50% of mothers who carry “autism-related mutations,” and I suppose the study may provide more answers, or maybe, rather, further clues. As the state university in question is Rutgers University—-of recent football and bad fan fame, and concerning whose woman’s basketball team Don Imus said some things he might rather have not—-this study will be happening in my own backyard.
The Star-Ledger notes that “families with a single autistic child will be the focus of the study”—and that is indeed us. I’ll be curious what Rutgers’ Cell and DNA Repository in Piscataway will send out about the study; I’m always hesitant when it’s something that involves Charlie having his blood drawn. Decisions, decisions……
5 opinions for Testing, Testing
RAJ
Sep 14, 2007 at 9:28 am
Kristina;
Never in autism genetic research has so much been made of so little. The original study found copy number variations in some 12 out of 129 patients from single incidence families. They reported a much lower figure in multiple incidence families.
There are two major problems with the study since the majority of cases occur spontaneously, the parents themselves have no trace of autism which would render the entire concept of the broad autism phenotype as nothing more than psychobabble.
More importantly they found the highest rate of CNV’s in single incident families which raises serious questions about just how comprehensive this study actually was.
More recently the entire in depth decoding of a single healthy middle aged human has been decoded, an effort that took years and millions of dollars.
What they found was thousands of CNV’s in thousands of individual genes in this single healthy individual.
http://www.theglobeandmail.com/servlet/story/RTGAM.20070903.wgenemap0903/BNStory/Science/home
Kristina Chew, PhD
Sep 14, 2007 at 11:28 am
Thanks for the perspective—-there does seem to be a curious divide between what the study is about and what headlines are written up.
Casdok
Sep 14, 2007 at 12:19 pm
Interesting, but like you say isw it fair to put your child through the trauma of a blood test?
Have you decided yet?
Kristina Chew, PhD
Sep 14, 2007 at 12:28 pm
I need to find out more information, a lot more! And then think through how Charlie might deal with getting his blood drawn: It has been difficult for him in the past and I’ve no desire to add extra stress.
Regan
Apr 22, 2008 at 8:00 pm
I didn’t know quite where this should go, except that for me this was one of those “whooaa” stories; in that some of which may be assumed to be nurture in monozygous twins, may actually be nature and not requiring a de novo mutation (with some nurture on a selection basis described in the sidebar in the print version). Just thought it was interesting in describing some of the genotype/phenotype findings, copy duplications and deletions and suggestions of when this occurs in fetal development. Just more info when considering the results of twin studies.
Scientific American, April 3, 2008
Identical Twins’ Genes Are Not Identical
http://www.sciam.com/article.cfm?id=identical-twins-genes-are-not-identical
Based on,
Bruder, C.E.G, Piotrowski, A., et al. (2008). Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. The American Journal of Human Genetics, 82, 763-771.
ABSTRACT:
http://www.ajhg.org/AJHG/abstract/S0002-9297(08)00102-X
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