Autism research is entering a new era. Here’s what scientists are learning

There couldn't be a better time for autism research

There are countless theories about what causes autism. While the debate is getting louder, scientists say autism research has quietly entered one of its most promising eras

Few people are watching that transformation more closely than Dr. Joseph Fuchsbaum

a professor of psychiatry, neuroscience, and genetics at New York City's ICANN School of Medicine

and director of the Seaver Autism Center for Research and Treatment. He spent decades studying the causes of and treatments for autism

I came into Mount Sinai. It was an opportunity to work on autism as well

And at that time, we just began to realize that autism was genetic. I'm also a dad and a granddad

You know, seeing kids facing big challenges at a very young age is very motivating

Buxbaum has spent much of his career helping shape scientists' understanding of autism

What was once considered a mysterious disorder is now understood to have a strong genetic foundation

But that doesn mean the science is simple or that genes tell the whole story There no question that it largely genetic Take height We know so much about genetics of height and it literally hundreds of small changes throughout the genome

that kind of almost linearly, or in fact probably nearly linearly, the more of them you have in the higher flipping of the switch

the taller you're going to be, right? And so that's called polygenic risk

So if you have a mutation, you could still be relative to your peers

But the main driver for that individual is this rare mutation. Autism turns out to be exactly the same way

Researchers say autism is among the most heritable neurodevelopmental conditions they study

At the same time, they continue investigating how environmental exposures, particularly during pregnancy and early development

may interact with a person's genetics to influence risk. I have a grandchild that has had an infection at birth

Right. And she has she had developmental challenges and she also has a diagnosis of autism

Right So that I would call that an environmental cause of autism We believe certain medications valproic acid seems to also be associated with autism You know probably any kind of birth complications

increases for autism. Now, some of that, we're not always sure of the causal direction

Like, why are you taking valproic acid in pregnancy? It's because you have severe epilepsy

and epilepsy by itself is a risk factor for autism. For Butzbaum

understanding those environmental influences is part of good science. But he says there's a line between carefully testing scientific hypotheses

and making claims before the evidence is there. There's also this conversation about environment writ large

and that's where it's really quite murky, because there's really no smoking guns, right

First, there's the epidemiological data that says it's not a major part of it

unlike lung cancer, for example. And then there's not a lot of good data

we don't really have a good way of tracking everybody's exposure over time to every environmental factor

And then there a lot of you know what if kind of work which is useful to a point right Studies in the lab can point researchers toward possible environmental risk factors but determining whether those exposures actually contribute to autism is harder

Once scientists expand to studying large populations, where environmental exposures often overlap, it's challenging to isolate any single environmental cause

It's your house, and you know it's by your hand. While scientists are still unraveling the biology behind autism, Buxbaum says researchers have never been closer to translating decades of genetic discoveries into treatments

Several clinical trials are already underway for rare genetic conditions associated with autism, such as Angelman syndrome and Fragile X syndrome

While those therapies won't help every autistic person, Buxbaum believes they're the beginning of a new chapter in autism research

I think the world's going to change once we start having effective treatment

that even one or two successes in a few cases is going to change the field forever

So there couldn't be a better time for autism research