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1

Rare Diseases - A Major Challenge for Medicine in Diagnosis and Treatment

Created date : 28-03-2024

Updated date: 04-09-2024

Author: Gentis

Genetic disorders, undiagnosed and rare diseases are on the rise globally. According to the World Health Organization, the mortality rate due to congenital anomalies in children under 5 years old in Vietnam in 2015 was 16%, ranking second only to preterm birth. This poses a significant challenge to the goal of reducing child mortality and alleviating the burden on society.

This information was shared at the 4th Vietnam - US Conference on Medical Genetics and Rare Diseases, organized by the Vietnam National Hospital of Pediatrics in Hanoi on March 25, 2024.

Currently, there are approximately 6,000 known rare diseases affecting 300 million people worldwide - equivalent to the entire population of the United States. Of these, 80% are genetic in origin, with fewer than 200,000 individuals diagnosed. Due to their rarity and complexity, rare diseases present significant challenges for medicine in terms of diagnosis and treatment.

The 4th Vietnam - US Conference on Medical Genetics and Rare Diseases attracted the participation of over 300 delegates.

In recent years, we have witnessed remarkable technological advancements in the diagnosis and treatment of genetic diseases. Notably, next-generation sequencing (NGS) and enzyme replacement therapy (ERT) have emerged as promising tools.

To provide updates on the latest diagnoses and treatments for genetic and rare diseases in Vietnam and globally, the Vietnam National Hospital of Pediatrics organized the 4th Vietnam - US Conference on Medical Genetics and Rare Diseases.

Speaking at the opening ceremony, Mr. Phan Huu Phuc (Deputy Director in charge of medical affairs at the Vietnam National Hospital of Pediatrics) warmly welcomed distinguished guests and colleagues from both within Vietnam and internationally. Mr. Phuc shared: "Medical genetics has been playing a crucial role in both clinical practice and research. Updating knowledge and sharing experiences through scientific conferences like this are essential."

Mr. Phan Huu Phuc (Deputy Director in charge of medical affairs at the Vietnam National Hospital of Pediatrics) delivers the opening speech at the conference.

Through this conference, Mr. Phuc expressed his hope to foster more opportunities for scientific research collaboration and international cooperation in the field of Pediatrics, aiming to help Vietnamese physicians stay abreast of the latest advancements worldwide.

The 4th Vietnam - US Conference on Medical Genetics and Rare Diseases boasts a comprehensive agenda, focusing on five key themes:

Cancer Genetics and Preimplantation Genetic Testing (PGT)
Complete Genome/Exome Sequencing for Rare and Undiagnosed Diseases; Enzyme Replacement Therapy
The Power of Complete Genome Sequencing - Discovering Novel Variants in Precision Medicine
Training in Medical Genetics; Monogenic Diseases and Gene Therapy
Genetic Counseling and Prenatal Diagnosis

The speakers and chairs participating in the conference are all leading experts with extensive experience in Vietnam, alongside renowned pediatric specialists from the University of Washington. This conference serves as an invaluable opportunity for delegates and physicians to update their knowledge and exchange experiences on cutting-edge techniques implemented in the diagnosis and treatment of genetic and rare diseases.

Pham Dinh Minh, representing GENTIS, participates in the conference.

As a co-organizer of this year's conference, GENTIS showcased its comprehensive genetic testing ecosystem for the Vietnamese population, utilizing next-generation sequencing technology. Notably, this technology is playing a vital role in assisting clinicians in accurately diagnosing and treating patients with rare diseases.

With the goal of providing the best genetic analysis solutions for reproductive health for patients and doctors in Vietnam, GENTIS has continuously researched, developed, and applied PGT-M technology for preimplantation genetic testing for rare diseases. Not only effective in diagnosing Thalassemia, PGT-M also aids in diagnosing many other rare single-gene disorders in embryos, such as spinal muscular atrophy, Duchenne muscular dystrophy, Hemophilia, achondroplasia, congenital adrenal hyperplasia, spherocytosis, Marfan syndrome, autosomal dominant polycystic kidney disease, aniridia, congenital deafness, and more.

With a laboratory system that meets ISO 9001:2015 and ISO 15189:2012 standards in Hanoi and Ho Chi Minh City, and the capacity to perform tens of thousands of tests annually, GENTIS remains committed to developing genetic technologies tailored to the Vietnamese population, bringing significant value to the diagnosis and treatment of rare diseases in particular and diseases in general. Notably, GENTIS is increasingly asserting its leading position in the field of genetic analysis, maintaining the complete trust of its valued customers and partners.