Helping Give Away Psychological Science/Autism Speaker Series/Introduction to Autism
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Introduction to Autism
[edit | edit source]Hyejung Won Ph.D. - UNC Department of Genetics and Neuroscience Center
Phenotypes
[edit | edit source]- Autism Spectrum Disorder (ASD) has two phenotype domains
- Social Domain
- Information regarding social interactions
- Verbal and nonverbal communications
- Repetitive Domain
- Repetitive behaviors
- Restrictive interest
- Social Domain
- 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.
Genetics of ASD
[edit | edit source]- 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.
- 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.
- 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.
- The fist is the common 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
- Join UNC SPARK: cidd.unc.edu/Registry/Spark/