Of Genes and Genesis

Nusrat Jahan Pritom discusses the origin of autism with Mohammed Uddin, a geneticist

Autism is a complex developmental disability that typically appears during the first three years of life and affects a person’s ability to communicate and interact with others. The origin of autism has puzzled people for years.

While the exact causes of autism are unknown, it is sometimes thought to be a result from a combination of several ‘causes’ such as genetics, babies in the womb being exposed to traffic pollution, etc. Autism Speaks, the world’s leading autism science and advocacy organization, has published that autism is one of the fastest growing developmental disability in USA. Autism has no cure and it affects 1 in 68 children. The report further said that autism costs a family $60,000 a year on average!
In Bangladesh, it is said that about ten percent people suffer from some kind of challenge or disability and that the number of autistic kids are rising over the years. In the recent decade, awareness of autism has increased here. Organizations were founded which work solely for the benefit of autistic children such as Autism Welfare Foundation established in 2004, Autistic Children Welfare Foundation established in 2007, etc. Certain schools only teach autistic children while there are other schools in Bangladesh where autistic children are taught along with others in a ratio of around 10:1. IEP or Individual Education Plan that has a student teacher ratio of 2:1 has also been implemented here in some schools for autistism-stricken children to nurture and develop their talents and potentials. What most people don’t realize is that being autistic and being disabled are not the same. HANS, an organization that holds an art exhibition every year recently held the sixth one by autistic kids titled “Emerge From Unknown VI” that lasted from November 7 to November 14. Through this event they aim to provide people with correct information regarding autism and autistic children; the fact that they are not disabled but very creative.

While most people are not even aware of autism, Mohammed Uddin has discovered a pattern to the genesis of autism. Although he has a Bachelor’s degree in Computer Science he undertook a course in Computational Biology during his Master’s that changed his career. The course introduced him to genetics. Since the blueprint of DNA came in the year 2000, scientists have been constantly analyzing the different aspects of it to understand what we, human beings, are really made up of. Mohammed’s course of Computational Biology used computers to analyze living systems. Before that scientists used to hire a programming specialist to interpret the data locked in the genetic structure. As Mohammed was both a computer scientist and geneticist, he not only unlocked the data but had the knack to dig further.
“Autism Spectrum Disorder (ASD) is a lifelong neuropsychiatric condition affecting multiple domains of life i.e. communication, socialization and behavior. No cure is available yet and it is a devastating lifelong condition that manifests early in childhood. This harsh reality prompted me to understand autism better through research,” says Mohammed. Though Mohammed started out dreaming of a career in Silicon Valley, after the course, he decided to do a PhD not in Computer Science but in human genetics. Mohammed was offered a fellowship under Dr. Stephen Scherer, Director of The Centre for Applied Genomics at The Hospital for Sick Children (SickKids) in Toronto and in 2012 the dynamic scientist found himself there. Dr. Scherer is a world class geneticist and established leader in using genomic sequencing technology to improve the understanding of genetic risk underlying ASD, and how genomic discovery can be used to transform clinical practice.
Using Mohammed’s analysis, the team was able to identify thirty thousand exons in the human genome that were highly expressed during brain development. Mohammed adds, “The research was conducted for a year. The research was done mainly in my institution (Sickkids hospital) and the scientific experiments were conducted collaborating with several other labs/institutions. We have used experimental data from various sites, including Allen Brian Institute, human sequencing resource from Washington, etc.” He further adds, “New evidence suggests that hundreds of genes comprised with new mutations are susceptible to ASD. An interesting fact is that there was no pattern or common property between these genes. Through my work, published in Nature Genetics, I was able to crack that problem and found an exon level property between these genes and how they interact with the brain which shed new light to autism research. We have implemented our method in a way where we can test out other neuropsychiatric disease genes. Interestingly, schizophrenia and intellectual disability genes also followed the same exon level pattern.”

Mohammed’s discoveries brought him recognition worldwide from the Discovery Channel to the cover of South Asian Focus, etc. He adds, “I always wanted to do something in Bangladesh but never could for different reasons. We, as a nation, need to grow aware. There are millions of autistic/intellectually disabled kids who we need to identify with and recognize their needs. They are not disabled, their ability is just beyond our narrow perception.”

The next step for Mohammed would be functional characterization of these genes and use this property to infer the basis of human cognition. “I would love to use this model as a step forward to unravel the complexity of the human brain. This is a monumental task but I am sure it will lead to new, unexplored avenues.”

Nusrat Jahan Pritom

Nusrat Jahan Pritom is a journalist and drummer from Bangladesh. She calls herself Ninja Pritom due to her love for calisthenics