News

 image

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. The project will focus on discovering the genetic causes of 25 conditions, including Parkinson’s Disease, Crohn’s Disease, Psoriasis, Idiopathic Pulmonary Fibrosis, Diabetes, Chronic Lymphocytic Leukemia and other hereditary conditions....Read More

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

 image

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 families with diseases that have an autoimmune component, including lung diseases, psoriasis, and inflammatory bowel disease. RGC will work closely with the USTAR Center for Genetic Discovery to analyze genomic data for genetic variations that cause disease. ...Read More

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

 image

Senator Hatch Backs Utah's Precision Medicine Push

New Utah-based public-private partnerships are advancing the nation's precision medicine efforts....Read More

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

 image

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

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 over half have behavioral problems and difficulty keeping up academically. Two groups from the University of Utah School of Medicine were awarded $6.4 million from the National Institutes of Health’s Bench to Bassinet initiative to identify causes of these disabilities, and ways to intervene....Read More

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

gene iobio image

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

Computational biologist Mark Yandell, Ph.D., professor of human genetics, and co-director of the USTAR Center for Genetic Discovery explains his research designing algorithms to discover disease causing genes, and what inspires him....Read More

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

 image

Genetic Testing in Kids?

Despite an increasing ease in acquiring genetic information, the American Society of Human Genetics (ASHG) points out that doing so has consequences, particularly when it comes to children. It is this population, they say, that is the most vulnerable. With this precaution in mind, the ASHG Workgroup on Pediatric Genetic and Genomic Testing has issued guidelines for genetic testing in children and adolescents that are based on a thorough review of studies on ethical, legal, and social implications (ELSI). The recommendations were published in The American Journal of Human Genetics. ...Read More

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

 image

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

Genomics England announced that it will be using technology from the University of Utah to interpret the DNA codes of Britons as part of the 100,000 Genomes Project, a national effort to hasten creation of diagnostics and treatments that are tailored to a person’s genetic make-up. The U of U’s VAAST (Variant Annotation, Analysis and Search Tool) and Phevor (Phenotype Driven Variant Ontological Re-ranking tool) algorithms are at the core of the Opal platform, developed by California-based Omicia, which transforms genomic data into clinically relevant information....Read More

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

 image

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 disease. Effective March 12, 2015, the Utah State Board of Health requires that health care providers report cases of PD and related movement disorders. Because Utah has one of the highest rates of PD in the nation, it is uniquely poised to contribute toward a new understanding of the disease....Read More

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

 image

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....Read More

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

Angelina Jolie image

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

The University of Utah has a unique history related to the BRCA1 and BRCA2 genes. In the early 1990’s, researchers at the University helped to identify the genes after studying numerous Utah families with high incidences of breast and ovarian cancer. This work would later become the Utah Genome Project (UGP)....Read More

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

 image

Should We Be Able to Genetically Modify Humans?

A group of 18 leaders in the field of genomic engineering have written a perspective to be published in the journal Science Express on March 19, cautioning fellow scientists from going down this path too quickly. They call for a moratorium on genetically engineering changes in human DNA that would be passed to future generations. Before this can happen, they say, scientists, clinicians, and the general public must agree on the best ways to ensure the safety and efficacy of the technology....Read More

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

 image

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....Read More

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

 image

New Insights Into Causes of ALS

University of Utah neurologists Dr. Stefan Pulst and Dr. Summer Gibson are authors on a collaborative, multi-institutional study published in the journal Science. The research identifies mutations in a gene, TBK1, as contributing to ALS. Taken together with previous research, the discovery highlights defects in specific biological pathways – autophagy and inflammation - as key players in development of the disease in some patients....Read More

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

 image

DNA Sequencing Goes Mobile

Nature Methods features MinION, an open source nanopore platform that has been developed into a DNA sequencing machine that fits in the palm of your hand. ...Read More

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

 image

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 Nov. 1. He is leading a team of researchers in transforming genetic discoveries into customized diagnostics, therapeutics, and tools for screening and prevention....Read More

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

 image

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 genome interpretation software is powered by VAAST and Phevor algorithms, built by Utah Genome Project investigators....Read More

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

 image

Nature Spotlights Utah Genome Project Disease Discovery Tools

Yandell is co-developer of a suite of software programs, VAAST, pVAAST and Phevor, that power the Utah Genome Project. This groundbreaking work was recently featured in an article in Nature. ...Read More

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

 image

Top Computational Biologists Hack Disease Discovery Tool

The USTAR Center for Genetic Discovery hosted a week long hackathon to exploit the weaknesses of the disease discovery tool VAAST, and to make it stronger. ...Read More

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

 image

pVAAST Finds Disease-Causing Variants that Run in Families

Scientists at the USTAR Center for Genetic Discovery at the University of Utah, the University of Texas MD Anderson Cancer Center in Houston and colleagues have developed a powerful tool called pVAAST that helps researchers and clinicians identify disease-causing mutations in families faster and more precisely than ever before....Read More

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

 image

Software Identifies Disease-Causing Gene Mutations in Three Children

A computational tool, called Phevor, developed by co-director of the USTAR Center for Genetic Discovery and Utah Genome Project investigator, Mark Yandell, Ph.D., has successfully identified diseases with unknown gene mutations in three separate cases. The study was reported in The American Journal of Human Genetics....Read More

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

 image

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 investigators Mark Yandell, Ph.D., and Gabor Marth, D.Sc., was launched with $6 million from the University of Utah and the state-funded Utah Science Technology and Research (USTAR) initiative....Read More

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

 image

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

 image

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

 image

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