Advancing Human Genetics
The CGD is creating a future where doctors can identify, plan for and even correct genetic defects before a child is born. Dr. Michael Bamshad and his colleagues have helped develop a technique that makes it faster and easier to identify disorder-causing genes, and are working toward therapies that disarm these genetic disorders.
The major goal of this project is to apply next-generation resequencing to identify disease-causing variants influencing a key set of pediatric and adult lung diseases. The technology we will apply involves massively parallel resequencing of all protein-coding sequences in the human genome (the “exome”).
Emerging pathogens have a unique potential to be weaponized as bioterrorism agents because most humans have no immunity to such infections. The human response to these pathogens varies from aborted infection to overwhelming disease and death. This variation is determined by both environmental factors and host genetic factors (i.e., susceptibility alleles). A significant gap in our knowledge is that most of these genetic factors are unknown. Our goal is to identify alleles influencing susceptibility to severe West Nile virus (WNV) disease using a candidate gene approach.
The goal of this project is to investigate the etiology and pathogenesis of congenital contractures. This will be accomplished by characterizing the extent to which genes that encode sarcomeric proteins of fast-twitch myofibers cause contractures in a group of syndromes collectively called the distal arthrogryposes (DAs).
Our lab is investigating the etiology and pathogenesis of malformations of the heart, concentrating on abnormalities of the left side of the heart and outflow tract defects. The specific research strategy is to identify gene variants that influence risk for heart malformations, especially gene variants causing Mendelian heart malformation disorders, and subsequently compile and analyze the clinical findings in these patients and their families in order to explore the relationship between specific gene mutations (i.e., genotype) and clinical characteristics (i.e., phenotype).