Researchers aim to block inherited disease at the genetic level
Local experts are conducting groundbreaking research on the mechanisms of developmental and genetically inherited diseases.
Studies by experts from Shanghai International Peace Maternity and Child Health Hospital won first prize at the recent Shanghai Science and Technology Awards.
The incidence of inborn congenital disease like congenital heart disease and Down syndrome is 5.6 percent in China.
In addition to such inborn deformities, tardive deformities — which include tumors, cardiovascular and metabolic diseases like hypertension and diabetes in adulthood — are also considered developmental diseases.
“The two types of diseases seriously impact people’s life and health and the population quality,” said Dr Huang Hefeng, president of Shanghai International Peace Maternity and Child Health Hospital and leading expert of the research project. “Our research means to change medical service from passive defense to active attack.”
Their project uses assisted reproductive technology to study the generational passage of developmental metabolic and cardiac diseases, and provide clinical alerts and adoption to improve the health of offspring. Such research aims to provide scientific evidence to prevent chronic disease from the start of life and conduct precise prevention and control on developmental and inherited deformities.
“Previously, diagnosis and treatment of inborn deformity only started after the baby was born. But treatment of most inborn deformities and developmental diseases are limited and treatment effects can’t meet parents’ expectations,” Huang said. “So we put our research on early prevention, control and intervention, which means on the embryo.”
In recent years, the hospital has used pre-implantation genetic screening and diagnosis technology to block several genetically inherited diseases and ensure the delivery of healthy babies. So far, the hospital is able to diagnose some 300 genetic diseases and prevent their passage to offspring.
The Shanghai Key Lab on Embryonic Origins and Shanghai Jiao Tong University School of Medicine’s clinical institute on inborn deformity and rare disease have been established at the hospital, which also set up a 5G-based diagnosis and treatment platform with nearly 30 medical facilities in the nation to offer reproductive consultation and service.
“Inheritance and mutation coexist at the same time. When we intervene in rare diseases, people’s genetic mutations are taking place as well and its speed is much quicker than our intervention. So targeted and precise prevention and control never end,” Huang said.