Searching the human genome for the genetic causes of disease, as scientists have been, is like looking for one misspelled word in all the books at the Library of Congress.

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The Utah Genome Project is a large-scale, genome sequencing and analysis initiative to discover new disease-causing genes and to develop genetic diagnostics and precision therapies that will transform healthcare.

The Utah Genome Project is unique among genome initiatives because instead of studying unrelated individuals, the Utah Genome Project uncovers genetic signatures of disease and drug response in large families.

The project leverages the Utah Population Database, the world’s largest repository of genealogies, public health and medical records, housed at the University of Utah Health Sciences and Huntsman Cancer Institute.

In part, because a single human genome looks like this

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Every human genome contains 3 Billion base pairs of DNA.

There are 7 Billion people on the planet.

That's 21,000,000,000,000,000,000 sets of human instructions to understand.

Try to find a needle in that genomic haystack.


But what we've found, is when we are able to compare the genetic sequences of a family...

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Today, scientists are racing to discover the genes that cause diseases like cancer, heart disease, diabetes and more. Tomorrow your doctor will be able to examine your Genomic Electronic Health Record (GEHR) to determine:

  • Conditions for which you and your family are at risk
  • How you and your family can minimize the chances of getting a disease
  • Personalized drugs that work the best to fight your disease

We can begin to see things more clearly.

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Scientists at University of Utah Health Sciences have already globally revolutionized personalized and population medicine by discovering genes responsible for 30+ diseases including:

  • BRCA1 and BRCA2 - Preventing breast cancer worldwide
  • APC - Preventing colon cancer and developing personalized drugs to treat cancer
  • HERG - Tested in every FDA drug approval in the U.S.A, Europe and China.
  • AND 30 OTHER GENES - Responsible for Melanoma, Atrial Fibrillation, Hypertension, Macular Degeneration and Neurofibromatosis to name a few.

And then we can use what we learned from that one Utah family, to develop tools, medications, and treatments to help people across the globe.

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UUHS is uniquely positioned to lead the way because scientists here:

  • Created some of the world standards in biomedical informatics platforms
  • Discovered more than 30 genes responsible for multiple diseases
  • Utilize state-of-the-art sequencing facilities
  • Support a culture of a fully integrated and collaborative academic, clinical and research institution
  • Have access to multiple generations of families

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