News at Medicine - May 2014 - Grad student alumnus lead author on paper in Nature Genetics

 
Grad student alumnus lead author on paper in Nature Genetics
May 28, 2014
 Dr. Mohammed Uddin, a graduate student alumnus of the Genetics Program in the Faculty of Medicine, 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.
 
Dr. Uddin, who did his PhD in human genetics at Memorial under the supervision of Drs. Proton Rahman and Michael Woods, is currently doing a postdoctoral fellowship at The Hospital for Sick Children (SickKids) in Toronto, under the supervision of Dr. Stephen Scherer. 

The paper published 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 show a common pattern of these individual de novo/rare mutations.” 
 
Dr. Uddin applied integrated genomics approach in the paper and identifies the genetics 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.”