Most Recent Posts

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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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Bringing Medicine into the Age of Genomics

The child had a puzzling collection of symptoms - he was lethargic, frequently broke out in rashes, and had trouble keeping food down - and they didn’t neatly fit into the description of any one...Read More

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Nanthealth and University of Utah Establishes Heritage 1K Project To Discover Genetic Causes of 25 Rare And Common Diseases

CULVER CITY, Calif. –NantHealth, Inc.,(Nasdaq: NH), a leading next-generation, evidence-based, personalized healthcare company, today announced that it has partnered with the Univ...Read More

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Genetic Autopsy Could Determine Cause of Death

The unexpected death of a child is tragic under any circumstance, but it becomes even more so when the reason behind it is unknown. When a traditional autopsy comes up empty, an interdisciplinary team...Read More

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DNA Fest Highlights Utah Genetics, Precision Medicine

On July 9, the Natural History Museum of Utah will host a DNA Fest presented in part by Utah Genome Project and USTAR Center for Genetic Discovery investigators. With hands-on activities, families are...Read More

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Metagenomics Tool Could Change How Infectious Diseases are Diagnosed

Infectious disease still remains a significant problem in medicine. For instance, the vast majority of upper respiratory infections - which can led to difficulty breathing, fever and hospitalizations ...Read More

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Tackling the Ethical, Legal and Social Impacts of Genomic Information

With $4 million in funding from the National Human Genome Research Institute, the University of Utah Center of Excellence in ELSI (Ethical, Legal, & Social Implications) Research (UCEER) will explore ...Read More

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New Treatment Could Prevent Leading Cause of Death in Hereditary Colon Cancer Survivors

Those born with the inherited genetic condition, familial adenomatous polyposis (FAP), have a nearly 100 percent lifetime risk for colon cancer. Let that sink in for a moment - they WILL get cancer if...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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Huntsman Cancer Institute CEO to Help Guide National Cancer Moonshot Initiative

Huntsman Cancer Institute’s CEO and director, Mary Beckerle, PhD, will join Vice-President Joe Biden’s Moonshot Program Initiative as an invited member of a new Blue Ribbon Panel, tasked w...Read More

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Genetic Information from Six Families Defines an Immune Disorder

At age 56, Roma Jean Ockler, from Highland, Utah, was continually afflicted with sinus infections and pneumonia, and despite treatments, only seemed to be getting worse. For decades, immunologist Harr...Read More

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Vice President Biden Calls Utah Genetics Resource a "National Model"

On Friday, Vice President Joe Biden visited the Huntsman Cancer Institute at the University of Utah (HCI) to consult with experts on the national "moonshot" initiative to eradicate cancer. The visit h...Read More

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Genetic Science Powered by Family

Representing over 7.3 million people connected to 23 million records, including vital statistics and medical records, the Utah Population Database is a powerful resource for advancing precision medici...Read More

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Continuing a Legacy of Genetic Discovery

For the past 65 years, Utah families have served as a wellspring for genetic discovery, fueling new diagnostics and treatments that are empowering us to outlive our family history....Read More

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Utah-led Precision Medicine Project Highlighted at White House

(Washington D.C.) - On the eve of a visit by Vice President Joe Biden to the Huntsman Cancer Institute at the University of Utah to discuss the national "moonshot" initiative with cancer experts, Univ...Read More

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Rare Disease Day Symposium Features Utah Geneticists

A rare disease is defined as one that affects fewer than 1:200,000 people, but as a group these diseases impact 10 percent of the U.S. population. What's more, 95 percent of them are untreatable. One ...Read More

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National Panel Says "Yes" to Gene Therapy Procedure, but With Restrictions

Each week breaking news announce discoveries in research and technology, fueling new hope for patients with difficult diseases. But just because something is possible, should it be done? That question...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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The Value of Precision Medicine

Vivian Lee, Ph.D., M.D., M.B.A., CEO of University of Utah Health Care and vice president of University of Utah Health Sciences explains why creating a genetic and medical database is of national inte...Read More

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Unraveling the Genetics of Autism

A request to describe a typical child with Autism Spectrum Disorder (ASD) is like asking for the impossible. While one may have trouble socializing but excels in school, another's most noticible chara...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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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 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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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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Heritage 1K Project to Sequence 1,000 Utahns

The University of Utah launched the Heritage 1K Project to carry out whole genome sequencing of 1,000 people in Utah who have a history of certain diseases and conditions in their respective families....Read More

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UGP Announces Partnership with Regeneron Genetics Center

The Utah Genome Project and the Regeneron Genetics Center (RGC), a wholly-owned subsidiary of Regeneron Pharmaceuticals, Inc., based in New York, are collaborating to perform large-scale sequencing of...Read More

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Senator Hatch Backs Utah's Precision Medicine Push

In anticipation of upcoming budget negotiations in Congress, the Utah Genome Project showcased to Senator Orrin Hatch, R-Utah, genetics research advances that are synergizing with the national Precisi...Read More

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Genetics May Explain Why Children Born With Heart Defects Have Trouble in School

SALT LAKE CITY -30 years ago, being born with a severe heart defect was practically a death sentence. But as advances in medicine have given rise to generations of survivors, it’s emerging that ...Read More

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Gene.iobio App for Real-Time, Interactive Analysis of Genetic Variants

Gene.iobio is the latest in a suite of intuitive and interactive genome analysis tools developed by the team of Gabor Marth, D.Sc., professor of human genetics and co-director of the USTAR Center for ...Read More

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Mark Yandell, PhD: Code Breaker

Mark Yandell, Ph.D., professor of human genetics and co-director of the USTAR Center for Genetic Discovery, uses computer logic and algorithms to search the 3 billion bases of our genetic code for dis...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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Genetic Testing in Kids?

A woman coping with the burden of familial breast cancer can’t help but wonder if her young daughter will suffer the same fate. Has she inherited the same disease-causing mutation? Is it best to...Read More

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Genomics England Selects Omicia and University of Utah Technology for 100,000 Genomes Project

Genomics England announced that it will be using technology co-developed in a partnership between the University of Utah and Omicia, and exclusively commercialized through Omicia, to interpret the DNA...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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Utah Parkinson Disease Registry To Provide Insights Into Disease's Causes

The Utah Parkinson Disease Registry (UPDR.org) was launched last week in an effort to understand an apparent rise in PD by 30 percent over the last ten years in Utah, and to uncover causes of the dise...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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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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Don't Stop Debating the Merits of Government Funded Science

Dean Li, M.D., Ph.D., associate VP for research at University of Utah Health Sciences wrote an op-ed for the Deseret News making the case to back government funded science. Prominent Republicans are c...Read More

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University of Utah's Role in Angelina Jolie's Decision to Remove Her Ovaries

This morning in a New York Times op-ed piece, Angelina Jolie shared her experience undergoing a laparoscopic bilateral salpingo-oophorectomy due to her high genetic risk for ovarian cancer. Mutat...Read More

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Should We Be Able to Genetically Modify Humans?

Genetically modified plants and livestock are already a controversial reality. But what about genetically modifying humans? The technology could potentially eradicate certain diseases that run in fami...Read More

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History of Genetics in Utah

For the past 65 years, Utah families have served as a wellspring for genetic discovery...Read More

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Precision Medicine: A Moon Worth Shooting For

Mary Beckerle, Ph.D., CEO of the Huntsman Cancer Institute makes the case for Obama's precision medicine initiative in an op-ed pubished in the Salt Lake Tribune. "We choose to go to the moon in ...Read More

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New Insights Into Causes of ALS

In the wake of the ALS ice bucket challenge, scientists have made important progress on discovering causes of ALS, amyotrophic lateral sclerosis also known as Lou Gehrig’s disease. Patients with...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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The Need For Speed

The USTAR Center for Genetic Discovery is expanding the UGP genome analysis pipeline to meet oncoming demands. It's expected that one million people will want their genome sequenced by 2016 to hasten ...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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DNA Sequencing Goes Mobile

Nature Methods features MinION, a palm-sized open-source nanopore platform that has been developed into a portable DNA sequencing machine that fits into the palms of your hand. The newest faculty in t...Read More

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Searching Family Trees for the Seeds 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. Nicola Camp, Ph.D., a professor of genetic ep...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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Grappling With Next-Generation Ethics

Pioneering discoveries in the world of genomics brings with it the challenge of solving problems we never could have imagined. In the process of discovering a genetic cause for atrial fibrillation (AF...Read More

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Former Amgen SVP Brings Industry Savvy to Personalized Health

Willard H. Dere, M.D., brings 25 years of experience in the biopharmaceutical industry to his role as executive director of the Program in Personalized Health at the University of Utah, which began No...Read More

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Powered by UGP Software, Omicia is Finalist for 100,000 Genomes Project

California-based Omicia, Inc. has been selected by Genomics England as a top ten finalist for the 100,000 Genomes Project. Omicia's software platform, Opal, provides user-friendly researcher and clini...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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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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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 who...Read More

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Rethink What's Possible

The Huntsman Cancer Institute launches a campaign to stop cancers before they start, an ambitious goal made possible through the Utah Genome Project. Watch the video to learn more....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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Top Computational Biologists Hack Disease Discovery Tool

A child is born in a hospital and has a life-threatening illness that appears to be genetic in nature, but none of the attending physicians can figure out what it is. With a software tool called the V...Read More

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pVAAST Finds Disease-Causing Variants that Run in Families

Scientists at the USTAR Center for Genetic Discovery at the Unviersity of Utah, the University of Texas MD Anderson Cancer Center in Houston, and colleagues, have developed a powerful tool called pVAA...Read More

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Software Identifies Disease-Causing Gene Mutations in Three Children

How can a patient hope to receive appropriate treatment if no one knows what’s wrong? Utah Genome Project investigator Mark Yandell, Ph.D., has developed a software tool, called Phevor, that ide...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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USTAR Launches Center for Genetic Discovery

The USTAR Center for Genetic Discovery is partnering with California based Omicia, Inc, to make patient genome analysis as routine as a blood test. The center, co-directed by Utah Genome Project Inves...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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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

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National Poll Shows Public Divided on Genetic Testing to Predict Risk

Genetic testing to predict the likelihood of developing a hereditary cancer can help save millions of lives each year. This year’s survey shows significant work is still needed to educate the pu...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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Utah Genome Project Science Working to Bring Genomic Analysis to Point of Care

After only a year, the Utah Genome Project is already advancing science and health care delivery outside its own institutional walls. A private California company recently announced a partnership with...Read More

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UGP investigators discover a new genetic cause for a hard-to-diagnose immunodeficiency disease

In November 2013, Utah Genome Project (UGP) investigators published their discovery of a new genetic cause for common variable immune disease—CVID for short—one of the more common types of...Read More

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Discovery at UUHS

Over a decade ago, scientists at the University of Utah capitalized on a long and rich history of genetic discovery. Some of the most renowned geneticists at the University created genetic technology ...Read More

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Creating the World Standard in Genomic Electronic Health Records (GEHR)

Today, technology has increased the pace of genetic discovery immensely and scientists at the University of Utah Health Sciences [UUHS] are utilizing and developing some of the most cutting-edge tools...Read More

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A Vision for Your Future Genetic Health

Perhaps your grandfather died from heart disease at age 60 and your father at 65. You and your siblings may be at risk for that same condition. Genetically, you may have even passed these same risks o...Read More