Female doctor with 20 years of passion for 'finding errors' in Vietnamese genes

Editor's Note

Although not directly involved in examining and treating patients, doctors, nurses, and staff working in the laboratory and paraclinical sectors silently contribute to medicine every day. They are the ones who “name and shame” the root cause of diseases, helping colleagues give necessary instructions and guidance.

On the occasion of the 70th anniversary of Vietnamese Doctors' Day (February 27, 1955 - February 27, 2025), VietNamNet newspaper published a series of articles: " The silent work of the medical profession" to contribute to sharing and spreading touching stories of the profession and life of doctors.

Part 1: A female doctor has spent 20 years passionately "finding errors" in the Vietnamese genome , helping thousands of babies to be born healthy. The story is about a female professor at Hanoi Medical University who has spent years decoding the Vietnamese genome to find "error points" in the genes, giving hope to couples carrying recessive genes to have healthy children.

Rarely does anyone have a perfect set of genes. If they accidentally marry someone who also carries recessive genes, they will give birth to children with diseases that are at risk of disability or even early death.

During her two pregnancies, Ms. Nguyen Thi Hoa (residing in Yen Phong, Bac Ninh) had healthy pregnancies and natural births, but only 3 days after birth, the babies stopped breastfeeding, their skin turned purple and yellow, and then died. Ms. Hoa and her husband lost their children in shock and pain without understanding why. The lower-level hospitals could not give them an answer.

For many years, the couple had dreamed of having a healthy child like other families. At the Medical University, doctors discovered that they carried a recessive gene that disrupted the urea cycle, so the child inherited the gene from the parents and developed the disease. The doctor found the faulty gene, so Hoa and her husband underwent assisted reproductive technology to have a healthy child.

Professor, Doctor Tran Van Khanh - Director of the Center for Gene - Protein Research, Hanoi Medical University. Photo: NVCC.

They are one of many couples that Professor, Doctor Tran Van Khanh - Head of the Department of Molecular Pathology, Faculty of Medical Technology, Director of the Center for Gene - Protein Research, Hanoi Medical University has searched for recessive diseases in their genes.

From Ms. Hoa's story, VietNamNet newspaper had an interview with Professor Khanh to better understand the field of biomedical research .

Find faulty gene pairs

- More than 20 years ago, molecular medicine was still very new in Vietnam. Can you share the reason why you chose to enter this field?

I think that the profession chooses the person. I used to be a researcher in Japan, at the Center for Advanced Research on Genetic Diseases. Although this disease is not common, each child with the disease will have to endure great misfortune, which is a burden for both the family and society. I think that going into depth in research to decode and “catch” the disease gene will solve the problem at its root.

Every year, in Vietnam, there are about 41,000 children with congenital malformations, of which 80% are related to genetic diseases. Therefore, I have made efforts to research and learn the latest knowledge and technology in Japan to apply to patients in Vietnam.

Professor Khanh and his colleagues help thousands of Vietnamese families give birth to healthy children. Photo: NVCC.

When I returned home and met families with children who had congenital hemolytic anemia, muscular dystrophy, congenital metabolic disorders, or congenital immunodeficiency, I could clearly feel their pain. Parents with recessive genes were still healthy and worked normally, but had children who were not "healthy".

- Gene decoding to prevent genetic diseases for Vietnamese people is quite new compared to other fields. According to the Professor, what are the difficulties for this field?

Genetic research is difficult, diseases are rare, and the knowledge of families with children with congenital diseases is still limited. Many families do not seek help from experts, they continue to have children with diseases but think it is due to bad luck.

In addition, research funding for scientists is limited, so there are many difficulties for them to develop strongly in many directions. My research group at Hanoi Medical University in the recent past has been very fortunate to receive funding from a number of ministerial and state-level projects, so we have expanded our research direction to the field of genetic diseases.

When doing in-depth research on genetic diseases, my greatest wish is that patients understand the problem, seek advice from experts and clearly identify the root cause of the genetic error.

There are thousands of diseases related to genes, some of which I have only encountered 1-2 cases or have never encountered before. We have to decode the entire genome (more than 20,000 genes) to find the exact cause of the disease.

Doctor Khanh consults a patient. Photo: P. Thuy.

When I found the exact disease gene, I only wished to find a treatment for the children with the disease. But currently, gene therapy for genetic diseases is still facing many difficulties, only a few diseases such as Duchenne muscular dystrophy, spinal muscular degeneration are being clinically tested by scientists around the world and hopefully can be applied to patients in the future.

- Are there times when doctors and colleagues are stumped by a set of genes?

There are many, currently only 6-7 out of 10 cases can be found, about 30% of which have no clear cause. I also met families who had 2 consecutive children with the same disease but could not find the cause even though the entire genome was decoded.

You know science is never perfect. I try to advise couples in this situation to ask for eggs or sperm for assisted reproduction, hoping that the genes of the husband or wife will deviate from the genes of the egg or sperm donor so that they will give birth to a child without the disease.

Motivation is healthy babies

- With hundreds of families screened for genes at the center, which case impressed the doctor the most?

Nearly 20 years of working with families with children with congenital diseases, every story is painful. Identifying the faulty gene opens a new door. They will screen embryos that do not carry the disease gene to have a chance to have a healthy child.

For example, the story of a female teacher in Nam Dinh is very special. Before that, they had given birth to two sons who both died. For 10 years, the family traveled to Hanoi to find treatment and find the cause. When they came to Hanoi Medical University, we identified their faulty gene due to congenital fatty acid metabolism disorder, then coordinated with the Reproductive Support Center to screen and completely eliminate faulty embryos, at risk of disease, to select embryos without gene mutations. Finally, they welcomed a healthy baby.

Gene research is quite difficult and requires great perseverance. Photo: NVCC.

To this day, on special occasions, they send us pictures of their children. This is the result, the motivation for us to continue our work.

- People who carry the recessive gene are healthy and show no outward symptoms. So what should people do to find out if their spouse carries the disease gene?

According to published studies in the world, when decoding the genome of normal people, it is rare for anyone to have a perfect genome without errors. If you are unlucky enough to marry someone with the same disease gene, the probability of having a child with the disease will be very high.

I am always concerned about how to communicate to families with children with genetic diseases, helping them understand how to have healthy children if they want to continue having more children. Young people should have premarital screening before getting married, the cost is not expensive. In addition to detecting the risk of having children with genetic diseases, they can also know information about reproductive function.

For example, a blood test alone can predict whether a person has the gene for thalassemia, and genetic testing can then be used to determine the exact cause.

- From a new specialty, what do you think about molecular medicine in Vietnam in the future?

Up to now, molecular medicine in our country has gained a certain position. From having to send each sample to Japan and the US for testing, now we can almost do everything domestically.

We have had many experts who have been trained abroad return, in addition to many postgraduate students such as masters and doctoral students who have done in-depth research projects in the field of gene technology. After graduation, they return to their work units to develop the professional capacity they have been trained during their thesis and graduation dissertation, so I hope that in the near future, this research direction will develop strongly in Vietnam.

Professor Tran Van Khanh and his research team have successfully built gene mutation maps for many genetic diseases in Vietnam such as Duchenne muscular dystrophy, Wilson's (genetic diseases caused by copper accumulation in the body, mainly in the liver, brain, blood, joints), Hemophilia (blood clotting disorder), Thalasemia (congenital hemolytic disease), Congenital adrenal hyperplasia (abnormal external genitalia - pseudohermaphroditism, hypertrophy...), Osteogenesis imperfecta (brittle bone disease),...

The above research results are an important scientific basis for genetic counseling, prenatal diagnosis, and pre-implantation embryo diagnosis to prevent giving birth to children with genetic diseases.

Vietnamnet.vn

Source: https://vietnamnet.vn/nu-bac-si-20-nam-dam-me-bat-loi-bo-gene-viet-2374656.html