Nature Spotlights Utah Genome Project Disease Discovery Tools

Every clinical geneticist has encountered a patient, often a child, with a constellation of symptoms that confound the most seasoned of specialists. Genetic sequencing carries promise for families whose diagnostic odysseys have cost them valuable time and financial resources ultimately to lead them to the limits of our knowledge.

The complexities of analysis, sorting through the 3 billion base pairs of DNA found in every human genome, can’t be overstated. Computational geneticists are creating software tools to speed the process and bring meddlesome mutations into sharp relief. USTAR Center for Genetic Discovery co-director Mark Yandell, Ph.D., is co-developer of a suite of software programs––VAAST, pVAAST and Phevor— that power the Utah Genome Project. Combined use of his tools recently helped clinicians diagnose a 12-year-old boy with life threatening intestinal inflammation. They discovered a de-novo (acquired) mutation, enabling the boy’s doctors to treat and manage his condition.

This groundbreaking work was recently featured in an article in Nature entitled, When Disease Strikes From Nowhere. As the article explains, next generation sequencing has been remarkably successful at identifying the cause of rare, inherited diseases. Scientists have just scratched the surface with spontaneous, de novo mutations. We are only beginning to understand the interplay of the genetic and environmental insults behind complex disorders such as, Alzheimer’s, autism and asthma.

Paired with the power of the Utah Population Database, the world’s largest repository of genealogical, medical records and public health records, software tools like Yandell’s are able to more easily spot genetic mutations as they transmit disease across generations. Leveraging these resources and a history of genetic discovery the University of Utah, we are edging closer to realizing the promise of personalized medicine.

The Promise of Personalized Medicine