Research conducted in the Developmental Genetics Laboratory focuses on understanding the (epi) genetic mechanisms associated with intrauterine developmental stages and trying to understand how the maternal exposure to environmental factor(s) would result in fetal developmental disabilities, in addition to implementation of preventive intervention for developmental disabilities.
Our laboratory has a long-term history of conducting the following studies:
- Genetic studies of X-linked intellectual disability: Characterization of FMRP as an RNA-binding protein; newborn screening for Fragile X syndrome; and molecular genetic studies of X-linked intellectual disability
- Progeria: Study of the expression of the mutant protein and the pathogenic mechanism underlying progeria
- Batten disease: Molecular testing and pathogenic studies
- Perinatal health and developmental disabilities, with a focus on preterm birth
- Autism and autism spectrum disorders