College of Medicine / About / Departments / Biomedical Science Department / Gerda Breitwieser, Ph.D.


  
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Charles E. Schmidt College of Medicine
Florida Atlantic University
777 Glades Road
Boca Raton, FL 33431

(561) 297-4828
cominfo@health.fau.edu

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Gerda Breitwieser, Ph.D.

Professor of Biomedical Science


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CONTACT
gbreitwieser@health.fau.edu
Tel. (561) 297-0060

 

Throughout my career, I have built a strong track record in merging the biochemistry of G protein-coupled receptors with physiology.  I have worked on the calcium sensing receptor, CaSR, since the mid-1990s.  We began with a detailed characterization of signaling, including the first studies of CaSR-mediated Ca2+ oscillations, leading rapidly to structure/function studies and identification of allosteric drug binding sites in collaboration with Novartis.  More recently, we focused on clinically relevant CaSR mutations, and their effects on trafficking and signaling, demonstrating that certain calcimimetics and calcilytics can act as pharmacochaperones to rescue mutants from degradation and normalize function.  We made a major breakthrough in defining the unique mechanism, which sustains CaSR signaling in the presence of extracellular calcium, i.e., agonist-driven insertional signaling (ADIS).  In our studies on CaSR, we have consistently opened new areas of investigation, and developed and shared new methodologies with those in the field. Recently, we made another seismic shift in focus, made possible by the recent Geisinger-Regeneron agreement to undertake whole exome sequencing of ≥250,000 patients (DiscovEHR).  Linked with longitudinal clinical data on a very stable patient population, we are able to take advantage of this avalanche of data to link variants in G protein-coupled receptors (GPCRs) with disease phenotypes in an unbiased manner.  During the past few years, I have had productive collaborative interactions with a core group at Geisinger Health System, including Drs. Carey and Smelser, focused on linking exonic variants with associated clinical phenotypes, with the ultimate goal of improving patient diagnoses and developing new therapeutic targets.  We validated the integration of genomics into our study of GPCRs using our extensive knowledge and experience with CaSR. At FAU, in collaboration with Drs. Robishaw and Toll, we are studying orphan GPCRs (without known agonists), currently examining the role of GPR37L1 in migraine, particularly in females. These approaches will be expanded to additional medically relevant GPCRs in the coming years.

 


  • 1972-1976   B.S. (Honors); Chemistry and Zoology, University of Wisconsin-Milwaukee
  • 1976-1982   Ph.D; Biology (Molecular Biology) Washington University-St. Louis, Department of Physiology & Biophysics

 

  • 1982 - 1983   Research Associate, Univ. of Texas Medical Branch, Dept. of Physiol. & Biophys.
  • 1984 - 1987   Instructor, Univ. of Texas Medical Branch, Dept. of Physiology & Biophysics
  • 1987 - 1993   Assistant Professor of Physiology, Johns Hopkins University School of Medicine
  • 1993 - 2001   Associate Professor of Physiology, Johns Hopkins University School of Medicine
  • 2001 - 2003   Associate Professor of Biology (and Chemistry), Syracuse University, NY
  • 2002 - 2005   Adjunct Associate Professor of Pharmacology, SUNY Upstate Medical University
  • 2004 - 2005   Professor of Biology, Syracuse University, NY
  • 2005 - 2007   Staff Scientist, Weis Center for Research, Geisinger Clinic, PA
  • 2007 - 2019   Senior Scientist/Full Professor, Weis Center for Research, Geisinger Clinic, PA
  • 2019-present   Professor, Dept of Biomedical Science, Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL

  • Grant, M.P., Cavanaugh, A.C., and G.E. Breitwieser 14-3-3 proteins buffer intracellular calcium sensing receptors to constrain signaling. PLoS One, Aug. 28; 10(8):e0136702. DOI: 10.1371/journal.pone/0l36702, . (2015).

  • Verma, S.S., Lucas, A.M., Lavage, D.R., Leader, J.B., Metpally, R., Krishnamurthy, S., Dewey, F., Borecki, I., Lopez, A., Overton, J., Penn, J., Reid, J., Pendergrass, S.A., Breitwieser, G., Ritchie, M.D. Identifying genetic associations with variability in metabolic health and blood count laboratory values: Diving into the quantitative traits by leveraging longitudinal data from an EHR. Pacific Symposium in Biocomputing, 22, 533-544 (2017).

  • Gorvin, C.M., Metpally, R., Stokes, V., Hannan, F.M., Overton, J.D., Reid, J.G., Breitwieser, G.E., Thakker, R.V. (2018) Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signaling. Human Molecular Genetics, 27(5), 1054-1066 (2018).

  • Gorvin, C.M., Rogers, A., Hastoy, B., Tarasov, A., Frost, M., Sposini, S., Inoue, A., Whyte, M.P., Rorsman, P., Hanyaloglu, A.C., Breitwieser, G.E., Thakker, R.V. AP2 mutations impair calcium-sensing receptor trafficking and signaling, and show an endosomal pathway to spatially direct G-protein selectivity. Cell Reports, 22, 1054-1066 (2018).

  • Dershem, R., Jeffreys, K., Krishnamurthy, S., Carey, D.J., Metpally, R.P.R., Breitwieser, G.E. Rare synonymous variants make noise: Rare synonymous variantsin GPR39 have phenome-wide disease associations in common with loss-of-function variants and alter expression and function. Online at BioRxiv; https://www.biorxiv.org/content/early/2018/02/27/272955

  • Mattar, P., Bravo-Sagua, R., Tobar, N., Fuentes, C., Troncoso, R., Breitwieser, G., Lavandero, S., Cifuentes, M. Autophagy mediates calcium-sensing receptor-induced TNF production in human preadipocytes. BBA-Molecular Basis of Disease, 1864(11), 3585-3594 (2018).

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Honors

  • 1972   National Honor Society
  • 1973   Sigma Epsilon Sigma, University of Wisconsin-Milwaukee
  • 1976   Phi Beta Kappa, University of Wisconsin-Milwaukee
  • 1984   Notable Women of Texas
  • 1989   Sigma Xi, Johns Hopkins University School of Medicine
  • 1991-1995   Established Investigator, American Heart Association
  • 1995   Career Development Award, National Science Foundation

Professional Societies

  • 1990- 2000   Ad hoc reviewer, Physiology study section
  • 1990, 1991   NSF external reviewer
  • 1991-1993   Councilor, Society of General Physiologists
  • 1992   Ad hoc reviewer, General Medicine B
  • 1992-1999   Editorial Board, Journal of General Physiology
  • 1993-1995   American Heart Association, National Review Council: CCPP
  • 1994-1998   Executive Committee, AHA Basic Science Council
  • 1994-1997   Treasurer, Society of General Physiologists
  • 1996-2005   Editorial Board, American Journal of Physiology (Cell)
  • 1998   Ad hoc reviewer, Fullbright Awards, The Israel Science Foundation, and the Wellcome Trust
  • 1998-2001   U.S. National Committee/IUPAB, liason for Soc. of Gen. Physiologists
  • 1999-2006   Associate Editor, Circulation Research
  • 2000-2004   American Heart Association, National Review Council: CCPP
  • 2000   Ad hoc reviewer: NSF, Molecular and Cellular Biosciences; NIDDK, O’Brien Kidney Research Centers
  • 2003-2004   Ad hoc reviewer, NIH, MDCN4
  • 2004-2008   Member, NTRC (formerly MDCN4) study section, NIH
  • 2006   Alzheimer’s Foundation, Wellcome Trust, US-Israel Binational Foundation, ad hoc reviewer; NIH SEP Reviewer, Electrical Signaling, Ion Transport and Arrhythmias
  • 2007-2009   Alzheimer’s Foundation, US-Israel Binational Foundation, ad hoc reviewer
  • 2010-2012   College of Reviewers-Center for Scientific Review, NIH
  • 2014-2019   Scientific Advisory Board, International Research Consortium on CaSR: CaSR Biomedicine, a training program for graduate and post-graduate students in the EU.


Last Modified 10/16/19