I was fortunate enough to attend the APAC conference today. Although it was the final day so I missed some of the more interesting plenary sessions and keynote addresses, I did manage to attend two interesting talks on the latest in genetic research. One of which I thought worth mentioning very briefly here. Now before I go on allow me to remind readers I am not a geneticist, nor do I have any training in science so excuse my laymens interpretation of what was a very interesting, if not at times complex, presentation.
The speaker was Dr Naomi Bishop a micro biologist from LaTrobe University. Her particular interest is viruses but she has now broadened her study into a new gene family implicated in the development of ASD. Her interest in this coming from having two sons on the spectrum.
She spoke of the DIA-1 (Deleted In Autism) and DIA1 R gene family being of particular interest. Whilst acknowledging there are over a 100 genes currently implicated in the development of ASD, this gene may account for some of the more ubiquitous expressions of ASD, in that we see not just neuronal cells being affected but others that lead to co morbid conditions such as gastrointestinal illness, compromised immunity, epilepsy etc. Interestingly these genes are not human specific and are quite ancient. Stay tuned for more research on this as it comes to hand.
Some statistics of interest were shown, with current thinking suggesting 80-90% of ASD is genetic and 10-20% de novo (a mutation of a germ cell, being sperm or egg, that is not seen in the family previously as a genetically inherited characteristic or disorder). Single gene disorders aside (Fragile x and Rhetts) it appears a complex interplay of multiple genes as well as possible external factors account for the development of Autisms. With the severity and co morbid conditions being dependent on which genes are either copied or deleted.
I find this interesting in light of the research coming out of the MIND Institute as presented by Professor David Amaral about sub groups of Autism http://www.theaustralian.com.au/news/health-science/us-researchers-discovery-promises-answers-on-autism/. I did try to chase David down to ask him a couple of questions about this research but lost him in the crowd.
The good news is despite the initial presentation of ASD appearing bleak it was agreed that early diagnosis and intervention can help alleviate many of the challenges faced by people on the spectrum as the brains plasticity allows it to compensate for initial disabling features. Namely Autism's brain connectivity problems. The general consensus seems to be there are several treatment philosophies than assist children with ASD, and more research needs to occur to determine which method is best for which child.
The speaker was Dr Naomi Bishop a micro biologist from LaTrobe University. Her particular interest is viruses but she has now broadened her study into a new gene family implicated in the development of ASD. Her interest in this coming from having two sons on the spectrum.
She spoke of the DIA-1 (Deleted In Autism) and DIA1 R gene family being of particular interest. Whilst acknowledging there are over a 100 genes currently implicated in the development of ASD, this gene may account for some of the more ubiquitous expressions of ASD, in that we see not just neuronal cells being affected but others that lead to co morbid conditions such as gastrointestinal illness, compromised immunity, epilepsy etc. Interestingly these genes are not human specific and are quite ancient. Stay tuned for more research on this as it comes to hand.
Some statistics of interest were shown, with current thinking suggesting 80-90% of ASD is genetic and 10-20% de novo (a mutation of a germ cell, being sperm or egg, that is not seen in the family previously as a genetically inherited characteristic or disorder). Single gene disorders aside (Fragile x and Rhetts) it appears a complex interplay of multiple genes as well as possible external factors account for the development of Autisms. With the severity and co morbid conditions being dependent on which genes are either copied or deleted.
I find this interesting in light of the research coming out of the MIND Institute as presented by Professor David Amaral about sub groups of Autism http://www.theaustralian.com.au/news/health-science/us-researchers-discovery-promises-answers-on-autism/. I did try to chase David down to ask him a couple of questions about this research but lost him in the crowd.
The good news is despite the initial presentation of ASD appearing bleak it was agreed that early diagnosis and intervention can help alleviate many of the challenges faced by people on the spectrum as the brains plasticity allows it to compensate for initial disabling features. Namely Autism's brain connectivity problems. The general consensus seems to be there are several treatment philosophies than assist children with ASD, and more research needs to occur to determine which method is best for which child.
This is interesting, and the first I've heard of this particular finding. Thanks for sharing this.
ReplyDeleteThanks Grace Im glad others find it interesting too. It certainly seems to explain why so many of our kids have the additional issues with gut/skin/food intolerance etc. Not that my son does, but I did consider it made sense that if there was a genetic issue causing neuronal problems then it would also be logical that other cells in the body would also be affected.
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