Karl Coe Desch, MD
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About
After completing my medical training and residency in Pediatrics at Washington University in Saint Louis, I began my subspecialty training in Neonatology at the University of Michigan. During my fellowship training I worked as a postdoctoral fellow in the laboratory of David Ginsburg where I learned to use modern genetic techniques to investigate disorders of bleeding and thrombosis. I have an independent bench research program focused on genetic determinants of thrombosis and hemostasis and have established national and international collborations.
As an active attending Neonatologist, my clinical work focuses on the care of newborns with severe illness related to prematurity, transitional disorders, congenital anomalies or overwhelming infection. I also provide antenatal consultation to parents with complicated pregnancies. I work in a multidisciplinary level 4 NICU where I lead teams of neonatology fellows, pediatric residents and advance practice nurses and physician assistants. I have been directing recruitment of new faculty to our Division of Neonatal-Perinatal Medicine. I have specific clinical interests in the area of transfusion, anticoagulation and ECMO and have helped to develop clinical practice guidelines in our NICU related to these areas.
Qualifications
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Neonatal-Perinatal Medicine FellowshipUniversity of Michigan–Ann Arbor, Pediatrics, Ann Arbor, United States
2002 - 2005
Clinical Fellowship
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Pediatric ResidencySaint Louis University Hospital, Pediatrics, St Louis, United States
1997 - 2000
Residency
Center Memberships
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Center MemberWeil Institute for Critical Care Research
Research Overview
My laboratory investigates the genetic determinants of complex phenotypes that surround the maintenance of hemostasis and the avoidance of hemorrhage or excessive thrombosis. We have developed expertise in computational genetics (genome-wide association studies, rare variant association studies, mendelian randomization) and bench based genetic screens (phage display, deep mutational scanning, lentivirus delivered CRISPR targeting and proximity labeling proteomics). I train undergraduates, PhD and post-doctoral fellows in basic cell and molecular biology techniques to answer questions regarding the role of human genetic variation in thrombosis and hemostasis. My research work is primarily funded by the NIH-NHLBI. I serve on ad hoc NIH F30/F31/F32 and R01 study sections and I am an active member of the American Society of Hematology where I serve on ASH Scholar study sections and until 2023 on the scientific subcommittee on Epigenetics and Genomics. I have established institutional, national and international collaborations and present our work at national and international meetings. I currently serve as an associate editor for the Journal of Thrombosis and Haemostasis focusing on manuscripts using genomic tools or pediatric populations. I serve on the variant curation expert panel for von Willebrand disease as a part of ClinGen.
Recent Publications
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Hindy G, Tyrrell DJ, Vasbinder A, Wei C, Presswalla F, Wang H, Blakely P, Ozel AB, Graham S, Holton GH, Dowsett J, Fahed AC, Amadi K-M, Erne GK, Tekmulla A, Ismail A, Launius C, Sotoodehnia N, Pankow JS, Thørner LW, Erikstrup C, Pedersen OB, Banasik K, Brunak S, Ullum H, Eugen-Olsen J, Ostrowski SR, DBDS Consortium , Haas ME, Nielsen JB, Lotta LA, Regeneron Genetics Center , Engström G, Melander O, Orho-Melander M, Zhao L, Murthy VL, Pinsky DJ, Willer CJ, Heckbert SR, Reiser J, Goldstein DR, Desch KC, Hayek SS. J Clin Invest, 2022 Dec 15; 132 (24):Journal ArticleIncreased soluble urokinase plasminogen activator levels modulate monocyte function to promote atherosclerosis.
DOI:10.1172/JCI158788 PMID: PMC9754000 -
Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Golden K, Underwood M, Germain M, Tregouet D-A, Reitsma PH, Kearon C, Mokry L, Richards JB, Williams F, Li JZ, Goldstein D, Ginsburg D. Blood, 2020 Jul 30; 136 (5): 533 - 541.Journal ArticleWhole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
DOI:10.1182/blood.2019004161 PMID: PMC7393257 -
Sabater-Lleal M, Huffman JE, de Vries PS, Marten J, Mastrangelo MA, Song C, Pankratz N, Ward-Caviness CK, Yanek LR, Trompet S, Delgado GE, Guo X, Bartz TM, Martinez-Perez A, Germain M, de Haan HG, Ozel AB, Polasek O, Smith AV, Eicher JD, Reiner AP, Tang W, Davies NM, Stott DJ, Rotter JI, Tofler GH, Boerwinkle E, de Maat MPM, Kleber ME, Welsh P, Brody JA, Chen M-H, Vaidya D, Soria JM, Suchon P, van Hylckama Vlieg A, Desch KC, Kolcic I, Joshi PK, Launer LJ, Harris TB, Campbell H, Rudan I, Becker DM, Li JZ, Rivadeneira F, Uitterlinden AG, Hofman A, Franco OH, Cushman M, Psaty BM, Morange P-E, McKnight B, Chong MR, Fernandez-Cadenas I, Rosand J, Lindgren A, INVENT Consortium; MEGASTROKE Consortium of the International Stroke Genetics Consortium (ISGC) , Gudnason V, Wilson JF, Hayward C, Ginsburg D, Fornage M, Rosendaal FR, Souto JC, Becker LC, Jenny NS, März W, Jukema JW, Dehghan A, Trégouët D-A, Morrison AC, Johnson AD, O'Donnell CJ, Strachan DP, Lowenstein CJ, Smith NL. Circulation, 2019 Jan 29; 139 (5): 620 - 635.Journal ArticleGenome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
DOI:10.1161/CIRCULATIONAHA.118.034532 PMID: PMC6438386 -
Desch KC. F1000Res, 2018 7: 96Journal ArticleRegulation of plasma von Willebrand factor.
DOI:10.12688/f1000research.13056.1 PMID: PMC5782404 -
Ma Q, Jacobi PM, Emmer BT, Kretz CA, Ozel AB, McGee B, Kimchi-Sarfaty C, Ginsburg D, Li JZ, Desch KC. Blood Adv, 2017 Jun 27; 1 (15): 1037 - 1046.Journal ArticleGenetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.
DOI:10.1182/bloodadvances.2017005629 PMID: PMC5728318 -
Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Germain M, Tregouet DA, Reitsma PH, Goldstein D, Ginsburg D. Blood, 2019 Nov 19; 128 (22): 3794Proceeding / Abstract / PosterExome Sequencing in Venous Thromboembolic Disease Identifies Excess Mutation Burden in PROS1, PROC, SERPINC1 and STAB2
DOI:10.1182/blood.v128.22.3794.3794 -
Desch KC, Kretz C, Yee A, Gildersleeve R, Metzger K, Agrawal N, Cheng J, Ginsburg D. PLoS One, 2015 10 (4): e0122931Journal ArticleProbing ADAMTS13 substrate specificity using phage display.
DOI:10.1371/journal.pone.0122931 PMID: PMC4388381 -
Ma Q, Ozel AB, Ramdas S, McGee B, Khoriaty R, Siemieniak D, Li H-D, Guan Y, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC. Blood, 2014 Nov 13; 124 (20): 3155 - 3164.Journal ArticleGenetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.
DOI:10.1182/blood-2014-03-560086 PMID: PMC4231423
