From Discovery to Diagnostics

Genetic discoveries change lives

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.

Matthew Might, PhD, White House Strategist, likens his son’s battle with an undiagnosed genetic disorder to “fighting a professional boxer blindfolded.”

Inherited Disorder Table

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 affected families.

"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.

Matthew Might, PhD, explains why research on rare genetic disorders helps researchers zero in on possible treatments for common diseases, like cancer and diabetes.

Learn more about the University of Utah's efforts to help people with rare and undiagnosed diseases.

Algorithms for Innovation — Keeping pace: Who's driving discovery and where are we headed

University of Utah Health Care News — White House highlights University of Utah-led project to help patients with rare, untreatable diseases at Precision Medicine Summit

Nature article — When Disease Strikes from Nowhere

ARUP: Putting Discovery into Practice

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 cancer outcomes.

ARUP Laboratories uses genetic discoveries to develop new tests for patients.



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