The major research focus of the Molecular Genetics Laboratory is the fragile X syndrome. Our research into fragile X syndrome includes diagnosis of individuals and families 1) to determine Fragile X status, 2) for prenatal diagnosis, 3) for correlation of DNA structure with specific cognitive deficits in some carriers, 4) for analysis of the mutation mechanism, and 5) for translational regulation of the gene product. These analyses are part of the diagnosis of fragile X status performed by IBR’s Specialty Clinical Laboratories and Molecular Diagnostic Laboratory.
Projects conducted by the laboratory include the following:
- Feasibility of fragile X newborn screening by qFMRP test with clinical follow-up: In July 2018, the Molecular Genetics Laboratory and the Fragile X Center at IBR initiated a multi-site, hospital-based Fragile X newborn screening program on Staten Island. This pilot program recruited 1,000 infants during the first year. The primary goal of the program is the early identification of individuals affected by FMR1 gene abnormalities that would result in low FMR1 gene product (FMRP), and to offer clinical evaluation with early intervention follow-up.
- Genotype-specific expression of FMRP during prenatal and early neonatal stages of human development: This project is exploring the dynamics of, and differences in, prenatal FMRP expression in individuals with FMR1 premutations and full mutations.
- Molecular-clinical correlation of fragile X syndrome severity in FMR1 full-mutation females (project in development)
The Molecular Genetics Laboratory was involved in development of a cost-efficient antibody-based quantitative method for evaluation of fragile X protein (qFMRP) in collaboration with IBR’s Monoclonal Antibody Facility and former Neuromodulation Laboratory. Peripheral FMRP expression in various FMR1 genotypes requires understanding of genotype/phenotype correlation for people who carry expansions of the fragile X triplet repeat. Because of the lab’s involvement in clinical diagnosis and molecular research, we are able to interpret the data from numerous cases and focus on careful assessment of the molecular-clinical correlations in children with premutation and full mutation alleles. In collaboration with several research groups, we work to establish normal/abnormal margins of the protein expression levels with respect to various FMR1 genotypes.