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Lynn Jorde Department of Human Genetics Eccles Institute of Human Genetics 1 April 2014

T he Utah Genome Project. Lynn Jorde Department of Human Genetics Eccles Institute of Human Genetics 1 April 2014. Cost (log 10 scale) of whole-genome DNA sequencing. $3 billion. $100,000,000. $25,000. $3,000. Utah Population Database (UPDB).

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Lynn Jorde Department of Human Genetics Eccles Institute of Human Genetics 1 April 2014

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  1. The Utah Genome Project Lynn Jorde Department of Human Genetics Eccles Institute of Human Genetics 1 April 2014

  2. Cost(log10 scale) of whole-genome DNA sequencing $3 billion $100,000,000 $25,000 $3,000

  3. Utah Population Database (UPDB) • University of Utah research resource, initiated in mid-1970s • ~7 million people in large multigenerational pedigrees • Linked to medical records • >100 approved projects http://www.hci.utah.edu/groups/ppr/

  4. Crohn disease in a UPDB kindred P < 0.001 for observed vs. expected affected individuals Stephen Guthery, MD, Dept. of Pediatrics

  5. UGP projects lead to discoveries Chronic lymphocytic leukemia (germline and cancer genomes) Amyotrophic lateral sclerosis Genetics of extreme thinness to develop obesity interventions Common variable immunodeficiency* Pharmacogenomics and spontaneous preterm birth* Severe pediatric immune-mediated diseases* Familial childhood cancer Multiple myeloma DNA repair genes and cancer Chronic myelomonocytic leukemia Recurrent/lethal prostate cancer Psoriasis and psoriatic arthritis Crohn disease* Chronic obstructive pulmonary disease Idiopathic pulmonary fibrosis* Familial cardiac arrhythmia* *New gene(s) identified

  6. Identification of a gene that causes atrial fibrillation in a large Utah kindred Martin Tristani-Firouzi, M.D.,Pediatric Cardiology 1812 1820                                  * *     * * * * * * * * * * * *          AF       AF onset <40 years   * LQTS * LQTS/AF * KCNQ1 R231H

  7. Identification of NFKB2 mutations in the pathogenesis of common variable immunodeficiency (CVID) Karin Chen, M.D., Pediatrics Family A Family B affected unaffected VAAST identifies germline mutations in NFKB2 as a cause of common variable immunodeficiency. (Chen et al., 2013, Am. J. Hum. Genet.) Collaborators in Depts. of Pediatrics, Pathology, Human Genetics, Molecular Medicine

  8. Pharmacogenomics of 17-alpha hydroxyprogesteronecaproate for recurrent preterm birth preventionTracy Manuck, M.D., Ob/Gyn Case-control study of responders and non-responders to 17P treatment to prevent recurrent spontaneous preterm birth VAAST identifies NOS1 (nitric oxide synthase) as a mediator of response to 17P therapy (Manucket al., 2014, Am. J. Obstet. Gynecol.)

  9. Identification of STAT1 mutations in a child with severe enteropathy Stephen Guthery, M.D., Pediatric Gastroenterology proband affected unaffected exome sequenced

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