Autism Spectrum Disorder (ASD) is a complex developmental condition characterized by differences in social interaction, communication and behavior. Estimates of prevalence vary from 1 in 36 to 1 in 100 individuals.
Genetics plays an important role in the occurrence of Autism. Changes such as variations or mutations in a large number of genes have been linked to Autism. These studies have mostly been done in Western countries. We are interested in discovering if there are specific genes or changes in the genome that are more common in India or even unique to India. This may help us develop genetic test panels for ASD. How will we study this?
Like many neurodevelopmental conditions Autism is also difficult to diagnose objectively. Having quantifiable parameters to diagnose a condition makes it easier to diagnose earlier and with more confidence. We are interested in discovering if there are factors such as specific RNA or proteins or metabolites in the blood of autistic individuals which can be indicators of the condition early on. This may help us develop diagnostic tests for ASD. How will we study this?
Gut dysbiosis is a common problem in autistic individuals. There is a lot of excitement in the idea that changing the bacteria in the gut of autistic children may lead to improved outcomes. Gut microbes, collectively known as gut microbiome, is influenced by diet, physiology, genetics and many other factors. We are curious to know if autistic individuals from India have unique gut bacteria. Understanding this could help us develop therapies based on gut microbiome engineering for Indian ASD children. How will we study this?
Stem cells and cell lines
Each individual with ASD carries in them a collection of genetic changes that can lead to severe or mild effects on behaviour and cognition. Connecting these changes to brain development will require us to study their brains, cell by cell. This is not easy or ethical.
Any of our blood, skin or fat cells can be converted to cells known as induced Pluripotent Stem Cells (iPSCs) in the laboratory. These Stem Cells can then be used to create neurons and brain-like tissue in culture in the laboratory. These cultured tissues are much smaller, simpler and easier to study than the human brain. Using these cultured cells, we can understand how the genetic changes in the ASD individual can have an effect on brain development and function. How will we study this?
Hundreds of genes have been linked to Autism. But, we do not yet understand the effect these genes and changes in them have on the brain of the affected individuals. We are curious to understand the importance of these genes in brain development. Understanding this may help us learn more about how brain develops and how small changes in the genes can influence our behaviour and the personalities we develop. How will we study this?
If you are interested in participating in our study, please fill this form and we will get in touch with you.
