Skip to main content

Carnegie Mellon Statistician Roeder Finds Genetic Risk for Autism

Press Release: Using New Statistical Tools, Carnegie Mellon's Kathryn Roeder Finds Genetic Risk for Autism Stems Mostly From Common Genes -Carnegie Mellon News - Carnegie Mellon University
I've written before about spontaneous, de novo, genetic variation and autism. The theory, which I consider favored by current research, is that genetics represent the primary factor contributing to autistic traits. Now, with statistical modeling, researchers find a likely correlation between genetics and autism.

If mild autistic traits are within inherited genetics, this suggests autistics are somewhere along the "spectrum" based on which additional variations occur.
"Within a given family, the mutations could be a critical determinant that leads to the manifestation of ASD in a particular family member," said Joseph Buxbaum, the study's first author and professor of psychiatry, neuroscience, genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai (ISMMS). "The family may have common variation that puts it at risk, but if there is also a 'de novo' mutation on top of that, it could push an individual over the edge. So for many families, the interplay between common and spontaneous genetic factors could be the underlying genetic architecture of the disorder."
After you have the predisposition for an ASD, the expression of autism varies based on the de novo variation. Copy number regulation (CNR) is a common source of genetic change. Duplication of genes is an amazing event, and it is astounding more errors don't occur with serious side effects. Term pregnancies are something of a statistical miracle.
Now that the genetic architecture is better understood, the researchers are identifying specific genetic risk factors detected in the sample, such as deletions and duplications of genetic material and spontaneous mutations. The researchers said even though such rare spontaneous mutations accounted for only a small fraction of autism risk, the potentially large effects of these glitches make them important clues to understanding the molecular underpinnings of the disorder.
Random variation rarely is caused by environmental (external) factors. But, most people outside science mistakenly assume genetic means inherited. In fact, the genetics that shape us most are often little more than random variation without a specific cause.

Comments

Popular posts from this blog

Autism, Asperger's, and IQ

"Aren't people with Asperger's more likely to be geniuses? Isn't genius related to autism?"

A university student asked this in a course I am teaching. The class discussion was covering neurological differences, free will, and the nature versus nurture debate. The textbook for the course includes sidebars on the brain and behavior throughout chapters on ethics and morality. This student was asking a question reflecting media portrayals of autism spectrum disorders, social skills difficulties, and genius.

I did not address this question from a personal perspective in class, but I have when speaking to groups of parents, educators, and caregivers. Some of the reasons these questions arise, as mentioned above, are media portrayals and news coverage of autism. Examples include:
Television shows with gifted characters either identified with or assumed to have autistic traits: Alphas, Big Bang Theory, Bones, Rizzoli and Isles, Touch, and others. Some would include She…

Listen… and Help Others Hear

We lack diversity in the autism community.

Think about what you see, online and in the media. I see upper-middle class parents, able to afford iPads and tutors and official diagnoses. I see parents who have the resources to fight for IEPs and physical accommodations.

I see self-advocacy leadership that has been fortunate (and hard working, certainly) to attend universities, travel the nation (or even internationally), and have forums that reach thousands.

What I don't see? Most of our actual community. The real community that represents autism's downsides. The marginalized communities, ignored and excluded from our boards, our commissions, our business networks.

How did my lower-income parents, without college educations, give me a chance to be more? How did they fight the odds? They did, and now I am in a position of privilege. But I don't seem to be making much of a difference.

Demand that your charities seek out the broadest possible array of advisers and board members.…

Life Updates: The MFA Sprint

Life is okay, if more than a little hectic at the end of this first month.

With one month down, I'm 11 months away from my MFA in Film and Digital Technology. Though things might happen and things do go wrong, so far I'm on schedule and things are going well —— though I'm exhausted and working harder than I did for any other degree. Because the MFA requires projects every week, this isn't as easy to schedule as writing. Even researching a paper can be done from the comfort of home, at any hour.

You cannot make movies by yourself, at any time of day. It doesn't work that way. Filming takes time, and often requires a team of people. It's not comparable to working alone on a degree in writing or rhetoric.

The team-based nature of film is exhausting for me, but I enjoy the results. I also like the practical nature of the skills being taught. You either learn how to adjust ISO, f/Stop, shutter speed, and other variables or you don't. You can have theories …