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People with profound autism often live with severe intellectual disability, are nonverbal and often have medical conditions like epilepsy. But pinning down the biology behind profound autism has been elusive. There are genes and environmental factors which vary from person to person. A new paper out today offers some new information and hope. NPR's Pien Huang has more.
PIEN HUANG, BYLINE: Dr. Matthew State is a clinical psychiatrist and a genetics researcher. He's been a pioneer in identifying genes associated with profound autism.
MATTHEW STATE: We're talking about a subset that have very severe impairments, often coexisting with intellectual disability, the absence of language, epilepsy, etc.
HUANG: Nevan Krogan is his colleague at UC San Francisco, director of the Quantitative Biosciences Institute. He studies how proteins in the body interact. He says gene researchers like State have been busy.
NEVAN KROGAN: They've discovered, you know, I guess at this point, several hundred genes and corresponding mutations that are prevalent in individuals that have profound autism. But as Matt will tell you, they've kind of hit a wall.
HUANG: A wall, as in the gene discoveries haven't led to many promising treatments. One missing piece, State says, are the proteins. These are the molecules that build the body based on instructions in the genes.
STATE: What makes an eye cell an eye cell, and a muscle a muscle are the proteins and the proteins working together. They are the machinery of life.
HUANG: About a decade ago, the two researchers paired up. Here's Krogan.
KROGAN: He had the genes. He had the mutations. I had the technologies to look at the corresponding proteins.
HUANG: The work was slow at first, but more recent advances in technology, including AI, have made it go much faster. Now, they and their colleagues are out with a new study in the journal Science that maps the interactions between the proteins that come from those autism risk genes. And while there's hundreds of genes acting in more than a thousand different ways, they found their proteins tend to act on a smaller and more specific set of biological processes.
STATE: If we look at multiple mutations, and they converge on the same process, that's strong evidence that you're dealing with the things that you want to treat.
HUANG: These are processes related to early brain development, like how synapses get constructed, which neurons develop and when. Daniel Geschwind at UCLA studies the role of genetics on the human brain. He was not involved in the paper, but he says it's a huge undertaking that's produced high-quality data.
DANIEL GESCHWIND: This kind of large-scale work is really critical to begin to get enough data to really understand what's going on and to move the field forward.
HUANG: Geschwind says the vast majority of drugs are made to target proteins, so this map of protein interactions is a great starting point.
GESCHWIND: A lot of people interested in understanding autism and drug development are going to be using this resource.
HUANG: Alison Singer is head of the Autism Science Foundation. She has a daughter with severe cognitive impairment.
ALISON SINGER: For families of people with profound autism, like mine, this is the kind of scientific advance that we have been waiting for and praying for.
HUANG: While Singer knows the discoveries won't lead to treatments overnight, they make the path more clear.
SINGER: It opens up a whole new avenue for therapeutic intervention, and it's just, in general, a cause for a lot more hopefulness.
HUANG: It's a long road from a biological discovery like this to a drug that treats humans, but the researchers are also hopeful. Here's State first, then Krogan.
STATE: They take time, and it takes a lot of persistence and focus to get those into patients.
KROGAN: But we've got to the next essential step in this pipeline, right (laughter)?
STATE: So this is where you see the yin and the yang here.
HUANG: They're already working on the next steps.
Pien Huang, NPR News. Transcript provided by NPR, Copyright NPR.
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