Karl C Desch
Clinical Associate Professor of Pediatrics
[email protected]

Available to mentor

Karl C Desch
Clinical Associate Professor
  • About
  • Qualifications
  • Research Overview
  • Recent Publications
  • 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 established in independent bench research program focused on 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 for three years. I have specific clinical interests in the area of transfusion, anticoagulation and ECMO and have helped to develop clinical practice guidlines in our NICU related to these areas.

    Qualifications
    • Neonatal-Perinatal Medicine Fellowship
      University of Michigan–Ann Arbor, Pediatrics, 2005
    • Pediatric Residency
      Saint Louis University Hospital, Pediatrics, 2000
    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 See All Publications
    • Journal Article
      Whole-exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease.
      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. DOI:10.1182/blood.2019004161
      PMID: 32457982
    • Journal Article
      Regulation of plasma von Willebrand factor.
      Desch KC. F1000Res, 2018 7: 96 DOI:10.12688/f1000research.13056.1
      PMID: 29416854
    • Journal Article
      Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.
      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. DOI:10.1182/bloodadvances.2017005629
      PMID: 29296746
    • Proceeding / Abstract / Poster
      Exome Sequencing in Venous Thromboembolic Disease Identifies Excess Mutation Burden in PROS1, PROC, SERPINC1 and STAB2
      Desch KC, Ozel AB, Halvorsen M, Jacobi PM, Germain M, Tregouet DA, Reitsma PH, Goldstein D, Ginsburg D. Blood, 2016 Dec 2; 128 (22): 3794 DOI:10.1182/blood.v128.22.3794.3794
    • Journal Article
      Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance.
      Ozel AB, McGee B, Siemieniak D, Jacobi PM, Haberichter SL, Brody LC, Mills JL, Molloy AM, Ginsburg D, Li JZ, Desch KC. J Thromb Haemost, 2016 Sep; 14 (9): 1888 - 1898. DOI:10.1111/jth.13401
      PMID: 27359253
    • Journal Article
      Probing ADAMTS13 substrate specificity using phage display.
      Desch KC, Kretz C, Yee A, Gildersleeve R, Metzger K, Agrawal N, Cheng J, Ginsburg D. PLoS One, 2015 10 (4): e0122931 DOI:10.1371/journal.pone.0122931
      PMID: 25849793
    • Journal Article
      Genetic variants in PLG, LPA, and SIGLEC 14 as well as smoking contribute to plasma plasminogen levels.
      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. DOI:10.1182/blood-2014-03-560086
      PMID: 25208887
    • Journal Article
      Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
      Desch KC, Ozel AB, Siemieniak D, Kalish Y, Shavit JA, Thornburg CD, Sharathkumar AA, McHugh CP, Laurie CC, Crenshaw A, Mirel DB, Kim Y, Cropp CD, Molloy AM, Kirke PN, Bailey-Wilson JE, Wilson AF, Mills JL, Scott JM, Brody LC, Li JZ, Ginsburg D. Proc Natl Acad Sci U S A, 2013 Jan 8; 110 (2): 588 - 593. DOI:10.1073/pnas.1219885110
      PMID: 23267103