A research scientist in Marshfield Clinic Research Foundation's Center for Human Genetics will use a $400,000 federal grant to study the heritability of thousands of diseases.
Scott Hebbring, Ph.D., recently received a National Institutes of Health (NIH) grant for a study titled "Development and Application of Phenome-wide Scan of Heritability (PheSH). Phenotypes are a person's observable traits.
Understanding the genetic cause of diseases is paramount to the application of genetics in personalized medicine. All diseases are caused by a combination of environmental and genetic factors. Diseases that have a strong genetic component are called heritable diseases.
"In the big picture, we look at thousands of diseases and measure heritability signals that were unappreciated or unrealized in the past," Hebbring said. "Once we identify heritable diseases, we can develop follow-up genetic studies to identify the genes that are causing the disease in the patients."
Conducting genetic and genomic studies is difficult without evidence of a strong genetic component by heritability measurements. Heritability can be measured in twins or other family structures, but is challenged by the limited availability of families with appropriate clinical data.
Even when these families are identified, heritability measurements are typically restricted to a single disease.
Hebbring's proposed research addresses these challenges by applying statistical methods to calculate heritability for thousands of diseases simultaneously using data from the Clinic's electronic medical record and the Personalized Medicine Research Project. The proposed project will test the hypothesis that many clinical diseases, defined by de-identified patient medical records in families, can be used to measure heritability to direct further genetic studies. Hebbring is calling this novel method "Phenome-wide Scan of Heritability" (PheSH).
The PheSH concept resulted from Hebbring's previous work on Phenome-Wide Association Studies (PheWAS) he conducted during his National Library of Medicine-supported mentored training. Both PheWAS and PheSH are phenotype-independent approaches that allow for the genetic study of many clinical diseases simultaneously.
Hebbring's research is supported by the NIH under award number 1 K22 LM011938-01. The content is solely the responsibility of the author's and doesn't necessarily represent the official views of the NIH.
The Marshfield Clinic system provides patient care, research and education in more than 50 locations in northern, central and western Wisconsin, making it one of the largest comprehensive medical systems in the United States.