Autism and the complete human genome: Q&A with Evan Eichler

Post Reply New Topic

It has been more than 20 years since scientists announced the completion of the Human Genome Project — even though the $3 billion effort to sequence the 3 billion bases of human DNA was not, in fact, complete Technological limitations meant that roughly 8 percent of the genome remained a mystery.

In April, the Telomere-to-Telomere Consortium closed nearly all the gaps, adding roughly 200 million bases of genetic information that codes for more than 1,900 genes.

This new treasure trove of data, detailed in six papers in Science, stands to advance autism research, says Evan Eichler, professor of genome sciences at the University of Washington in Seattle.

Spectrum spoke with Eichler, who was part of the Human Genome Project and the Telomere-to-Telomere Consortium, about what secrets may emerge from once-murky regions of the genome.