RE: Autism Genome Project Published Today

[Guest guest]

" It was confirmed autism risk genes are rare variants in our genome

> that occur very infrequently "

...I wonder how rare and how infrequently to explain 1 in 91?

Kristy Nardini

TazziniTM Stainless Steel Bottles

<http://www.tazzini.com/> http://www.tazzini.com

kristy@...

Phone: 858.243.1929

Fax: 858.724.1418

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From: [mailto: ] On Behalf Of Kristy

Nardini

Sent: Thursday, June 10, 2010 9:53 PM

kristy@...

Subject: Autism Genome Project Published Today

Thoughts?

http://ht.ly/17GXlC

Excerpt:

Fast forward to this week when the AGP published the largest and most

comprehensive study of copy number variations (CNV) - small deletions or

duplications in our genome that can disrupt gene function - in autism

families. By comparing CNV found in 1,000 individuals with autism with those

from 1,300 individuals without autism, the AGP reported that:

* Several novel ASD genes were discovered, and many genes previously

implicated by other studies were confirmed. Some of these genes are involved

with communication between neurons, while others help regulate cell growth

and how they respond to environmental stimuli.

* It was confirmed autism risk genes are rare variants in our genome

that occur very infrequently or not at all in the general population and

each person with ASD may have a unique risk gene or set of risk genes. Some

of these genes are " highly penetrant " meaning that, if you carry this risk

gene, you very likely will develop ASD, whereas other only raise the risk

for ASD and need to combine with other genetic and/or environmental risk

factors to cause ASD. Some of these are inherited, but many appear " de novo "

meaning that they only exist in the child and not the parents.

* In the not-so-distant future, we will start to see more

comprehensive genetic testing being conducted in the clinic to provide

parents with information about whether their child may be at risk for ASD,

so they can watch for signs, or to help better understand the cause of their

child's ASD. It will be important to consider carefully what tests are

appropriate and interpret them in a manner that is responsible and helpful

for parents.

* Although the fact that so many rare genes can be related to risk for

autism seems to form an overwhelmingly complex picture of autism, there is a

path forward: These genes appear to cluster around specific biochemical

pathways in the brain and, thus, point to new directions for developing drug

that could potentially help recover function of these pathways. This is good

news for families.

Kristy Nardini

TazziniTM Stainless Steel Bottles

http://www.tazzini.com <http://www.tazzini.com/>

kristy@... <mailto:kristy%40tazzini.com>

Phone: 858.243.1929

Fax: 858.724.1418

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