Mutation Patterns in Simplex Cases of Autism
There’s been a lot of study of copy number variants (CNV) in autism over the last decade or so. Far from beating a dead horse, a recent publication in Neuron […]
Tag Archives: aspergers
A Glimpse into the Future of Precision Medicine in Autism
At the moment, about 15-20% of cases of autism have an identifiable genetic component. Most of this is comprised of rare (<1%) mutations that have comparatively high penetrance for autism […]
Some Tidbits on Shank3: What Role Does Its Mutation Play in Autism?
For as popular as the study of synapses and Shank3 have been in autism research, we are still fairly ignorant as to the roles this gene’s products might play in […]
Alu Transposable Elements and the Human Genome
For those not familiar, transposable or mobile elements are segments of DNA that have, or at one time had, the potential for moving about the genome. This occurs either via […]
Being a Scientist with Learning Disabilities
It’s ironic to feel capable of such complex endeavors but to simultaneously find some of the simplest things– those things even first graders can do– challenging, if not downright impossible. […]
Seeking Common Ground in the Syndromes of Autism
There’s a common saying within the autism community: “If you’ve met one person with autism, you’ve only met one person with autism.” Even though there’s a common core to the […]
