Are So-Called De Novo Mutations Causing Autism?

Michael Schatz: So in autism, I collaborate with some folks at Cold Spring Harbor Lab where we’re participating in a project that’s been sponsored by the Simons Foundation.  And the idea there is over the last several decades different hospitals around the U.S. have been identifying families where one kid will have autism, their sibling does not, and have been collecting from those people blood samples of the autistic child, their sibling, and also their parents.

So then the questions tend to be well, what is it about these autistic kids in terms of their genome that are special or changed or different, relative to their parents, relative to their siblings, that either predisposed or perhaps even caused the disorder.  There’s been a lot of interest.  There’s been a lot of study about this.  There’s a lot of uncertainty about this.  And really it’s been the growth of DNA sequencing technologies that has made it possible to finally drill down into the genome to see what exactly is special about kids with autism.

So through some early studies, there was a lot of evidence that so-called de novo mutations were at least partially responsible for autism.  So a de novo mutation is most of your genome is a combination of your parents’ genome, so it’s half your mom plus half your dad put together forms you.  But a very, very small number of changes are so-called de novo, meaning that there’ll be spontaneous changes in the genome.  There had been some earlier work through Mike Wigler’s Labs and others that saw that there were large-scale of what’s called copy number changes that were associated with autism, where segments of the genome would either be duplicated or segments of the genome would be deleted and lost in kids with autism.

Now through improved sequencing technology we can drill down and we can look and see well, what are the specific bases that are being deleted or amplified.  What are the specific mutations?  It just gives us incredible power to be able to identify these changes.  We’re still relatively early in the project.  So far we’ve sequenced about 300 such families.  The full project will be about 3,000 families, and the hope there is to be able to identify the patterns that lead to the disease.


Image Credit: Shutterstock

Michael Schatz on autism and genetics.

Car culture and suburban sprawl create rifts in society, claims study

New research links urban planning and political polarization.

Pixabay
Politics & Current Affairs
  • Canadian researchers find that excessive reliance on cars changes political views.
  • Decades of car-centric urban planning normalized unsustainable lifestyles.
  • People who prefer personal comfort elect politicians who represent such views.
Keep reading Show less

How to split the USA into two countries: Red and Blue

Progressive America would be half as big, but twice as populated as its conservative twin.

Image: Dicken Schrader
Strange Maps
  • America's two political tribes have consolidated into 'red' and 'blue' nations, with seemingly irreconcilable differences.
  • Perhaps the best way to stop the infighting is to go for a divorce and give the two nations a country each
  • Based on the UN's partition plan for Israel/Palestine, this proposal provides territorial contiguity and sea access to both 'red' and 'blue' America
Keep reading Show less

NASA astronomer Michelle Thaller on ​the multiple dimensions of space and human sexuality

Science and the squishiness of the human mind. The joys of wearing whatever the hell you want, and so much more.

Flickr / 13winds
Think Again Podcasts
  • Why can't we have a human-sized cat tree?
  • What would happen if you got a spoonful of a neutron star?
  • Why do we insist on dividing our wonderfully complex selves into boring little boxes
Keep reading Show less