Gene Expression and Health Risks

An important area of research involves learning how gene expression influences health and disease risks. The parts of the genome that regulate gene expression are cis-regulatory elements. Gregg and colleagues took an unusual approach to discover these cis-regulatory elements by analyzing the genomes of species that evolved disease resistance “superpowers”. Continue reading → Gene Expression and Health Risks

Analyzing Human Pedigrees to Advance Genetics and Health

Well curated human pedigrees like the iconic pedigrees maintained by the Centre d’Etude du Polymorphism Humain (CEPH) provide an invaluable resource for fundamental discoveries in human genetics and health. The CEPH collection includes families collected by R. White (Utah), J. Dausset (French), J. Gusella (Venezuelan), and J. Egeland (Amish). Continue reading → Analyzing Human Pedigrees to Advance Genetics and Health

Cellular Origins of Pancreatic Cancer

Our pancreas has two main functions, endocrine control of blood sugar and exocrine production of the enzymes that digest our food. These enzymes are synthesized by pancreatic acinar cells and transported to the intestine through a network of pancreatic duct cells. Pancreatic cancer, the third deadliest cancer in the U.S., was previously assumed, based on histology and gene expression, to arise from duct cells. Continue reading → Cellular Origins of Pancreatic Cancer

Defining Essential Regions of the Human Genome

There is a longstanding interest in identifying the subset of our genome that is the most essential to life and normal development. Quinlan and colleagues studied genetic variation detected among >120,000 human exomes to reveal focal coding regions that lack variation in healthy individuals. Continue reading → Defining Essential Regions of the Human Genome

Diaphragm Development and Congenital Hernias

The diaphragm is an essential mammalian skeletal muscle, as it is required for respiration and serves as a barrier between the thoracic and abdominal cavities. The Kardon lab used sophisticated mouse genetic studies to establish that the diaphragm arises from multiple embryonic tissues. Continue reading → Diaphragm Development and Congenital Hernias

Rapid Identification of Microbial Pathogens

The rapid identification of microbial pathogens is critical for timely and successful treatments. Improved capabilities in pathogen identification were the focus of a collaboration between physicians and scientists in the departments of Biomedical Informatics, Human Genetics, and Pathology. Continue reading → Rapid Identification of Microbial Pathogens

Regulation of Innate Immune Pathways

Cells must regulate their innate immune pathways so that they can respond rapidly to pathogens, yet avoid aberrant activation that can lead to inflammation. The evolution of these regulatory mechanisms remains to be understood. Continue reading → Regulation of Innate Immune Pathways