Scientists from the Mohammad Bin Rashid University of Medicine and Health Sciences (MBRU) conducted the first whole genome sequencing in the UAE. The genome sequence was of an Emirati Boy with Autism Spectrum Disorder (ASD). The sequencing was carried out as part of a collaborative research with the Autism Programme at Al Jalila Children’s Speciality Hospital (AJCH) in Dubai Healthcare City. The sequencing was carried out by Dr Mohmmad Uddin, Assistant Professor of Human Genetics at MBRU’s molecular genetics lab. The team also included four students from the College of Medicine.
The human genome is the complete set of genes or genetic material present in a cell and is composed of DNA that is packed within 23 pair of chromosomes. A typical genome is 3 billion base pair long and has more than 20,000 genes. Reading or sequencing human genome is becoming critical for diagnostic and therapeutic purposes. Autism spectrum disorder (ASD) is a condition which has a genetic origin and through genome sequencing a good number of cases can have precision diagnosis.
Elaborating on the method used, Dr Uddin said, “The team and I are sequencing or reading a whole genome of a boy with autism through nanopore sequencing; a technology that allows long read DNA sequencing. It’s a new technology that’s more innovative than the established sequencing technologies, due to its portability and its ability to decipher a full spectrum of genetic mutations.”
Dr Uddin pointed out that whole genome sequencing and analysis of the genome was a complex process that required deployment of sophisticated sequencing technology and massive high performance computing power. “Comprehensive analysis of a genome usually take months to understand the mutations and its functional aspect. Although MBRU is fairly young, we’re proud of our internal infrastructure, our team of scientists and students who were all able to take on this research project, which is a first for the UAE. We hope that through our research we will be able to detect new genes that will aid precision diagnosis and future therapeutics of autism,” he added.
From AJCH, the co-principal investigator of the study, Dr Ammar Al Banna, Adjunct Assistant Professor of Psychiatry at MBRU, and head of Child and Adolescent Mental Health Centre of Excellence at the hospital, said: “Research indicates that autism is largely due to genetic factors and it is important to understand specific genetic factors associated with ASD in the UAE. The main objective of genetic testing at present is to reach a more accurate diagnosis, predict recurrence rates within the family and screen for other conditions, but providing personalised treatments based on the underlying genetic causes is the ultimate goal in future,” said Dr Al Banna.
Profesor Alawi Al Shaikh Ali, Dean of the College of Medicine, said, “We’re proud to be the first to sequence or read an entire genome in the UAE, and we’re particularly proud of the fact that four of our students from the College of Medicine are part of the research project.”
In line with the UAE’s current focus on genome projects, MBRU is implementing a genome-sequencing technology to streamline precision medicine for neurodevelopmental disorders within Dubai. Professor Dr Uddin and his team are planning to conduct a number of autism genome-sequencing research projects in collaboration with AJCH.
What is whole genome sequencing?
Whole genome sequencing is the process of determining the complete DNA sequence of an organism’s genome at a single time. As humans our genome, which is the complete set of genes or genetic material present in a cell, is composed of DNA that is packed within 23 pair of chromosomes. A typical genome contains 3 billion of these base pairs and has more than 20,000 genes. These genes reside in the 23 pairs of chromosomes within the nucleus of all our cells. Each chromosome contains hundreds to thousands of genes, which carry the instructions for making proteins.
Reading or sequencing human genome is becoming critical for diagnostic and therapeutic purposes. Conditions such as the Autism Spectrum Disorder (ASD) which has a genetic origin can be better diagnosed through genome sequencing.