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: autism spectrum
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 […]
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 […]
Changes to Nervous System Patterning in Autism
A good deal of my recent work has been focused on studying deviations to neuronal identity in relation to autism etiology. Though we use the term “neuron” to describe large […]
Psychosis in Autism
For about a year or more I’ve been interested in the relationship (or potential lack thereof) between autism and schizophrenia. As is commonly known, autism and epilepsy share considerable comorbidity […]
Autism Research Is in Crisis and Doesn’t Seem to Know It
Once again, I’m returning to my readings in the Philosophy of Science, a field of knowledge that few scientists acquaint themselves with, though more really should. I’m browsing through a […]
Are Sex Differences in Autism Just Normal Sex Differences?
“Although not a common focus of developmental research, a substantial body of work on adults examines the possibility that ASD sex differences are a reflection of normative sex differences. These […]
Rare Truncating Mutations Linked with Autism
You may have noticed that S.O.A.C. has been slow for the last few weeks. Well, I’m pleased to reported that my husband and I have just moved shop to Greenville, […]
Do Rare Mutations Play Important Roles in Common Conditions Like Autism?
The common disease, common variant hypothesis (CD/CV) stated that a few common allelic variants could account for the genetic variance in disease susceptibility, whereas the rare variant (CD/RV) hypothesis stated […]
Science Over a Cuppa 
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