Mark Yandell UCGD Principal Investigator

Congratulations to Mark Yandell on his One-U RAI Faculty Fellowship Award!!

November 21, 2024

One-U RAI Announces Inaugural Awardees: Seven Faculty Fellows and One Distinguished Visitor. Read More

Human Genetics Retreat 2024

October 22, 2024

This year’s Human Genetics Retreat took place on October 18-19, 2024 at Snowpine Lodge up Big Cottonwood Canyon. Thank you for your time during our Alta retreat, we are grateful for your engagement and for sharing your science and creative ideas to make our community even better.

Aaron Quinlan UCGD Principal Investigator

Aaron Quinlan, PhD, Appointed Chair of the Department of Human Genetics

August 14, 2024

Aaron Quinlan, PhD, has been appointed Chair of the Department of Human Genetics in the Spencer Fox Eccles School of Medicine at University of Utah Health, effective August 19, 2024. READ MORE

ISABEL SERRANO WILL BE STARTING AS A POSTDOC IN QUINLAN’S LAB IN OCTOBER 2024!!!

June 24, 2024

Isabel Serrano is a PhD Candidate in Computational Biology at the University of California, Berkeley will be joining the Quinlan Lab in October 2024!!

Harriet Dashnow is starting her lab at CU Anschutz on July 1, 2024!!

June 24, 2024

Harriet Dashnow starts a faculty job as an Assistant Professor in the Department of Biomedical Informatics at the University of Colorado Anschutz Medical Camps on July 1st, 2024!! Read more.

Congratulations to Dr. Marth and Dr. Underhill-recipients of SMaHT Award!!

May 12, 2023

NIH launches $140 million effort to investigate genetic variation in normal human cells and tissues. The National Institutes of Health is launching a new program, the Common Fund’s Somatic Mosaicism Across Human Tissues (SMaHT) Network, that aims to transform our knowledge of how much genetic variation there is in the cells and tissues throughout our bodies. Somatic mosaicism is a type of genetic variation that arises when our somatic (non-reproductive) cells are genetically different from each other. This somatic genetic variation occurs when some of our cells accumulate DNA changes over time. Read more.

Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award

March 15, 2023

Isabelle B. Cooperstein, BS is the Recipient of the 2023 ACMG Foundation/David L. Rimoin Inspiring Excellence Award. BETHESDA, MD – March 15, 2023 | The...

Random Allelic Expression of Genes Could Complicate Disease, Diagnosis

February 13, 2023

A study published in Cell Reports involved analysis of more than 15,000 RNA-Seq datasets using new algorithms to uncover the landscape of allelic expression. Led by...

Illumina Acquires IDbyDNA

June 24, 2022

Illumina has acquired IDbyDNA, a company developing metagenomic technology for infectious disease testing and pathogen surveillance. Read the full press release here.

Newest Member of the Benning Medical Society

May 5, 2022

Gabor Marth, DSc, is a professor of human genetics and is co-director of the Utah Center for Genetic Discovery. Marth’s research is focused on developing computational tools...

ARTIFICIAL INTELLIGENCE IDENTIFIES INDIVIDUALS AT RISK FOR HEART DISEASE COMPLICATIONS

January 27, 2022

University of Utah Health scientists, Mark Yandell, PhD, and Martin Tristani-Firouzi, MD, used artificial intelligence to better predict the onset and outcomes of heart disease

U OF U HOSPITAL LAUNCHES RAPID DNA TESTING OF CRITICALLY-ILL INFANTS FOR FASTER DIAGNOSIS, BETTER CARE

February 18, 2020

In collaboration with ARUP and U of U’s Center for Genomic Medicine, Mark Yandell from the Utah Center for Genetic Discovery use rapid whole genome…

GENES HOP, SKIP, AND JUMP TO ALTER THE HUMAN GENETIC CODE IN ABOUT ONE IN 20 BIRTHS

December 13, 2019

Lynn B. Jorde, PhD, chair of U of U Health’s Department of Human Genetics, is studying how “jumping genes”, known as mobile elements, are capable…

GRANT FROM CHAN ZUCKERBERG INITIATIVE TO FACILITATE GENOME ANALYSIS

November 14, 2019

Aaron Quinlan, PhD, associate director of the Utah Center for Genetic Discovery at University of Utah Health, is one of 32 selected proposals that were awarded…

How many mutations do parents pass on?

November 1, 2019

Tom Sasani from the Quinlan lab talks about his recent work on this eLIFE podcast

Penelope Program Aids Passage of Utah Legislation to Benefit Children with Undiagnosed Diseases

October 23, 2019

UCGD analysts are participating in gene discovery research for the Penelope clinic.

WE ARE ALL MUTANTS, MORE OR LESS

September 24, 2019

Aaron Quinlan, Professor of Human Genetics, and Tom Sasani, a graduate student in the Quinlan lab at the Utah Center for Genetic Discovery, discuss the…

The University of Utah: what is the Penelope Program?

August 6, 2019

Drs. Gabor Marth, Co-Director of the USTAR Center for Genetic Discovery, and Lorenzo Botto, Professor of Pediatrics, collaborate on the Penelope Program for rare and undiagnosed…

BIG DATASETS PINPOINT NEW REGIONS TO EXPLORE THE GENOME FOR DISEASE

December 12, 2018

Aaron Quinlan and his graduate student, Jim Havrilla, from the USTAR Center for Genetic Discovery, created a new genetic model that combs through thousands of…

Undiagnosed Diseases Network Expands to Include University of Utah

October 2, 2018

The National Institutes of Health has awarded $3 million to The U of U Health, the Children’s Hospital of Philadelphia, the University of Pennsylvania and…

A MISSION TO SOLVE MEDICAL MYSTERIES: UNIVERSITY OF UTAH HEALTH JOINS NATIONAL UNDIAGNOSED DISEASE NETWORK

September 25, 2018

Scientists from the USTAR Center for Genetic Discovery are working with Dr. Lorenzo Botto, Professor of Pediatrics at U of U Health, to find answers…

GENETIC TOOLS UNCOVER CAUSE OF CHILDHOOD SEIZURE DISORDER MISSED BY OTHER METHODS

August 13, 2018

Aaron Quinlan and Gabor Marth from the USTAR Center for Genetic Discovery, use computational tools to find mutations responsible for early infantile epileptic encephalopathy.

Running to Support the PENELOPE Undiagnosed Disease Clinic

April 23, 2018

Local events are a great way to get involved in genomics research. Participate in a local fun run to support Utah’s Penelope Undiagnosed Disease Clinic.

Collaboration with Janssen Advances Critical Research

March 16, 2018

Deb Neklason, Marcus Pezzolesi and John Bohnsack from the University of Utah are collaborating with Janssen Research and Development LLC to study colorectal cancer, diabetic…

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