Autism's genetic roots examined in new government-funded study

Researchers at Harvard University and Children's Hospital Boston will sequence the genomes of at least 85 people diagnosed with autism in a bid to tease out the genetic basis for some cases of the neuropsychiatric disorder.

Funded by $4.5 million from the federal stimulus package, the study's broad outlines were unveiled Wednesday.

The study's first phase will focus on 85 autistic patients from the Middle East. All have a recessive form of the disease, and all are linked by common ancestry. Studying this unique population, researchers have already narrowed the hunt for the common genetic mutation they share to an area that represents just 1% of their genome.

The Boston researchers hope to extend their genomic analyses beyond the 85 Middle Easterners to include American families as they refine their gene-hunting techniques.  An "informatics" lab at Children's Hospital Boston will compare the genetic profiles culled from autistic subjects to stored genetic data on normal, healthy controls in order to find a needle -- or needles -- in a haystack: any genetic variations that might cause or boost the risk of autism.

Autism affects roughly one in 150 children, according to the Centers for Disease Control and Prevention. But many researchers and activists believe the disorder is becoming more prevalent, and the cause of that growth has sparked heated debate across the country. The condition frequently runs in families, and scientists consider it the most heritable of the neuropsychiatric disorders.

Still, studies of autism in the population find that genes can account for no more than 15% of the numbers of autism cases seen.  

The rest are as yet unexplained. Many argue that environmental exposures -- in particular, to preservatives used in certain vaccines -- are a key factor in the development of autism. But a wide range of comprehensive investigations has failed to find such a link.

-- Melissa Healy

Comments

[Maurine Meleck]

There is no such thing as a genetic epidemic. They need to stop wasting money on genetic studies and do an independent study of vaccinated vs unvaccinated chilren for once and all. These genetic studies will go on and on for years and accomplish nothing,
It is also not true that studies have not turned up a link between autism and environmental exposures. Investigations that show no link have been done mainly by the CDC, and other governmental agenices that have a big stake in the safety issue of vaccines and there are major conflicts of intererst.

[Allison]

Having had all of my son's genes run at Children's and they didn't find anything, I know that concentrating solely on genes is such a huge mistake. Many studies have come out on different evironmental influences of genes and gene regulation. Not enough environmental trigger research is being conducted. Viruses, vitamin D levels, heavy metals, bacteria, and other toxic chemicals can change the genetic regulations entirely. Putting so much money soley into genetics is only going to equate to a cat chasing it's own tail. Autism is not a neurophyciatric disorder, it's a neuroimmune, or immocompromised disorder involving the whole body, and multiple systems including the brain. A medical condition, not a mental condition and until mainstream medicine begins to understand this they will not be finding any medical treatments of value to those of us whose children desperately need them to. So please, stop chasing your tails, find out how and what environmental influences are changing expression and causing the neuro, multi system, inflammatory conditions these kids have and then figure how to fix their Medical condition brought on by those environmental triggers.

[Terry]

"But a wide range of comprehensive investigations has failed to find such a link".

Shouldn't this say," But a wide range of statistical manipulations, paid for by people associated with the vaccine program, failed to find such a link".

[Rob]

"The condition frequently runs in families, and scientists consider it the most heritable of the neuropsychiatric disorders."

This is certainly not true in my family nor in any of the many ASD-affected families I know. In all the literature I've read about ASD, I've never come across a claim like this.

Can you clarify?

[PEPPER]

I HOPE WE CAN CONTINUE RESEARCHING THIS DESEASE AND FIND A CURE SOON!! THIS IS AFFECTING MORE AND MORE PEOPLE EVERYDAY. OFTEN WHEN I AM IN A DOCTORS OFFICE OR THE GROCERY STORE I RUN INTO A PARENT OF AN AUTISTIC CHILD OR THEY HAVE SOMEONE IN THIER FAMILY THAT HAS IT. NEVER THE LESS THE #'S ARE GROWING RAPIDLY AND WE AS AMERICANS NEED TO EDUCATE OURSELVES AND REALIZE THAT WE HAVE A SERIOUS PROBLEM THAT IS AFFECTING OUR CHILDREN! WE MUST JOIN TOGETHER AND FIGHT FOR MORE RESEARCH FUNDS AND HELP FROM OUR GOVERMENT! LETS NOT JUST TURN THE CHEEK ON THESE CHILDREN, LETS HELP TO LIFT THEM UP AND GIVE THEM HOPE, OF A BETTER TOMORROW!

THIS COMMENT IS DEDICATED TO MY DAUGHTER KATELYNN AND MY NIECE MIRANDA WHO ARE BOTH AFFECTED BY THIS DESEASE. WE PRAY EVERYDAY IN HOPES THAT WE CAN FIND A CURE.

[PEPPER]

TO KATELYNN AND MIRANDA,

I PROMISE TO YOU THAT I WILL NEVER STOP FIGHTING FOR YOU, AND CONTINUE TO WRITE LETTERS IN HOPE OF SOMEONE FINDING A CURE! YOU ARE SO VERY SPECIAL AND I LOVE BOTH OF YOU VERY MUCH! I AM SO PROUD OF YOU'RE HARD WORK AT SCHOOL AND AT HOME! KEEP UP THE GOOD WORK ! YOU MAKE US ALL PROUD!!

XOXOXOXOOX
PEPPER

[Lisa Jo]

The numbers continue to rise, but it seems very unclear whether those numbers are truly representative of an increase in diagnosable versus diagnosed individuals.

If autism (as appears likely) is diagnosed in 1:100 individuals, are we experiencing an incredible epidemic in neurological problems, or instead are we seeing an insidious drop in our ability to tolerate differences in learning and communication styles?

I think the question is still wide open.

Lisa