00:02there couldn't be a better time for autism research there are countless theories about
00:07what causes autism while the debate is getting louder scientists say autism research has quietly
00:12entered one of its most promising eras few people are watching that transformation more closely than
00:18dr joseph fuchsbaum a professor of psychiatry neuroscience and genetics at new york city's
00:23ikan school of medicine and director of the siever autism center for research and treatment
00:28he spent decades studying the causes of and treatments for autism i came into mount sinai
00:34it was an opportunity to work on autism as well and at that time we just began to realize that
00:39autism was genetic i'm also a dad and a granddad you know seeing kids facing big challenges at a
00:46very young age is is very motivating fuchsbaum has spent much of his career helping shape scientists
00:52understanding of autism what was once considered a mysterious disorder is now understood to have
00:57a strong genetic foundation but that doesn't mean the science is simple or that genes tell the
01:02whole story there's no question that it's largely genetic take height we know so much about genetics
01:08of height and it's literally hundreds of small changes throughout the genome that kind of almost
01:13linearly or in fact probably nearly linearly the more of them you have in the higher flipping of the
01:20switch the taller you're going to be right and so that's called polygenic risk so if you have a
01:26mutation you could still be relative to your to your peers but the main driver for that individual is
01:32this rare mutation autism turns out to be exactly the same way researchers say autism is among the most
01:38terrible neurodevelopmental conditions they study at the same time they continue investigating how
01:44environmental exposures particularly during pregnancy and early development may interact with the
01:49person's genetics to influence risk I have a grandchild that has had an infection at birth right and she has
01:58she had
01:59developmental challenges and she also has a diagnosis of autism right so that's you know and I would call
02:07that an environmental cause of autism that we believe certain medications on valproic acid seems to also be
02:16associated with autism you know probably any kind of birth weight complications increases for autism
02:22um now some of that we're not always sure of the causal direction um like when why why are you
02:28taking
02:29valproic acid in pregnancy it's because you have severe epilepsy and epilepsy by itself is a risk factor
02:34for autism for buttsbaum understanding those environmental influences is part of good science but he says there's a line
02:41between carefully testing scientific hypotheses and making claims before the evidence is there
02:46there's also this conversation about environment writ large and that's where it's really quite murky
02:51because there's really no smoking guns right first there's the epidemiological data that says
02:56it's not a major part of it unlike you know sort of lung cancer for example and then there's not
03:03a lot
03:03of good data we don't really have a good way of tracking everybody's exposure over time to every
03:08environmental factor and then there's a lot of you know what if kind of work which is useful to a
03:17point right studies in the lab can point researchers toward possible environmental risk factors but
03:24determining whether those exposures actually contribute to autism is harder once scientists expand to
03:29studying large populations where environmental exposures often overlap it's challenging to isolate any
03:35single environmental cause while scientists are still unraveling the biology behind autism
03:45bucksbaum says researchers have never been closer to translating decades of genetic discoveries into
03:50treatments several clinical trials are already underway for rare genetic conditions associated with
03:56autism such as angelman syndrome and fragile x syndrome
04:01while those therapies won't help every autistic person boxbaum believes that the beginning of a new chapter in
04:07autism research i think the world's going to change once we start having effective treatment that even one or two
04:12successes in a few cases is going to change the field forever so there couldn't be a better time
04:21for autism research
04:22for autism research
