Featured Projects

Far-Reaching Impact

grid of diseases

The Utah Population Database (UPDB) is the world's largest, most comprehensive population database containing medical records and pedigrees that are at high-risk for inherited disorders, offering unparalleled opportunities to identify genetic causes of disease. Together with partner institutions - including Washington University, the Chan Soon-Shiong Family Foundation and Chan Soon-Shiong Institute of Advanced Health, and Regeneron Genetics Center, a wholly owned subsidiary of Regeneron, Inc. - the Utah Genome Project is sequencing and analyzing the genomes of over 6,000 individuals represented within the UPDB. The goal is to speed development of preventative therapies, diagnostics, and treatments for over 24 conditions that impact people across the world, including:

Cancers

  • Familial childhood cancers: Ewing sarcoma, Wilms tumor, germ cell tumors
  • Hematologic cancers: chronic lymphocytic leukemia, Chronic myeloid leukemia, multiple myeloma
  • Common cancers: breast, prostate, colorectal
  • Evolution of tumor mutations

Heart and Lung Diseases

  • Chronic obstructive pulmonary disease
  • Idiopathic pulmonary fibrosis
  • Congenital heart disease
  • Familial cardiac arrhythmia

Immune Diseases

  • Juvenile idiopathic arthritis
  • Crohn disease

Metabolism, Obesity, and Diabetes

  • Genetics of extreme thinness to develop obesity interventions
  • Idiopathic hypogonadotropic hypogonadism
  • The role of brown adipose tissue in metabolic disease

Neurological

  • Amyotrophic lateral sclerosis
  • Chiari malformations
  • Early infantile epileptic encephalopathy
  • Ataxia
  • Autism
  • Suicide

Reproductive

  • Spontaneous preterm birth
  • Primary ovarian insufficiency

Other Conditions

  • Extreme longevity
  • Hereditary hemorrhagic telangiectasia
  • Hip dysplasia
  • Congenital diaphragmatic hernia
  • Tuberous sclerosis

Cancer

Breast, Ovarian, and Pancreatic Cancers

This study is characterizing cancer risks associated with 30 known breast, ovarian, or pancreatic cancer genes, with a goal of developing accurate screening and prevention strategies.

more...

Chronic Lymphocytic Leukemia

A large Utah family heavily enriched for chronic lymphocytic leukemia, the most common adult leukemia, is the focus of a study to identify the underlying genetic risk factors for the disease.

more...

Chronic Lymphocytic Leukemia, Analysis of Inherited and Cancer Genomes

Cancers are caused by changes in the DNA of tumor cells. This means that cancer genomes are different from an individual's inherited, or germline, genome. The joint analyses of germline and cancer genomes from members of a high-risk CLL Utah pedigree will answer critical questions in cancer genomics and will fuel development of novel software to analyze cancer genomes.

more...

Chronic Myelomonocytic Leukemia

Patients with Chronic Myelomonocytic Leukemia (CMML) have a very poor prognosis due to limited efficacy of current treatments. Researchers are identifying novel genetic changes in CMML that can be rationally targeted by drugs or can help to predict the best treatment or outcomes.

more...

Multiple Myeloma

Forty-three percent of patients with multiple myeloma, the second most common blood cancer, will die within five years of disease onset. Eleven large families enriched for multiple myeloma (MM) have been identified, and form the basis for discovery of MM genetic risk factors.

more...

Recurrent/Lethal Prostate Cancer

About 1/3 of individuals with prostate cancers develop recurrent/metastatic disease and eventually die from their prostate cancer. Multiple related cases of lethal prostate cancer have been found in extended Utah pedigrees that show a significant excess of prostate cancer. This project aims to identify predisposition genes or variants for the most serious cases of prostate cancer via the sequencing of related lethal prostate cancer cases with strong family history.

more...

Heart and Lung Diseases

Atrial fibrillation

Atrial Fibrillation (AF) is an irregular heartbeat associated with heart failure and stroke that is often left undiagnosed, leading to sudden medical crisis or death. With early diagnosis, prevention, and treatment with medications, these fates can be avoided. This project aims to sequence three large families to identify causative genes of AF.

more...

Chronic Obstructive Pulmonary Disease, COPD

Investigators are utilizing Utah genealogies to identify the most promising families for sequencing and discovery of genetic causes of COPD, the third leading cause of death in the U.S.

more...

Idiopathic Pulmonary Fibrosis, IPF

The goal of this study is to discover novel and specific genetic determinants for IPF, a chronic, progressive, and lethal form of lung disease.

more...

Immune Diseases

Common Variable Immune Deficiency (CVID)

Common variable immune deficiency (CVID) causes dangerously low levels of infection-fighting antibodies that, if left untreated, leads to recurrent infections. The “variable” in the name refers to the fact that more than 10 different mutations have so far been found to trigger the disease, though they only account for 10-20 percent of cases. This project is designed to discover new mutations that cause CVID in the vast majority of patients.

more...

Crohn Disease

Crohn disease is a painful and debilitating condition where the body’s immune system attacks the gastrointestinal tract (gut). The goal of this project is to examine two large Utah families at high risk for Crohn to identify genetic causes of the disease.

more...

Severe pediatric immune-mediated disease

The goal of this project is to identify genetic variants that cause severe, atypical immune-mediated diseases (IMDs) that defy categorization, and to identify and characterize genetic variants in families with inherited IMDs. A better understanding of the causes of IMDs will provide valuable insights into treating debilitating conditions such as Crohn, arthritis, and ulcerative colitis.

more...

Metabolism, Obesity, and Diabetes

Thinness Genes to Prevent Obesity

Obesity in the United States is reaching epidemic proportions, bringing with it a rise in associated health conditions, and a significant financial burden. This project will compare the genomes of 40 "healthy thin" and 20 overweight individuals to identify obesity resistance genes which may lead to new approaches to obesity control.

more...

Neurological

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's Disease, is a progressive neurodegenerative disorder, often causing total paralysis, for which there is no cure. The goal of this project is to identify novel mutations contributing to familial ALS using a combination of high-risk pedigrees from the UPDB and, with consent, samples from patients of University Health Care’s ALS multidisciplinary clinic.

more...

Preterm Birth

Preterm Birth Prevention

Spontaneous preterm births (SPTB) account for 70% of neonatal death and result in billions of direct health care costs. Treatment with progesterone can prevent SPTB; however, not all women respond to treatment. This project seeks to identify genetic factors that determine response versus nonresponse to progesterone treatment, a step toward individualizing preterm birth interventions.

more...

Spontaneous Preterm Birth

In the U.S., more than 12% of babies are born preterm, and the rate continues to rise. Despite the magnitude of the problem, the causes for preterm birth are not well understood. This project will sequence 70 women in families at high risk for spontaneous preterm birth (SPTB) to identify common and rare genetic causes for the condition.

more...