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Karen E. Weck, MD

Professor Director of the Molecular Genetics Laboratory Program Director, Molecular Genetic Pathology Fellowship

Research Interests

My major research interest is translation of new knowledge of the genetic causes of disease into diagnostic testing. The goal is to better characterize the spectrum, incidence and genotype-phenotype correlation of mutations associated with disease and to develop clinical testing in those genes with clinical utility. Dr. Weck has been co-investigator of several NIH-funded grants to implement exome/genome sequencing for diagnosis of genetic diseases from prenatal testing to adults, and is a member of the NHGRI Clinical Sequencing Evidence-Generating Research (CSER) consortium. She has been co-investigator of several institutional clinical trials to study the clinical utility of pharmacogenomics guided therapy and of the UNCseq tumor sequencing study to implement genomic sequencing for somatic mutation testing in cancer.  Dr. Weck’s laboratory has developed mutation testing for genes associated with primary ciliary dyskinesia, X-linked Alport syndrome, and focal segmental glomerulosclerosis (FSGS). The UNC molecular genetics laboratory is now one of the few laboratories in the country that offers clinical genetic testing for mutations associated with these diseases.

 

Awards and Honors

2020 President, Association for Molecular Pathology

2018 Distinguished Service Award, College of American Pathologists

2008 Philip M. Blatt Award for Excellence in Resident Training in Clinical Pathology

 

Selected publications:

  1. Roman TS, Crowley SB, Roche MI, et al. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project. Am J Hum Genet. 2020 Oct 1;107(4):596-611. Epub 2020 Aug 26. PMID: 32853555
  2. Pratt VM, Cavallari LH, Del Tredici AL, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, Whirl-Carrillo M, Weck KE. Recommendations for Clinical Warfarin Genotyping Allele Selection: A Report of the Association for Molecular Pathology and the College of American Pathologists. J Mol Diagn. 2020 Jul;22(7):847-859. PMID: 32380173
  3. Martin J, Williams AK, Klein MD, Sriramoju VB, Madan S, Rossi JS, Clarke M, Cicci JD, Cavallari LH, Weck KE, Stouffer GA, Lee CR. Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting. Genet Med. 2020;22:160-169. PMID: 31316169
  4. Weck KE. The next generation of molecular pathology is here: Validation of Next-generation sequencing technology for clinical molecular testing across multiple different disciplines. Arch Pathol Lab Med. 2017;141(6), 749-50.  PMID: 28557596
  5. Vora NL, Powell B, Brandt A, Strande N, Hardisty E, Gilmore K, Foreman AKM, Wilhelmsen K, Bizon C, Reilly J, Owen P, Powell CM, Skinner D, Rini C, Lyerly AD, Boggess KA, Weck K, Berg JS, Evans JP. Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.  Genet Med. 2017 May 18 [Epub ahead of print].  PMID: 28518170
  6. Berg JS, Foreman AK, O’Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.  Genet Med. 2015 Aug 13 [Epub ahead of print]. PMID: 26270767
  7. International Warfarin Pharmacogenetics Consortium. Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data.  N Engl J Med 360:753-764, 2009.
  8. Weck, K.E., DalCanto, A., Gould, J.D., Speck, S.H., and Virgin, H.W. Murine Gammaherpesvirus 68 Causes Severe Large Vessel Arteritis in Mice Lacking Interferon-gamma Responsiveness: A New Model for Virus Induced Vascular Disease.  Nature Medicine 1997; 3:1346-1353.  Article featured on the journal cover.

 

List of publications from PubMed

Karen Weck