30th May, 2914. GNOBB feel a good deal of pleasure to announce that Dr. Mohammed Uddin, a Bangladeshi scientist and a GNOBB member is the lead author of the paper titled “Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder”, published online in the May 25, 2014 issue of the prestigious journal Nature Genetics. On behalf of GNOBB and on my own behalf, we would like to congratulate him heartily for his and his team’s outstanding contribution for unraveling one of the basic causes of autism. Dr. Uddin, who did his PhD in human genetics at the Memorial, is currently a research fellow at The Hospital for Sick Children (SickKids) in Toronto, under the supervision of Dr. Stephen Scherer.
The paper published recently in Nature Genetics is on autism spectrum disorder (ASD), which impacts one in every 68 children. “We know very little about the contributory risk factors of ASD,” explained Dr. Uddin. “Multiple evidences showed there is a strong genetic contribution to this condition. Most studies showed that rare mutations are a major contributory factor for ASD. In most cases, each affected individuals have their own mutations and it is hard to capture the overall picture of these mutations and their role in autism. This paper is the first of its kind to tackle this complexity and shows a common pattern of these individual de novo/rare mutations.” Dr. Mohammed Uddin, determined that the key to solving the enigma of the autism mutation code, resides in recognizing small segmentsi.e., exons) of genes that are both “highly conserved” in human evolution and “turned on” during early brain development.
Dr. Uddin applied integrated genomics approach in the paper and identified the genetic basis of rare/de novo mutations in autism. The analysis used both population scale mutation data and developmental brain transcriptome dataset for the core analysis.
This paper reports a novel relationship between gene mutation and its expression profile,” said Dr. Uddin. “The authors showed how this property is used to unravel the enigma of the autism code. This new study will help understand the genetic basis of autism as well as other brain related disorders.”
For comments on this post please see below:
Dr. Uddin’s paper explores the relationships between de novo mutations and brain expressed exons, a finding critical to establishing genotype-phenotype relations. This discovery helps us to better understand the genetic basis of psychiatric illness, especially ASD, Autism, OCD and Schizophrenia.
Congratulations to Dr.Uddin for his novel findings that will help in diagnosing complex neuro- psychiatric disorders.
Genetics and Genomic Biology