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The Utah Genome Project
Lynn Jorde
Department of Human Genetics
Eccles Institute of Human Genetics
1 April 2014
Cost (log10 scale) of whole-genome DNA sequencing
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$3 billion
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$100,000,000
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$25,000
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$3,000
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2003
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2009
2013
Utah Population Database (UPDB)
http://www.hci.utah.edu/groups/ppr/
Crohn disease in a UPDB kindred
P < 0.001 for observed vs. expected affected individuals
Stephen Guthery, MD, Dept. of Pediatrics
UGP projects lead to discoveries
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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*
*New gene(s) identified
Familial cardiac arrhythmia*
Identification of a gene that causes atrial
fibrillation in a large Utah kindred
Martin Tristani-Firouzi, M.D., Pediatric Cardiology
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AF
AF onset <40 years
LQTS
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LQTS/AF
KCNQ1 R231H
1820
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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
Pharmacogenomics of 17-alpha
hydroxyprogesterone caproate for
recurrent preterm birth prevention
Tracy 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
(Manuck et al., 2014, Am. J. Obstet. Gynecol.)
Identification of STAT1 mutations in a child
with severe enteropathy
Stephen Guthery, M.D., Pediatric Gastroenterology
proband
affected
unaffected
exome sequenced