The Montreal Children's Hospital of the MUHC begins search for causes of autism

[dyslimbic]

http://www.eurekalert.org/pub_releases/2008-05/muhc-tmc050708.php


Contact: Isabelle Kling
isabelle.kling@muhc.mcgill.ca
514-843-1560
McGill University Health Centre
The Montreal Children's Hospital of the MUHC begins search for causes of autism
International effort considered groundbreaking

This release is available in French.

Montreal, 7 May 2008 – Dr. Eric Fombonne, from the Research Institute of the MUHC at the Montreal Children’s Hospital, is involved in a multi-site consortium to gather DNA samples from 2,000 autism patients and their families over the next three years.

The Simons Simplex Collection (SSC) is a coordinated effort to create a database of genetic and behavioral information about cases where there is only one family member with autism. This group, which represents the great majority of autism spectrum disorders, Is expected to lead to the discovery of new genetic factors that increase the risk of autism.

In addition, this database will be accessible online by the scientific community and will represent an invaluable tool for future research projects.

“This database will link state-of-the-art genetic analysis to very detailed behavioral assessments. This is an unprecedented project that could greatly enhance our understanding of underlying biological processes,” explains Dr. Fombonne. “This is an important step towards the unraveling of genetic mechanisms and understanding the pathophysiology of this disorder of brain development.”

Families are currently being recruited to participate in an initial assessment and then may be invited to participate in other research projects as work continues. Those eligible to participate are families with only one child with an autism spectrum disorder (ASD) who is four years of age or older; with one or more siblings without an ASD, age four or older; and biological parents without an ASD and who are willing to participate. Eligible children with an ASD will receive a behavioral assessment and all family members will donate blood, a source of DNA. A small number of families with no siblings or siblings under the age of four may be eligible to participate in the study.

“The MUHC is committed to recruiting 200 families by the end of 2009. This represents an important challenge, but being the only centre in Canada we hope to be able to attract the required number of English speaking patients,” says Dr. Fombonne.

[Kristen (ColeysMom)]

OMG! That sounds SO awesome!

I can't imagine that they will have trouble getting the required number of families...I'd think they'd have to turn people away.

[Isabelle]

ugh! my cover is blown...i've researching 'autism' for 30 years !!! :p
he is a psychiatrist, oh, he will search the genome until he find the gene/s for "autism" or die in the effort and then he has to answer to the big question what made our genes so sick?
my opinion... a waste of money and resources.
if it possible they should study a way to make vaccines effective and safe, but that's way too complicated to think of for money makers manufacturers.
if they eliminate every infection off earth, would the doctors be happy? some, perhaps.
so, what if vaccines created a few hundred chronic conditions that keep them busily happy and when they do not understand them is dumped as "psychiatric" and that besides the hundreds made up in the DSM-IV book ...what's the name given to the morgellon disease... "paranoia parasitosis" ????:(:rolleyes:

[Kristen (ColeysMom)]

Isabelle, I know you have good reason to be pessimistic, but try to look here at the positive. Before any progress can be made they must first identify what is broken.

It won't just stop at: ok, here we found the gene that's causing all the problems...

The obvious next step is how to fix it, or preventing it from breaking to begin with. THAT is where things will get really interesting!

Start praying that they get LOADS of response and find it FAST!

Who knows they may even determine that there is no single gene (or even small subset), that would make the whole process a dud! It may be that it's all a perfect storm scenario that they cannot replicate in a lab, like that genes have little to do with it, and it's all about health status, age, immunity state, plus other 'insults'...that would be SCARY!

[Isabelle]

Isabelle, I know you have good reason to be pessimistic, but try to look here at the positive. Before any progress can be made they must first identify what is broken.

what if they want to keep it broken until they made themselves rich and retired?

ok, let's suppose they found the gene/s what's next?
i tell you, social worker will say to you and to your husband "do not have more children, tie your tubes, you have bad genes, don't be a burden to society"....we were told that, not exactly in those words.

cure for defective genes? i strongly doubt it that will ever be happening.

best is prevention, clean our planet, let's clean ourselves, let's get our body to heal itself. it has been proven that toxins or whatever affects our genes and once away from toxins or from whatever like smoking, our genes mend themselves if early enough.

now a baby born with defects, that's sad :(

[Kristen (ColeysMom)]

Isabelle...I think that was a different time. Of course we've been through this sorta thing too...but they basically just gave us the statistics and prepared us, but never suggested that we consider not having more children. They did however suggest STRONGLY that we store cord blood IF we ever chose to have another...and we did.

This is for 2 reasons: 1) should Audrey have an ASD (or it's determined to be a metabolic condition or something else), and they find a stem cell therapy appropriate, we will have a transplant supply that wil be 100% useful for her, but also 2)that HER stem cells have a 50% chance at being useful for Coley.

And as MANY believe these days, ASDs are likely as a result of some sorta immune disfunction...and I believe it's NOT something they are born with, but damage from 'environmental' events...sure it's likely that certain gene scenarios 'set-up' a child's chances...so just knowing a child has that 'higher risk' would DEFINATLEY put parents in a position to be able to avoid insults, right? or knowing how/what the damage is...repairs can be made.

Just like now, they know which genes promote breast cancer (and other things) so THOSE people can take precautions... But also there are some genetic conditions that can be corrected using stem cells.

We are in a different world now, not one where there is no hope for a child diagnosed with an ASD...even without any sort of preventive measures, kids diagnosed these days have such better chances, just from interventions...

Things aren't as dark as you seem to think...

In fact I'd even go as far as saying that there is a HUGE appreciation these days for kids with ASDs, that tolerance and awareness and understanding has gotten so much better that MANY can see and appreciate their uniquenesses for the awesome things they are (not everyone of course, sadly). An little example: I had an elderly woman tell me how lucky we were that Coley's perspective of life is so 'poetic'...this woman is sweet, obviously, but she's also a bigot...in the same breath she spouts off all sorts of negativity about Italians, Irish, Catholics, etc...very close minded, but open enough to see the beauty in Coley's uniqueness...and I think it's also widely accepted that these kids are brilliant, but just have difficulty in sharing...jmho..