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The status of autism research—in verse

photo of Michael Wigler in his office
Michael Wigler discussing his research in his office at Cold Spring Harbor Laboratory in January 2020.
Spectrum News logo Wigler summed up his view of how the autism research field is doing in this poem, ‘Genetics for poets,’ originally published in Spectrum News on June 27, 2017.

Where do we stand in our understanding of autism genetics—and what major questions remain? A molecular biologist, supplies answers in stanzas.

1.
where have we gotten to from genetic analysis?
a. an understanding of the genetic architecture
i. role of de novo mutation
ii. role of transmission
b. a bevy of target genes
c. estimates of target size
d. the concept of gene vulnerability
e. awareness of genetic-phenotypic correlations
f. understanding of noncoding variants
g. beginnings of understanding of gender roles

2.
what can we do with it?
a. inform our understanding of the genetic basis of autism
b. diagnosis and counseling
c. develop individualized therapies
d. inspire therapies tested by stratification

3.
is this the end of the road?
a. hardly, not complete at gene target level
b. hardly, crack the noncoding and missense mutations
c. hardly, architecture not completely specified, especially the nature of multiplex autism
d. hardly, no modifiers known
e. hardly, no sensible functional stratification

4.
what is to be done?
a. continue to gather information
b. aggregate by functional overlap
c. stratify treatment by functional overlap
d. develop understanding of gender modifiers

Written by: Michael Wigler, CSHL Professor

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About

Michael Wigler

Michael Wigler

Professor
Russell and Janet Doubleday Professor of Cancer Research
Ph.D., Columbia University, 1978

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