Alzheimer’s disease (AD) is a complex neurodegenerative disorder characterized by gradual onset and progression of memory loss combined with deficits in executive functioning, language, visuo-spatial abilities, personality, behavior and self-care.Citing the rapid growth of the oldest age groups in the U.S. population, recent studies predict a rapid increase in the prevalence of AD unless more effective treatments can be developed. Individuals with AD live from eight to more than 20 or years after the onset of symptoms, making this disease both emotionally and financially devastating. The national direct and indirect costs of caring for individuals with AD are in excess of 100 billion dollars. In order to diagnose AD earlier and treat it more efficiently, we must identify both the genetic and environmental factors, which modulate risk for disease. We have funded projects that focus on genetics, proteomics, and small molecule drug development to solve AD. NIH R01 (PI, Dr. Kauwe)The major goal of this project is to use genome-wide marker data to detect loci that simultaneously affect cerebospinal fluid amyloid beta and tau levels (pleiotropy), loci which modify the relationships between Alzheimer’s disease biomarkers (cerebrospinal fluid amyloid beta and tau) and Alzheimer’s disease (referred to as rQTL), and gene-by-gene interactions.
NIH R01 (PI, Dr. Kauwe)The major goal of this project is to identify measurable risk and resilience factors for Alzheimer's disease, which will lead to better strategies for treatment and prevention of this devastating disease.
The purpose of this project is to develop a high-quality reference genome for the bonefish (Albula glossodonta and A. vulpes). This species of fish has had a massive commercial and environmental impact in tropical waters, but conservation efforts are limited by a lack of good understanding of the species’ genetic diversity. We are collecting bonefish tissue samples and sequence their DNA to build a reliable reference genome that will advance research and understanding of this important species.
Rheumatic Relief began in 2009 and has flourished to become a viable clinical, educational, and research program with the potential of saving the lives of hundreds of children as well as influencing clinical protocol for rheumatic heart disease (RHD). To date we have served the children of Samoa.
The pathogenesis of RHD is complex and both environmental and genetic elements are contributing factors. While environmental aspects clearly contribute to elevated rates of RHD, the RR genetics team has collected data that suggests a genetic contribution to RHD risk. The Rheumatic Relief team anticipates that exome sequencing efforts will lead to the identification of genetic variants in the pedigree of identified at-risk populations that alter risk for RHD and will provide knowledge necessary for development of effective vaccines.
Existing scientific literature provides evidence that there is an inheritable component to whether a strep infection turns into rheumatic heart disease when untreated. Finding this genetic link will ultimately help us move toward a lasting solution to the problem. This is accomplished by analyzing the DNA of family blood relations where there are two or more members who have been screened positive for rheumatic heart disease. The DNA is then tested for genetic variations that are shared by those affected with the disease. Another ongoing approach is to compare the DNA of all RHD cases against DNA from subjects without RHD. Both approaches have the potential to identify specific changes in the DNA that impact RHD susceptibility. These findings will provide us with fundamental new knowledge about rheumatic heart disease and will potentially influence preventative protocols.
CORYTOPHANID LIZARD RESEARCH
The purpose of this project is to identify genetic factors that drive the evolution of oviparity and viviparity in Corytophanid lizards. Samples have already been collected and sequenced. We are currently constructing de novo genome and transcriptome assemblies of Corytophanes species in preparation for analysis.
TROUT CONSERVATION GENETICS RESEARCH
Dr. Kauwe is involved in work funded by the State of Utah to preserve native strains of cutthroat trout in Utah and throughout the Western USA.