Vietnamese scientists are working to uncover the genetic causes of several groups of rare diseases, with newly established genomic datasets expected to lay a foundation for precision medicine and improved healthcare outcomes.
Globally, around 7,000 rare diseases have been identified and described, affecting an estimated 300 million people. About 80% of these conditions are caused by genetic factors, with 58% detected in newborns and young children. Rare diseases are responsible for approximately 30% of deaths among children under five. However, only about 200,000 cases have been successfully diagnosed in terms of underlying causes, and merely 5% of rare diseases currently have available treatments.
In Vietnam, about 100 rare diseases have been reported, affecting roughly 6 million people. Nevertheless, genetic data related to rare conditions such as skeletal dysplasia, disorders of sex development, and congenital hypopituitarism remain limited. Due to overlapping symptoms among different conditions, diagnosis through clinical assessment and conventional testing methods faces significant challenges, particularly for genetically driven rare diseases.
In response to this reality, Prof. Dr. Nguyen Huy Hoang, Deputy Director of the Institute of Biology under the Vietnam Academy of Science and Technology, and his research team conducted a project titled “Genetic mutation analysis in Vietnamese patients with selected rare diseases using whole-exome sequencing technology.” The project, implemented from 2022 to 2024, aims to clarify the genetic causes of these diseases within the Vietnamese population.
The analysis revealed hundreds of genetic variants in genes associated with the studied disease groups. After screening based on frequency, predicted functional impact, and comparisons with international databases as well as Vietnamese genomic data, the research team identified 18–19 clinically significant variants distributed across 14–17 different genes, with clear inheritance patterns observed within affected families.
According to the expert, the study’s significance lies not only in the number of variants identified but also in its novel scientific contributions and practical applicability. The team successfully developed five whole-exome sequencing datasets, along with corresponding pathogenic variants, for five different groups of rare diseases.
The findings have proven effective in identifying disease-causing variants in patients, while also providing a scientific basis for doctors to conduct genetic counselling for patients and their families.
In addition, the study has helped build a genetic database specific to the Vietnamese population. To further develop this work, greater investment from the State and businesses is needed, enabling expansion to larger patient cohorts and a wider range of diseases, Hoang stated.
Regarding future directions, he said the team will continue implementing projects to collect and decode genomes, identify disease-related variants in larger patient groups and across more rare diseases, and ultimately develop a comprehensive genomic database for Vietnamese patients with rare conditions to support treatment.
Data on rare diseases will help create screening panels for early detection, thereby reducing the burden on affected families and society when a child is born, he added./.
