The University of Utah has a long history of gene discovery. Our researchers have contributed to efforts to identify
nearly 40 disease-causing genetic variations. Not surprisingly, these discoveries have been life changing for the
families that are affected by these devastating diseases. For many, just knowing the cause of their illnesses is a
huge relief. But the benefits extend far beyond that.
When doctors understand the genetic cause of a disease, they gain insight into which existing approaches might work
to treat or prevent it. For example, patients with Long QT syndrome are at risk for sudden cardiac arrest. But if
they know they carry the genetic variation that puts them at risk, they can take medication or have a device implanted
to help control their heart rhythm.
Having the gene in hand also gives researchers something to work with for developing new drugs or other treatments.
Rare cases can have broad impacts
The number of people with rare inherited forms of any particular disease, such as Long QT syndrome, is small. Yet
information gained from understanding the genetic causes of these diseases can reach far beyond the small number of
"You can learn way more about what a gene does from a rare disease patient than from thousands of healthy patients."
Matt Might, PhD, Associate Professor of Computing, University of Utah, and parent of a child with a rare genetic disease
In addition to having a genetic cause, Long QT can also be caused by certain prescription drugs. Once researchers
discovered the cause of inherited Long QT syndrome, they quickly deduced that the drug-induced form is based on
interactions with the very same molecule: a protein called hERG (also called KCNH2). In inherited Long QT, a defective
hERG protein can cause the heart to beat erratically. In drug-induced Long QT, drug molecules stick to the hERG
protein and block its normal function. Today, thanks to this knowledge, any new drug must pass a hERG test before
it can be given to patients.
The more researchers learn about each genetic contributor to any disease, the better they understand that disease in
general. Each new discovery is like a piece added to the puzzle, and together they make a clearer picture of how the
body works, and how to get it back on track when things go wrong.
Learn more about the University of Utah's efforts to help people with rare and undiagnosed diseases.
Discovering a gene that influences disease risk is just a first step. It takes additional work to turn that discovery
into a practice that can help patients. That's where ARUP Laboratories comes in.
ARUP is a non-profit medical laboratory and an enterprise of the University of Utah. With a staff of 3,000, it runs more
than 3,000 types of tests on 10 million biological samples from across the country each year. Many of its tests rely
on the tools at the leading edge of precision medicine, including screens for hereditary cancers, molecular profiling
panels for tumors, and even whole-genome next-generation sequencing.
High quality diagnostic tests are key to bringing precision medicine to patients. In order to give the right treatments
to the right patients, doctors need tests that are reliable, accurate, and fast. Until a proper diagnostic test can be
developed, a new genetic discovery has no power to touch patients.
Because ARUP has close ties to both research and patients, and thanks to the University of Utah's culture of
collaboration, they can translate new discoveries into diagnostic tests very quickly—in some cases, in less than one
year. Since 1996, ARUP's Institute for Clinical & Experimental Pathology has developed or significantly improved more
than 600 tests, including tests for more than 40 types of hereditary cancer and a 50-gene panel for predicting breast
Sanguinetti, M.C., Jiang, C., Curran, M.E., & Keating, M.T. (1995). A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81, 2, 299-307. doi: 10.1016/0092-8674(95)90340-2
Sanguinetti, M.C. & Tristani-Firouzi, M. (2006). hERG potassium channels and cardiac arrhythmia. Nature 440, 463-469. doi: 10.1038/nature04710
Genetic Science Learning Center. (2016, February 1) From Discovery to Diagnostics.
Retrieved March 21, 2017, from http://learn.genetics.utah.edu/content/precision/diagnostics/
From Discovery to Diagnostics [Internet]. Salt Lake City (UT): Genetic Science Learning Center; 2016
[cited 2017 Mar 21] Available from http://learn.genetics.utah.edu/content/precision/diagnostics/
Genetic Science Learning Center. "From Discovery to Diagnostics." Learn.Genetics.February 1, 2016. Accessed March 21, 2017. http://learn.genetics.utah.edu/content/precision/diagnostics/.