The genes he seeks out are those that may be linked to child neuropsychiatric disorders including autism, Tourette, and obsessive-compulsive disorders.
What he and other researchers use as a tool is high-throughput, high-resolution genomic analysis, which is so fast that in the near future we may know quite a bit more about many of the chromosomal rearrangements linked to several genetics disorders.
However, he says, "we still have not been able to find a single common variation" in gene sequence that explains any of the child psychiatric disorders. But, he expresses a certain excitement about the future of genomics analysis because of fast technologies.
What he predicts is that rare gene variations, or rare combinations of gene variations, will finally explain the etiology of the child psychiatric disorders. Soon, we'll know enough to put the science on par with other more-understood diseases like cancer.
He shares findings from his lab, published in Nature last month, of a defective gene involved in the expression of histamine, which is linked to neuropsychiatric disorders.
Histamine acts as a neuromodulator that opposes dopamine activity, so the discovery may lead to a number of compounds already in clinical trials related to histamine as options for potential treatments.
Dr. State also shared information about the pathways that are involved or may be involved in autistic spectrum disorders.
The point, really, that he's pushing in this talk is that "next-generation sequencing helps us map pedigrees that we couldn't map before." In fact, he adds, "new sequencing technology is transforming" the entire way we look at the future of medicine.
Many genes lead to a phenotype and one gene that goes wrong can lead to large implications in a phenotype. The complexity of genetic disorders, unfortunately, is staggering.
So far the study of genetics has not produced much in terms of real-world treatments and benefits because of complexity, Dr. State says. He has high hopes for what cheaper, faster methods will bring in the future.
Location:Church St,New Haven,United States
