Publications by authors named "Loc Phuoc Doan"
Article Synopsis
- Accurate profiling of recessive diseases in the Vietnamese population is crucial for developing effective carrier screening programs, but minorities are often underrepresented in genetic research.
- A comprehensive study analyzed genetic data from 985 Vietnamese individuals, identifying 118 recessive diseases and 164 variants, with some diseases having significantly higher carrier frequencies compared to global populations.
- The research revealed three prevalent diseases—beta-thalassemia, citrin deficiency, and phenylketonuria—with notable carrier rates, and introduced seven novel pathogenic variants, enhancing the understanding of recessive disorders specific to Vietnamese individuals.
Int J Neurosci
December 2022
Article Synopsis
- - Alzheimer's disease (AD) is increasing globally, with early-onset AD (EOAD) affecting those under 65, often linked to genetic mutations.
- - This study conducted genetic analysis on 51 Vietnamese EOAD patients, identifying four significant mutations in neurodegenerative genes and revealing a potential mutation unique to the Vietnamese population.
- - The research emphasizes the importance of genetic testing for EOAD and advocates for more genetic data collection within the Vietnamese community to better understand and address the disease.
