Project description:Whole exome sequencing of families with Congenital Heart Defects (182 trios). Collaboration with David Brook, University of Nottingham.
Project description:Exome sequencing of families with Congenital Heart Defects of diverse sub-phenotypes. Comprises both parent-offspring trios for sporadic cases and multiplex families. Collaboration with David Brook, University of Nottingham. Funded by the British Heart Foundation.
Project description:Exome sequencing of families with Congenital Heart Defects of diverse sub-phenotypes. Comprises both parent-offspring trios for sporadic cases and multiplex families. Collaboration with David Brook, University of Nottingham. Funded by the British Heart Foundation.
Project description:We have demonstrated that the miR-182 level, in addition to being significantly increased in colon cancer compared to adjacent normal colon tissue, is also significantly increased in African American(AA) compared to Caucasian American (CA) colon cancer. Since miR-182 has been previously associated with decreased survival in colon cancer patients and with increased liver metastases, this observation supports the concept that biological differences between AA and CA colon cancers may contribute to AA disparities in colon cancer survival. We aimed to identify miRNAs that were associated with effects of both tumor and race by generating Agilent miRNA expression profiles on paired colon cancer and adjacent normal colon collected from AA and CA colon cancer subjects. For the 30 paired Stony Brook University (SBU) colon cancer and adjacent normal colon samples, attempts were made to control for other covariates such as age, colon cancer location, stage, BMI and smoking in the selection of the CA samples . However no attempt was made to control for the other covariates in the 30 paired Washington University (WU) colon cancer and adjacent normal colon samples.
Project description:Molecular Signatures of cardiac defects in Down syndrome lymphoblastoid cell lines. In this study, we want to identify genes and pathways specifically dysregulated in atrioventricular septal defect and /or atrial septal defect + ventricular septal defect in case of trisomy 21. Total RNA obtained from DS lymphoblastoid cell lines without congenital heart disease compared to cell lines from DS with congenital heart disease.
Project description:Non-syndromic congenital heart defects (CHD) are occasionally familial and left ventricular out flow tract obstruction (LVOTO) defects are among the subtypes with the highest hereditability. The aim of this study was to evaluate the pathogenicity of a heterozygous ERBB2 variant R599C identified in three families with LVOTO defects.
