According to the World Health Organization (WHO), there are about 7,000 rare diseases worldwide, of which 80 percent have genetic components and 75 percent affect children (Bavisetty et al., 2013).

Scientists of the Genome Research Institute meet the doctors of the Central Pediatric Hospital 

The research on genetic modification in patients affected with rare syndromes and diseases in Vietnam with next-generation gene sequencing technology is being carried out at the Genome Research Institute in the 2018-2020 period.

Dr Nguyen Huy Hoang, Director of the Genome Research Institute, Head of the project, said that the genome sequencing of the specimens from Central Pediatric Hospital and Hanoi Medical University had contributed to the accurate diagnosis and treatment of patients with a number of rare diseases.

Maple syrup urine disease

Patients with maple syrup urine disease appear normal at birth, but within 12 hours after birth there is a smell of syrup or burning sugar in the urine. If the problem cannot be detected and treated promptly, they will die. In the world, 1 out of 185,000 newborns are affected.

Applying new-generation genome sequencing technology, scientists have discovered that mutations on BCKDHB and DBT genes in patients’ families in Vietnam are the cause.

“With genetic research, we help doctors make early diagnosis, give genetic counseling to patients' families, and children bearing genetic disease genes from their parents, so that when growing up, they can avoid marrying people bearing the same genes to reduce the rate of children born with the genetic disease,” Hoang said.

Seckel syndrome

Seckel syndrome is an extremely rare inherited disorder, belonging to the group of Primordial Dwarfism diseases, characterized by growth delays. Patients have low weight at birth and later small stature. The incidence rate of this disease is 1 in 10,000 people.

According to the World Health Organization (WHO), there are about 7,000 rare diseases worldwide, of which 80 percent have genetic components and 75 percent affect children (Bavisetty et al., 2013).

The full genome sequencing of two patients diagnosed with Seckel syndrome discovered three new mutations on the PCNT gene.

Cornelia de Lange

Cornelia de Lange is a rare congenital syndrome that causes growth retardation, mental retardation, limb defects, and typical deformities on face and other disorders.

Scientists discovered spontaneous mutation in NIPBL gene that causes Cornelia de Lange syndrome in Vietnamese patients, including a new mutation that has never been reported and published.

Glycogen disease

Glycogen storage disease is a group of congenital disorders in which an abnormal amount or form of glycogen stores in the liver or muscle causing manifestations such as hepatomegaly, hypoglycemia, and muscle weakness.

Urea metabolic disorder

Scientists have succeeded in the entire genome sequencing to identify mutations in the OTC gene that causes a deficiency of ornithine transcarbamylase enzyme, the reason behind urea cycle metabolism in three female patients.

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