Moving ahead with autism research

Last week, the fifth annual research symposium of the Autism Consortium, a collaboration involving more than a dozen Boston-area institutions, dealt with several topics near and dear to our hearts at Children’s. Twenty-two investigators presented their research in autism, ranging from clinical advances to genomics to advanced data mining.

The need to push the science to the people was front and center, with announcement of a new initiative on Translational Medicine and Autism Therapeutics. Excitement is building around the possibility of, for the first time, correcting the neurologic dysfunction that underlies autism spectrum disorders, rather than just trying to blunt their most difficult symptoms with antidepressants, antipsychotics, stimulants and anticonvulsants.

Mriganka Sur, head of the Department of Brain and Cognitive Sciences at MIT, led a session giving updates about clinical trials in disorders related to autism. Children’s Omar Khwaja, gave an overview of a new clinical trial for Rett Syndrome underway at Children’s, and Kira Dies described two clinical trials at Children’s for tuberous sclerosis, a genetic disorder causing autism symptoms in half of all patients, and Paul Wang of Seaside Therapeutics described trials underway for Fragile X syndrome. The hope is that if these treatments work, they may also be helpful for “garden variety” autism.

In a discussion on collaborations between academia and industry, Robert Ring, head of the Autism Research Unit at Pfizer, explained why drug companies have been loath to pursue pharmacologic therapies for autism: a lack of precedent for drugs targeting the brains of children, and a mix of other challenges on both the science and business end. The Simons Foundation Autism Research Initiative provides excellent coverage of Ring’s talk on its website.

A morning session focused on a topic Children’s is very much engaged in: how to identify autism early, when interventions in the rapidly developing brain are most likely to have an effect? Chris Walsh, chief of the Division of Genetics at Children’s Hospital Boston, outlined the still-evolving state of genetic screening and diagnostics – a fast-moving target worth watching. Charles Nelson, who directs Developmental Medicine Research at Children’s, described his studies using sophisticated electrophysiological and neuroimaging tools to test infants with a known risk for autism, by virtue of having an affected sibling. Any early, noninvasive neurologic markers he finds, if validated through long-term follow-up of the infants, could be applied to diagnose autism as early as infancy.

And Lou Kunkel, director of the Program in Genomics at Children’s, previewed research that is beginning to convince skeptics that gene expression patterns in a patient’s blood could serve as a reliable diagnostic for autism. Read more about this project from the Simons Foundation, whose financial support we are most grateful for. (Thanks are also due to the Nancy Lurie Marks Family Foundation, which gave vital seed money to get this “crackpot” idea off the ground.)

For more on the symposium, read the Consortium’s press release. Will this research lead to better futures for people with autism? While it’s probably too late for my middle-aged sister, I certainly hope so.

  • milesrf

    An idea to consider: Suppose that autism is related to the TOTAL mount of mercury encountered, but not specifically to any of the known richer sources (vaccines, broken thermometers, broken fluorescent lights, fish near the top of the food chain of fish that eat other fish, SOME high fructose corn syrup, dental fillings, etc.)

    Currently, mercury detection seems to be sensitive enough to detect the richer sources, and approaching, but not yet at, enough sensitivity to detect the normal background levels.

    This could easily produce confusing results for any research aimed at checking whether any of the richer sources is the primary cause of autism, if the total amount from that source is not much higher than the accumulated amounts from sources that are currently undetectable. For example, I’d expect the richer sources to have some influence on WHEN autistic traits become detectable, but much less influence on whether they finally show up at all.

    I’ve seen a few articles saying that glutathione is part of the body’s method of disposing of NATURAL levels of mercury (which are not zero), but as far as I can tell, those articles are all from people trying to sell glutathione, and therefore not to be trusted as from people more interested in telling you something accurate than in getting your money.

    I’ve seen some scientific articles saying that some researchers measured glutathione levels in autistics, but none offering any conclusions about whether it is important were included in the portions of those reports I could read without paying for access.

  • milesrf

    An idea to consider: Suppose that autism is related to the TOTAL mount of mercury encountered, but not specifically to any of the known richer sources (vaccines, broken thermometers, broken fluorescent lights, fish near the top of the food chain of fish that eat other fish, SOME high fructose corn syrup, dental fillings, etc.)

    Currently, mercury detection seems to be sensitive enough to detect the richer sources, and approaching, but not yet at, enough sensitivity to detect the normal background levels.

    This could easily produce confusing results for any research aimed at checking whether any of the richer sources is the primary cause of autism, if the total amount from that source is not much higher than the accumulated amounts from sources that are currently undetectable. For example, I'd expect the richer sources to have some influence on WHEN autistic traits become detectable, but much less influence on whether they finally show up at all.

    I've seen a few articles saying that glutathione is part of the body's method of disposing of NATURAL levels of mercury (which are not zero), but as far as I can tell, those articles are all from people trying to sell glutathione, and therefore not to be trusted as from people more interested in telling you something accurate than in getting your money.

    I've seen some scientific articles saying that some researchers measured glutathione levels in autistics, but none offering any conclusions about whether it is important were included in the portions of those reports I could read without paying for access.