DOHA: Shafallah Medical Genetics Center (SMGC) is set to begin a research to find the genetic causes of autism by studying families with one affected child.
As part of its ongoing research programme ‘The Genetics of Autism,’ the Shafallah Medical Genetics Center (SMGC) is undertaking a research protocol that examines the genetic causes of autism by studying families with one affected child, utilising the latest advances in technology, including next generation DNA sequencing and genomic approaches, including whole genome sequencing.
The research protocol is methodically synchronised with investigational teams at the Hospital of Sick Children in Toronto, Canada and the Beijing Genome Institute, China with each team working with its own generated data.
The three teams, who met earlier this month at the American Society of Human Genetics meeting in San Francisco, collaborate on the approach, exchanging expertise, unifying analytic methods and comparing results.
The protocol will examine 23 families from Qatar, 33 families from North America and 33 families from China by applying whole-genome sequencing to the affected child and both parents.
This will allow for full genomes to be compared and for new mutations to be identified that may have occurred in the child that were not inherited from either parent.
This approach will help in identifying new mutations in known autism genes, as well as identifying new genes that play a role in autism.
“This comprehensive and extensively detailed approach has not been attempted before, and the results will undoubtedly be ground breaking,” said Dr Hatem El Shanti, Managing Director of the Shafallah Genetics Medical Center.
“The research protocol is well on its way, with all technical work being completed. The generated data is now being analysed by the SMGC team using different computer based analytic software. Sixty-nine whole genomes, that is one from each of the parents and one from the child of 23 families, represent an enormous amount of data.”
Hassan Ali bin Ali, Chairman of the Shafallah Center, said: “By working with families at Shafallah Center, SMGC can study a small, uniform and uniquely structured population that allows for further analyses and a higher probability of gene discovery. “It is hoped that this approach will identify the genetic cause of autism in about 50 percent of patients, currently the rate is 25 percent, and will identify novel genes that play a role in autism. We anticipate that results of the research will be published before the end of the year.” The Peninsula
