Genome Rounds

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Computers are Helping Find the Causes of Mysterious Diseases

Some diseases are so rare and unusual that doctors have never seen anything like it. An excruciating journey for both families and doctors, figuring out what’s wrong can take years, if an answer...Read More

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A Conversation With NHGRI Director Eric Green

Genome sequencing - reading our complete set of DNA instructions - is a powerful tool for understanding and diagnosing disease, and has become integral to precision medicine, a movement to bring the r...Read More

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Genetic Testing: What's the Harm?

Advances in genomics are creating extraordinary opportunities in medicine, but what are the potential consequences of its use to society and the individual? Utah Genome Project investigator Joshua Shi...Read More

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Changing the Course of Family History

When scientists uncovered a genetic defect that was causing colon cancer in a large family, they were faced with the decision of what to do next. The researchers and family have since developed a clos...Read More

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What Cancer Resistance in Elephants Can Teach Us About Childhood Cancer

Cancer is the leading cause of disease-related death in children, and 10 to 30 percent of such cases are related to a genetic risk a cruel fate that can make families feel helpless, says Huntsman Canc...Read More

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Making Sure Informed Consent is Truly Informed

The following is a report from The Ethics of Precision Medicine: Consent panel at the Frontiers in Precision Medicine symposium held at the University of Utah on Dec. 3-14, 2015 Guinea pigs no more. T...Read More

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In 25 Years, From 1 Genome to 1,000

This month, two publications appear in a special issue of the journal Nature celebrating 25 years since the launch of the Human Genome Project and marking the completion of The 1000 Genomes Project, l...Read More

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Making the Most of Big Data

Utah Genome Project and USTAR Center for Genetic Discovery investigator Aaron Quinlan and his team have released GQT, a software tool for exploring and querying large data sets of thousands to million...Read More

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Poor Survival in Multiple Myeloma Patients Linked to Genetic Variation

SALT LAKE CITY- Researchers with the Huntsman Cancer Institute at the University of Utah and collaborators from 17 other institutions have found that multiple myeloma patients with a genetic variation...Read More

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White House Precision Medicine Initiative Recognizes Utah Contributions

The White House Precision Medicine Initiative aims to do no less than completely revolutionize health care by shifting disease prevention and treatment from a “one-size-fits-all” approach ...Read More

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Mutations in RAG1 Gene Linked to Even More Immunodeficiency Diseases

In a multi-institution study published in the Journal Clinical of Immunology, University of Utah researchers and colleagues have extended the spectrum of diseases caused by mutations in the RAG1 gene ...Read More

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Family Health Histories: We Know They're Valuable, So Why Don't we Collect Them?

Americans overwhelmingly believe that collecting family health histories is important, but only about 37 percent actively compile such information, according to a 2014 survey co-authored by Joshua Sch...Read More

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Is The Precision Medicine Initiative A Good Investment?

Is the President’s Precision Medicine Initiative going revolutionize health care? Is it a good investment? What is it, exactly? Dr. Will Dere, director for the Program for Personalized Health at...Read More

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Knowing Medical Histories of Uncles, Great-Grandfathers Helps Determine Prostate Cancer Risk

A study led by Utah Genome Project investigator Lisa Cannon-Albright, PhD, shows that looking at whether a man’s uncles and great-grandparents, among other second- and third-degree relative...Read More

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Bam.iobio: An Interactive, Real-Time, Sequence Alignment Inspector App

Bam.iobio is the first app of its kind that allows scientists to analyze genome sequence data on their web browser, interactively, and in real-time, without having to rely on terabytes of storage and ...Read More

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Should Every Woman Undergo Genetic Testing for Breast Cancer?

Women who inherit certain mutations in the genes BRCA1 and BRCA2 are at high risk for developing breast or ovarian cancer at a young age. So why don’t all women undergo genetic testing to see if...Read More

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Pituitary Tumors Signal Risks for Other Cancers in Extended Families

People who develop tumors in their pituitary gland have a significantly higher risk for other, unrelated types of cancer—and so do their relatives, a new study using records from the Utah Popula...Read More

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Toward Preventing Spontaneous Preterm Birth

Preterm infants, born at less than 37 weeks gestation, account for more than 70% of neonatal deaths in the United States. Survivors are at an increased risk for serious complications, including cerebr...Read More

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Unraveling the Genetics of ALS

Amyotrophic lateral sclerosis (ALS), often referred to as Lou Gehrig's Disease, is a neuroegenerative disease leading to loss of voluntary muscle control and paralysis. Most patients die within two to...Read More

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Why Hasn't DNA Sequencing Become a Routine Part of Health Care?

It has become faster and cheaper than ever to sequence the human genome. So, why doesn't everyone know their genetic code and what it might tell them about their health? "In the research domain we can...Read More

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Using Computer Logic to Diagnose Disease

For the past 25 years, computational biologist Mark Yandell, Ph.D., has been intrigued by DNA, and the code embedded within it. “What fascinates me is the idea that we can compute on a DNA sequ...Read More

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Utah Genealogies May Reveal Genetic Causes of Cancer

Our genetic code is made up of 3.3 billion base pairs of DNA, and one single base pair change can be enough to put someone at risk for developing disease. Dr. Nicki Camp, a professor of genetic epidem...Read More

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Following The Family Tree To Understand Cancer

Dr. Lisa Cannon-Albright helped discover the hereditary breast cancer genes BRCA1 and BRCA2 as well as a gene that predisposes people to Melanoma. Listen to her explain how Utah’s rich genealogi...Read More

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Genetic Testing For Cancer

If you have a family history of cancer, you may have considered genetic testing to see if you actually have the mutation that causes the disease. It’s a very useful tool, but there are many othe...Read More