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 […]
Author Archives: Emily Casanova
Neurodegeneration in Schizophrenia?
“Despite the substantial evidence and compelling rationale of the neurodevelopmental theories [in that schizophrenia adheres to a developmental model in which the primary developmental defect gives rise to pathologic ramifications […]
A Personal Story about Cancer, Autism, & DPD Deficiency
For the last few years, my mother has been battling colorectal cancer. In 2012, the primary tumor was removed, all lymph nodes appeared clear, and the pathologist, surgeon, and oncologist […]
How Stress Changes the Developing Brain
Even if you haven’t read any books or articles on the topic, most of us have at least a vague idea of the serious effects stress can have on a […]
New News in Human Evolution
It’s been a landmark season for big finds in paleoanthropology. Probably many of you have already heard of the new human species, Homo naledi, reported by Lee Berger and his […]
The History of Science – Individual Genius or Cultural Readiness?
For those of you who have followed this blog over time, you’ve probably noticed that aside from my interests in autism, I’ve also become fascinated by the philosophy and history […]
Not All Mutations in Autism Are Just about Loss- or Gain-of-Function
A few weeks ago I wrote about cell stress and its relationship with epilepsy. I reviewed how the accumulation of misfolded proteins within the endoplasmic reticulum (ER) can lead to […]
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 […]
The Endoplasmic Reticulum, Epilepsy, & Cell Stress
Scientists, especially geneticists, are often over-focused on the nucleus of a cell. After all, it holds the basic blueprints for all the gene products our cells make, right? Unfortunately, because […]
Autism: Reading the Brain in the Face
The human embryo develops three basic germ layers, which each give rise to various and occasionally overlapping structures. This is known as the Germ Layer Theory, originally proposed by Karl […]
Science Over a Cuppa 
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