What Is Autism?

Dr. Michael Wigler has made wide-ranging contributions to biomedical research in genetics, cancer, and cognitive disorders. Dr. Wigler attended Princeton University as an undergraduate, majoring in Mathematics, and Columbia University for graduate studies in Microbiology. After receiving his Ph.D., he began his scientific studies at Cold Spring Harbor Laboratory, where he continues his work to this day as an American Cancer Society Research Professor.

Early in his career, Dr. Wigler developed methods for engineering animal cells with his collaborators at Columbia University, Richard Axel and Saul Silverstein. These methods are the basis for many discoveries in genetics, and the means for producing medicines used to treat heart disease, cancer, and strokes. Dr. Wigler continued his genetic explorations, and in the early 1980s isolated the first human cancer genes. In the mid 80s, Dr. Wigler and his collaborators demonstrated conservation of cellular pathways in humans and yeast, thereby providing deep insights into the function of the cancer genes.

In the early 1990s, Drs. Wigler and Clark Still developed a method for building vast chemically indexed libraries of compounds, an approach that is still in use for drug discovery. During the same period, Wigler’s group developed the concept and applications of representational analysis, RDA, which led to identifying new cancer genes and viruses. He later enhanced this concept through use of microarrays, a method now widely used commercially for genetic typing.

Dr. Wigler’s research is presently focused on the genomics of cancer and genetic disorders. He expects this work will eventually improve the targeting of cancer treatment and lead to early detection tests for cancer. His studies in human genetics led to the discovery of a vast source of genetic variability known as copy number variation (CNV), and to the breakthrough that spontaneous germline mutation is likely to be a contributing factor in autism. His genetic theories and methods suggest to new approaches to understand many other cognitive and physical abnormalities.

For his fundamental contributions to biomedical research, Dr. Wigler is a recipient of numerous awards and honors and is a member of the National Academy of Science and the American Academy of Arts and Sciences.
  • Transcript

TRANSCRIPT

Question: What is autism?

Michael Wigler: Well, there are a triad of behaviors that are the earmarks of autism.  The include difficulty in social interactions, delay in the development of speech and communication.  And those are distinguishable and repetitive behaviors, almost obsessive-like behaviors.  

The recognition of this triad as a condition we call autism began only in the late ‘30s, and as the diagnostic criteria began to be more widely applied, more and more children were being called autistic.  And the definition, I think, I mean, when people now talk about autism spectrum disorders where a child has varying degrees of these abnormalities.  It is not, in fact, an extremely well-defined disorder.  It has sloppy boundaries to normal behavior.  We all know people that are awkward socially, there are many people who learn language late in life, and we all may know people that have stutters, or have obsessive behaviors, or even hang wringing.  So there is something of a continuum of all three of these things.  That’s not a condition whose boundaries are well-defined.  Yet, if you meet a child with autism, you can generally say that there is something profoundly wrong here. 

But it’s a hard disorder to define better than that.  And probably the reason it’s harder to define better than that is that the number of genes involved.  The number of underlying causes that can create this triad is very great.  For example, the syndrome itself is enormously varied.  And if you have listened to somebody who studies autistic children—children with autism, you’ll frequently hear them say that each child that they see is different than the next.  It’s not really a syndrome in the way that Down syndrome is a syndrome.  There are a variety of genetic disorders that are frequently—you can almost tell that the children who have these disorders have the same underlying cause, because they’ll actually look alike.  It’s not just Down syndrome that has that property, Progeria has that property.  There are a number of childhood disorders where the children who have these disorders actually look alike.  

That’s not the case in autism.  Each child has—is sort of wonderfully different than the next child, so there’s a huge amount of variability.  And I think this has confounded the general public because it appears that the rate of autism has been going up so dramatically.  In fact, I think that’s mainly due to increased diagnosis.

Recorded April 12, 2010


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