Causes of Type 1 Diabetes

More than 1 million Americans suffer from Type 1 diabetes, which occurs when a patient’s immune T cells attack their pancreas. Understanding why this occurs is key to developing treatments that target the cause and not just the symptoms of diabetes. Continue reading → Causes of Type 1 Diabetes

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

An EHR Clinical Support App for Monitoring Bilirubin Levels

Electronic health records (EHR) are a rich source of clinical and research data, but clinicians and researchers often cannot access this information efficiently. The Department of Biomedical Informatics has developed the ReImagineEHR initiative to improve the functionality of electronic health record systems. Continue reading → An EHR Clinical Support App for Monitoring Bilirubin Levels

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

Structures and Mechanisms of Protein Remodeling Machines

When a cellular protein has done its job or lost its utility, it should be removed, recycled, or remodeled. These tasks are performed by members of the ubiquitous family of AAA ATPases (ATPases associated with diverse cellular activities) that convert the energy of ATP hydrolysis into mechanical forces that can unfold protein aggregates, degrade unwanted proteins, and remodel protein complexes. Continue reading → Structures and Mechanisms of Protein Remodeling Machines

Pinpointing Environmental Sources of Pediatric Asthma

Identifying the sources that trigger pediatric asthma is critical for successful therapeutic interventions. The University scientists collaborated with the families to develop a biomedical informatics platform to crowdsource and link air quality data with personal health monitoring data and other data resources to pinpoint environmental causes of patient symptoms. Continue reading → Pinpointing Environmental Sources of Pediatric Asthma

Commensal Microbes That Help Prevent Metabolic Disease

Our intestines are colonized by a vast consortium of bacteria, viruses, and fungi that we now know have essential influences on gut health. Research in the Round lab has recently shown that intestinal antibody responses select for specific organisms within the gut that prevent metabolic disease by limiting fat absorption within the intestine. Continue reading → Commensal Microbes That Help Prevent Metabolic Disease

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

Structure and Function of the Polycystic Kidney Disease Channel

The kidney senses and responds to physiological changes, such as pH, ionic strength, pressure, and nutrient levels. Sensing is mediated by a coupled sensor/ion channel complex called the Polycystic Kidney Disease Channel, which is composed of two subunits, the PKD1 (the primary sensor) and PKD2 (the channel). Continue reading → Structure and Function of the Polycystic Kidney Disease Channel

Identifying RNAs from Invading Viruses

Biochemical and structural studies from Bass, Shen, Iwasa, and colleagues revealed how Dicer-2, an RNA processing, and antiviral defense enzyme, distinguishes and differentially processes double-stranded RNA (dsRNA) substrates by sensing the unique chemistry at their termini. Continue reading → Identifying RNAs from Invading Viruses