Sobre Mi:
I have been the dean of research at San Juan Bautista School of Medicine for the past 4 months. We are establishing and developing the resear component at the school of Medicine. I am an MD who trained in Pedatrics at Mayaguez Medical Center and Clinical Genetics at Boston Children's Hosptal and finished a PhD in Molecular genetics in 2000. My previous work experience includes being the head of the genetic division at Ponce School of Medicine and now the associate dean for research at San Juan Bautista School of Medicine. My reserch interest are listed under proyect information but in general I am interest in the molecular etiologies of disorders with high prevalence in Puerto Rican population.
Información de proyecto:
RESEARCH INTEREST
1. Bardet-Biedl Syndrome DNA mutation analysis. Phenotype/genotype correlations.
2. BBS1 gene polymorphisms, leptins and obesity in syndromic and non-syndromic population.
3. Spondylothoracic Dysplasia Syndrome linkage analysis using restriction fragment length polymorphin and DNA of affected individuals. Linkage Dissequilibrium studies. We are trying to map the gene that causes this autosomal recessive disorder in Puerto Rican population. Gene cloning will be attempted once mapping is achieved. Genotype/ Phenotype correlations.
4. Spondylothoracic Dysplasia Natural History and Phenotype Characterization. We are trying to characterize the phenotype of STD and determine its natural history through detail physical analysis and prospective evaluation of patients with this disease
5. Skelethal Dysplasias particularly premesomitic genetic developpment of the vertebrae. Genetics of vertebral abnormalities and scoliosis.