The Simplex Things In Life: Utilizing Artificial Intelligence Models to Better Understand Autism

Autism Spectrum Disorder, or ASD, is nothing if not unique.

The way ASD manifests itself in people is unique; although it most often presents as some form of variable impairment in social interaction and communication, each individual has behaviors and habits that are as unique to them as snowflakes are to one another.

ASD has also proven itself to be a uniquely challenging disorder to study. In the past decade, de novo (new) mutations have been identified as key contributors to causality of ASD. However, the majority of these identified de novo mutations are located in protein-coding genes, which comprise only 1–2% of the entire human genome.

Up to this point, a majority of previous research has focused on identifying mutations located in the 20,000 identified genes in the protein-coding region, which would seem like a promising approach. Genes are the genetic blueprints for creating proteins, which control and perform crucial tasks in our bodies, such as fighting off infections, communicating between your organs, tissues, and cells as chemical messengers, and regulating your blood sugar levels. It seems like basic math: Genes + Mutations = Mutated Proteins. Mutated Proteins = Disrupted Protein Function.

However, it has been observed that all the known genes that are ASD-associated can explain only a minor fraction of new autism cases, and it is estimated that known de novo mutations in the protein-coding region contribute to not more than 30% of cases for individuals who have no family history of autism (better known as simplex ASD). This provides evidence to suggest mutations contributing to autism must additionally occur elsewhere in the genome. Continue reading “The Simplex Things In Life: Utilizing Artificial Intelligence Models to Better Understand Autism”

Is Artificial Intelligence a Threat to Mankind?

Artificial intelligenceTechnology: We all use it, and some of us couldn’t go an entire day without it. In many ways, digital technology has improved our lives by increasing productivity and communication. Computer technology is everywhere: our homes, offices, phones and even cars. Technology has integrating into our lives so completely that most of us no longer stop to marvel at even the [seemingly] simplest capabilities such as the predictive software that our smart phones use to predict which word we are typing after we type in only the first few letters, especially if the software gets it wrong much of the time. However, digital technology has its dangers and inconveniences: cybercrime, hackers, stolen data, and computer crashes and failed Wi-Fi connections at the most inopportune times. In a recent BBC interview, one of modern science’s most brilliant minds highlighted another potential danger: artificial intelligence. Does artificial intelligence pose a threat to mankind?

Continue reading “Is Artificial Intelligence a Threat to Mankind?”

Under the Weather? Twitter Knew Over a Week Ago

I’m not feeling very well today, which stinks because it’s Friday and I had some really fun plans tonight. Instead, I’ll probably end up staying home for a quiet night with my husband and daughter and some takeout food, and an early night to bed. I’m not complaining too much, though, because let’s be honest, you enjoy those quiet nights when you have a one-year-old toddler! But a recent article in New Scientist makes me wonder if, had I been paying close enough attention to Twitter, I could maybe have known over a week ago that I would’ve been under the weather today, and save me from having to tell all my girlfriends I’m probably pooping out on them tonight. Continue reading “Under the Weather? Twitter Knew Over a Week Ago”