Desperate phone calls and hundreds of hours of counseling for families whose children were born with genetic diseases were the driving force for Assoc. Faculty of Medical Engineering, Deputy Director of Gen-Protein Research Center, Hanoi Medical University) continues its steps on the path of scientific research, to help life have more healthy babies.
Currently, in Vietnam, when it comes to genetic diseases, especially those related to the genome, the acceptance level of the community is still very limited. However, contrary to the little awareness of society, the reality is that a very large number of patients have to be treated for genetic diseases, and this number is increasing year by year. And many medical facilities across the country are facing this reality together.
Graduated from Medical University in 1996, Doctor (BS) Tran Van Khanh returned to work at the Institute of Biotechnology, Vietnam Academy of Science and Technology. Here, Dr. Van Khanh had access to research work on molecular biology in medicine, especially research on mutations in genetic diseases.
With recessive gene characteristics and cannot be recognized by conventional diagnoses, but can only be detected through genetic testing, many cases
In recent years, many couples, and many cases of patients are diagnosed and found to have inherited genetic diseases. These diseases appear and flare up in patients of all ages, from infants, adolescents, and adults.
“Like many other families in the same situation with a child with a similar disease, parents are not aware of the disease in their child because there are no unusual symptoms shown. outside.
With genetic diseases, it is very diverse and quite complex. There are diseases that can be detected through ultrasound, abnormal screening, but there are diseases that are born completely normal and are only detected when the child is 4-5 years old. There are many families that come to us and have questions like why no one in our family is sick but why did I give birth to a sick child, then we understand that the body carries a recessive gene that when married to someone with the same pathogens will give birth to sick children,” said doctor Van Khanh.
In the 2000s, Dr. Tran Van Khanh was allowed to work as a PhD student in Japan, at that time, most of the genetic diseases in Vietnam did not have the most appropriate genetic testing and counseling. In 2006, she returned home with her PhD and joined the research team of the Center for Gene-Protein Research, Hanoi Medical University, and conducted research on Duchenne muscular dystrophy.
Witnessing first-hand, many families have up to four generations of children born with this genetic disease. In particular, many times she also received desperate phone calls from families who gave birth to children with this disease.
Dr. Van Khanh's research team has successfully researched gene therapy in the direction of removing gene fragments containing mutations and became the first Vietnamese scientist to successfully deploy gene therapy for muscular dystrophy. Duchenne at the cellular level, successfully identifying mutations in many cases of Duchenne muscular dystrophy.
This result has helped the research to expand on more than 10 different genetic diseases in Vietnam. Therefore, she wishes to be able to further research and apply high technologies in disease diagnosis and treatment, with the desire to help mothers give birth to completely healthy children.
In parallel with the development of health examination and diagnosis work in the world, in Vietnam at the present time, the need to implement measures to support reproduction in our country has also gained importance. mind of the people. Although this number is not large, it partly shows the interest of the community and is a right direction. In the near future, this will be a technical process with wide applicability and real results for people's health, especially in the next generations.
Along with that, Dr. Van Khanh's research team has coordinated with units and hospitals to conduct embryo diagnosis using genetic analysis techniques, selecting embryos that are completely free of chromosomal and genetic abnormalities. for implantation back into the mother's uterus. This is the stage of early diagnosis and screening, making sure most babies are born without genetic diseases.
Doctor Van Khanh shared: “In the past, it was more difficult to diagnose, often only diagnosing single-gene diseases. However, thanks to the new generation of gene sequencing technology, with complex and multi-gene diseases, we can apply this sequence to find the cause of mutations in patients. Even with complex diseases, difficult to diagnose, with unclear symptoms, we can apply this sequence to decode the entire genome of over 20000 disease-causing genes."
Previously, in order to perform gene sequencing techniques to identify genetic diseases, families had to go to Thailand or other developed countries to perform at a cost of up to 500 million VND. But so far, these techniques have been successfully implemented in Vietnam and this has cut costs in half.
And thanks to these contributions, many patients and family members have been diagnosed by genetic engineering, detected healthy carriers of disease genes and diagnosed before birth, helping many families to have healthy lives. healthy child and serve as a scientific basis for gene therapy research to expand to other diseases in Vietnam in the future.
At the present time, she is continuing to promote research and application of umbilical cord blood collection in children born after birth to treat congenital hemolysis (Thalassaemias) for sick children with the same family.
- Organization of production: Vietnamese-English
- Perform: Trung Hieu
- Present: Thien Uyen
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