Jacob McCauley, a 2003 NAAR pre-doctoral fellow, has wasted no time getting right down to business.
A graduate student at Vanderbilt University under the mentorship of Dr. James Sutcliffe, he is pursuing a Ph.D. in Human Genetics. As part of his work in Dr. Sutcliffe's lab at Vanderbilt's Center for Human Genetics, Jacob is the lead author of two papers currently in press focusing on autism.
“I am very grateful for the opportunity that NAAR has given me,” said Jacob. “I look forward to continuing my studies under the guidance of Dr. Sutcliffe and being a part of the research effort focusing on the complex genetics surrounding autism.”
Dr. Sutcliffe, one of the investigators taking part in the NAAR Autism Genome Project, believes Jacob's fellowship an excellent use of NAAR's resources.
“Jake is truly a budding star in field of autism research. His fellowship is a great example of how NAAR is bringing the best and brightest young minds to focus on autism,” he said.
One of Jacob's publications, “Linkage and Association Analysis at the Serotonin Transporter (SLC6A4) Locus in a Rigid Compulsive Subset of Autism,” has already been published in the online edition of Neuropsychiatric Genetics, a publication of the American Journal of Medical Genetics, part B. He and his colleagues collaborated with renowned researcher Dr. Susan Folstein on the project.
The study pertains to linkage analysis on chromosome 17 and the subsequent demonstration of increased linkage in a subset of families where people with autism are more severely affected by rigid compulsive behaviors.
“The genetic association we see implies there is something about that particular version of the gene (SLC6A4) that is different and related somehow to risk for the development of autism,” said Jacob.
The study is scheduled to be published in an upcoming (hard copy) edition of Neuropsychiatric Genetics.
A second paper, “Linkage Disequilibrium Map of the 1Mb 15q12 GABA Receptor Subunit Cluster and Association to Autism,” is also scheduled to be published in Neuropsychiatric Genetics.
This study focuses on gamma-aminobutyric acid (GABA), which, like serotonin, is a neurotransmitter responsible for communications between neurons in the brain. The team found a clustering of nominally significant association around the GABRB3 gene, suggesting a possible link to risk for autism.
“While these results are interesting, our future directions with this project include collaborating with other investigators taking part in the NAAR Autism Genome Project to try to replicate our observations and to confirm which of these associations is meaningful to autism risk,” said Jacob. “For there to be substantial progress in understanding the genetic basis of autism, we need a collaborative effort in order to both confirm each others' work and have a sufficiently large sample size that provides the statistical power required to detect genetic effects.”
NAAR will make both publications available in full once they are published in the journal.