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Genomics with Far-reaching Impact

To speed development of preventative therapies, diagnostics, and treatments for disease, the Utah Genome Project (UGP) is sequencing and analyzing the genomes of thousands of individuals. These people are represented in the Utah Population Database (UPDB) the world's largest, most comprehensive population database containing medical records and pedigrees that are at high-risk for inherited disorders. By leveraging this unique resource, UGP investigators are identifying genetic risk factors for dozens of conditions that impact people worldwide, including:


  • 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


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


  • Spontaneous preterm birth
  • Primary ovarian insufficiency

Other Conditions

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