Guest Interviews — 3 Minutes

Dr. Jeremy Veenstra-Vanderweele talks about genetic mutations and Autism

Guest Interviews — 3 Minutes

Dr. Jeremy Veenstra-Vanderweele talks about genetic mutations and Autism

The role of chromosomal micro-arrays in identifying autism-related mutations

Dr. Jeremy Veenstra-VanderWeele, MD, is the Ruane Professor for The Implementation of Science for Child and Adolescent Mental Health at Columbia University Medical Center; Director of the Division of Child & Adolescent Psychiatry at NewYork-Presbyterian/Morgan Stanley Children’s Hospital, New York State Psychiatric Institute (NYSPI), and Columbia University; and Co-Director of both the NIMH T32 Postdoctoral Fellowship for Translational Research in Child Psychiatric Disorders and the Whitaker Scholar Program in Developmental Neuropsychiatry at NYSPI/Columbia University Medical Center. Dr. Veenstra-VanderWeele is a child and adolescent psychiatrist who uses molecular and translational neuroscience research tools in the pursuit of new treatments for autism spectrum disorder and pediatric obsessive-compulsive disorder.

Frampton Gwynette: Yeah. And that leads me to start thinking about genetics because one of the things that’s interesting is patients can have blood testing now to have a chromosomal micro-array for instance, and they can discover that they might’ve been walking around with genetic mutations they didn’t know they had.

Jeremy Veenstra-VanderWeele: Yep. Well all of us have genetic variants that lead to risk of something and that can be the size of your nose, the way my ears stick out. It can be anything. And we know from looking at twin studies, for example, that genes clearly contribute to risk of autism. There are many different ways to have autism and autism as a term, autism spectrum disorder captures the idea that this is incredibly broad. It’s a series of three words that we use to describe somebody who might be a professor in college and somebody who might not be able to talk. And what we’re learning on the genetics front is that particularly in those people who have more difficulties, there are genetic variants that can be identified with simple blood tests.

Jeremy Veenstra-VanderWeele: So chromosomal micro-array, like you mentioned about 10% of the time if you send a chromosomal micro-array in any given person with autism, it’ll come back with a finding. That doesn’t mean that that genetic finding caused that person’s autism. What it does mean, however, is if you took that genetic finding away, that person probably would not have autism or would not have the same a cluster of difficulties they may run into. Most of those findings, however, are not in the folks who are in college right now or who are out in the professional world. Most of those findings tend to be in folks who have difficulties with learning difficulties with speaking, sometimes difficulties with motor function, et cetera. Although we do some find some of that also in people who may not have particular difficulties in any of those areas. It’s just a lower rate in that crowd.

Frampton Gwynette: Yeah. And that leads me to start thinking about genetics because one of the things that’s interesting is patients can have blood testing now to have a chromosomal micro-array for instance, and they can discover that they might’ve been walking around with genetic mutations they didn’t know they had.

Jeremy Veenstra-VanderWeele: Yep. Well all of us have genetic variants that lead to risk of something and that can be the size of your nose, the way my ears stick out. It can be anything. And we know from looking at twin studies, for example, that genes clearly contribute to risk of autism. There are many different ways to have autism and autism as a term, autism spectrum disorder captures the idea that this is incredibly broad. It’s a series of three words that we use to describe somebody who might be a professor in college and somebody who might not be able to talk. And what we’re learning on the genetics front is that particularly in those people who have more difficulties, there are genetic variants that can be identified with simple blood tests.

Jeremy Veenstra-VanderWeele: So chromosomal micro-array, like you mentioned about 10% of the time if you send a chromosomal micro-array in any given person with autism, it’ll come back with a finding. That doesn’t mean that that genetic finding caused that person’s autism. What it does mean, however, is if you took that genetic finding away, that person probably would not have autism or would not have the same a cluster of difficulties they may run into. Most of those findings, however, are not in the folks who are in college right now or who are out in the professional world. Most of those findings tend to be in folks who have difficulties with learning difficulties with speaking, sometimes difficulties with motor function, et cetera. Although we do some find some of that also in people who may not have particular difficulties in any of those areas. It’s just a lower rate in that crowd.

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