Autism Spectrum Disorder (ASD) has two phenotype domains
Social Domain
Information regarding social interactions
Verbal and nonverbal communications
Repetitive Domain
Repetitive behaviors
Restrictive interest
There are currently no treatments for ASD because the mechanism that causes the disorder is not fully understood.
Behavioral therapy to help the individual cope and gain skills
There are no ASD specific medications
Medication can be given to individuals with ASD to help with other comorbidities including depression, anxiety, etc.
Medications require an in-depth understanding of the neural mechanisms for each cell since they all work together.
This understanding is not currently available, but researchers are interested in understanding how both genetic and environmental factors impact one's phenotype, in this case the expression of autism.
Heritability: the proportion of variance in a trait explained by inherited genetic variants. The starting point of understanding a phenotypic trait.
Heritability of 1 means most of variation in a trait is explained by genetics, and it will be important to focus on genetic research to learn more.
Brain disorders have a very high heritability
ASD has a heritability of 40-80%
Heritability of 0 means most of the variation in a specific trait is explained by factors other than genetics. Low heritability means it will be important to focus on environmental factors more than genetic influence.
There are two classes of genetic variation in ASD
The fist is the common variation
Relatively common and widespread in the population, and only increases the risk of getting autism by 5-10%
Small effect size
Studied through genome-wide association studies
They found 4 genomic regions associated with Autism in the Common variation
The second is the rare variation
As the name implies, this variation is more rare in the population, which can increase the risk of getting autism by two times.
Has a large effect size
Only explains a small proportion of genetic variation
Studied through exome sequencing
102 genes were found to be associated with ASD in the rare variation.
What happens when we find ASD risk genes?[edit | edit source]
Find out that Gene A is associated with increased risk of having ASD.
Find out what mutation is causing a disruption in gene A
Find out what mechanism causes that specific mutation that leads to ASD
Ex. down regulation of gene A leads to ASD
Apply some genetic change to compensate for the mutation
Ex. Overexpress Gene A to make up for the natural suppression of the gene inorder to alleviate ASD symptoms.
UNC partnered with Simons Foundation Autism Research Initiative (SFARI) to understand the genetic basis of ASD in the US. Their goal is to speed up ASD research and they are looking for Individuals with ASD and their biological parents and siblings[edit | edit source]
Registration online
Participation is at home, where saliva kit will be shipped for collection.
Personalized gift card pf up to $50 after registration
