Local specialists make breakthrough in genetic roots of autism

Cai Wenjun
Through genetic chip technology and high-throughput sequencing, doctors in Shanghai can identify the genetic causes for 30 to 40 percent of patients with autism.
Cai Wenjun

Local medical specialists are able to identify the genetic causes for 30 to 40 percent of autism spectrum disorders, doctors from Shanghai Children’s Medical Center said on Thursday.

Autism spectrum disorders are a group of neurodevelopmental disorders characterized by impaired social interaction and communication skills, and are often accompanied by other problems like repetitive or stereotyped behavior.

A large amount of research has found mutated genes in patients with autism. Identifying genetic causes of autism will improve clinical diagnosis and targeted treatment research, say experts.

“The reasons for autism are very complicated. It is related with genetic, environmental and other causes. Through genetic chip technology and high-throughput sequencing, we can identify the genetic causes for 30 to 40 percent of patients with autism,” said Dr Wang Jian, director of Shanghai Children’s Medical Center’s genetic molecular diagnosis department. “Knowing the genetic causes can help clinical diagnosis and give more targeted direction to treatment and rehabilitation, as well as direction for the family if the parents want to have a second child.”

“With the genetic research, we have also started to look for targeted medicines and animal models for genetic treatment,”he added.

Local specialists make breakthrough in genetic roots of autism
Shanghai Children's Medical Center / Ti Gong

Dr Wang Jian, director of Shanghai Children’s Medical Center’s genetic molecular diagnosis department

The hospital is one of the first to introduce genetic sequencing in the nation. So far it has identified over 10,000 cases of inherited diseases through genetic technology, including some 5,000 cases of rare inherited diseases. The lab also identified genetic causes of six rare inherited diseases for the first time in the world.

Local specialists make breakthrough in genetic roots of autism
Shanghai Children's Medical Center

A joint unit between Shanghai Children’s Medical Center and France-based bioMérieux was established on Tuesday to streamline the precise diagnosis and treatment for children’s infectious diseases.

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