HÀ NỘI — Moved by the pain of parents whose children are born with birth defects and health problems, doctor Trần Vân Khánh has spent the last twenty-odd years doing research in the field of gene therapy and genetic diseases.

Born into a family of doctors, after graduating from a medical university in 1996, Khánh worked for four years at the Institute of Biotechnology and Việt Nam Academy of Science and Technology. It was around this time that she first got involved in research on molecular biology, especially mutations in genetic diseases.

In 2000 she went to Japan to get a doctoral degree. During her six years at the Faculty of Medicine at Kobe University, Khánh focused her study on prenatal diagnosis of Duchenne muscular dystrophy (DMD) to prevent genetic disorders. (DMD is the most common fatal genetic disease in the world. It gradually reduces muscle strengths in boys between the ages of 6 and 11 and causes many sufferers to be confined to a wheelchair by 12 years old).

Returning to Việt Nam, Khánh continued doing research on prenatal diagnosis of other genetic diseases, helping to detect people who carry the “bad genes” and help young parents avoid high-risk pregnancies. About 1,000 patients in Việt Nam and their family members have benefited from her genetic therapy.

“It tugs at my heartstring every time I see the pain and struggle of parents whose children are born with genetic diseases,” Khánh told Kinh tế & Đô thị (Economic & Urban Affairs) newspaper. “I want to do more to help them.”

“I felt as nervous as the parents when their prenatal examination result came and showed that their babies inherited their diseases,” she said.

But it’s not always bad news. Khánh was impressed by a couple from Bắc Giang Province, who she helped get pregnant with in vitro fertilisation process two years ago. The wife had Hemophilia A (a genetic deficiency which causes increased bleeding) from her father. They had an abortion during the first pregnancy because the fetus carried the bad gene.

When she got pregnant the second time, Khánh conducted amniocentesis – a procedure in which a small amount of amniotic fluid is removed from the sac surrounding the fetus for testing.

“We all burst into joy when the results came and showed that the fetus carried the ‘normal’ gene,” Khánh said.

The baby boy was born perfectly healthy. Sometimes the couple sends Khánh his photos to show her how he has been growing.

“I felt so happy looking at those photos, as if I was his mother,” Khánh said. “My efforts had paid off.”

In the past 10 years, the devoted doctor has led and participated in 29 research projects and has had 170 research articles published in domestic and international research journals. Together with her team, she created a map of genetic mutations of genetic diseases commonly found in Vietnamese patients.

Khánh is currently working to make preimplantation genetic diagnosis (PGD) – a procedure used prior to implantation to help identify genetic defects within embryos – feasible in Việt Nam.

She is also involved in research projects about the treatment of the Brugada syndrome, a condition that causes a disruption of the heart’s normal rhythm. “I hope our studies will help reduce the risk of sudden death for patients and their family members that carry the same gene,” she said.

With her contributions to science and society,  Khánh was among the two Vietnamese female scientists awarded the Kovalevskaya Award on March 5. The prestigious prize honours the most outstanding female scientists who have gained remarkable achievements in the research and application of science.

Her research results received critical acclaim from domestic and international medical scientists, said Dr Tạ Thành Văn, vice principal of the Hà Nội Medical University where Khánh is head of the Faculty of Molecular Pathology and Deputy Director of the Gene-Protein Research Centre.

 “They are highly practical and applicable, bringing direct benefits to patients,” he said.

It’s hard to have work-life balance when Khánh often leaves her laboratory at 7 or 8 pm, but she said the support from her colleagues and family got her through.

“We collaborate closely within the university and with the hospitals,” she said.

“My husband understands my job’s demands since he himself is a researcher,” she added. “My mother often takes care of the household chores so that I have more time for work.” — VNS