Lisa Kalman
Centers for Disease Control and Prevention
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Publication
Featured researches published by Lisa Kalman.
Nature Biotechnology | 2012
Amy S. Gargis; Lisa Kalman; Meredith W Berry; David P. Bick; David Dimmock; Tina Hambuch; Fei Lu; Elaine Lyon; Karl V. Voelkerding; Barbara A. Zehnbauer; Richa Agarwala; Sarah F. Bennett; Bin Chen; Ephrem L.H. Chin; John Compton; Soma Das; Daniel H. Farkas; Matthew J. Ferber; Birgit Funke; Manohar R. Furtado; Lilia Ganova-Raeva; Ute Geigenmüller; Sandra J Gunselman; Madhuri Hegde; Philip L. F. Johnson; Andrew Kasarskis; Shashikant Kulkarni; Thomas Lenk; Cs Jonathan Liu; Megan Manion
Amy S Gargis, Centers for Disease Control and Prevention Lisa Kalman, Centers for Disease Control and Prevention Meredith W Berry, SeqWright Inc David P Bick, Medical College of Wisconsin David P Dimmock, Medical College of Wisconsin Tina Hambuch, Illumina Clinical Services Fei Lu, SeqWright Inc Elaine Lyon, University of Utah Karl V Voelkerding, University of Utah Barbara Zehnbauer, Emory University
Molecular Microbiology | 2005
Akwasi Anyanful; Jennifer M. Dolan-Livengood; Taiesha Lewis; Seema Sheth; Mark N. DeZalia; Melanie A. Sherman; Lisa Kalman; Guy M. Benian; Daniel Kalman
Pathogenic Escherichia coli, including enteropathogenic E. coli (EPEC), enterohaemorrhagic E. coli (EHEC), enteroinvasive E. coli (EIEC) and enterotoxigenic E. coli (ETEC) are major causes of food and water‐borne disease. We have developed a genetically tractable model of pathogenic E. coli virulence based on our observation that these bacteria paralyse and kill the nematode Caenorhabditis elegans. Paralysis and killing of C. elegans by EPEC did not require direct contact, suggesting that a secreted toxin mediates the effect. Virulence against C. elegans required tryptophan and bacterial tryptophanase, the enzyme catalysing the production of indole and other molecules from tryptophan. Thus, lack of tryptophan in growth media or deletion of tryptophanase gene failed to paralyse or kill C. elegans. While known tryptophan metabolites failed to complement an EPEC tryptophanase mutant when presented extracellularly, complementation was achieved with the enzyme itself expressed either within the pathogen or within a cocultured K12 strains. Thus, an unknown metabolite of tryptophanase, derived from EPEC or from commensal non‐pathogenic strains, appears to directly or indirectly regulate toxin production within EPEC. EPEC strains containing mutations in the locus of enterocyte effacement (LEE), a pathogenicity island required for virulence in humans, also displayed attenuated capacity to paralyse and kill nematodes. Furthermore, tryptophanase activity was required for full activation of the LEE1 promoter, and for efficient formation of actin‐filled membranous protrusions (attaching and effacing lesions) that form on the surface of mammalian epithelial cells following attachment and which depends on LEE genes. Finally, several C. elegans genes, including hif‐1 and egl‐9, rendered C. elegans less susceptible to EPEC when mutated, suggesting their involvement in mediating toxin effects. Other genes including sek‐1, mek‐1, mev‐1, pgp‐1,3 and vhl‐1, rendered C. elegans more susceptible to EPEC effects when mutated, suggesting their involvement in protecting the worms. Moreover we have found that C. elegans genes controlling lifespan (daf‐2, age‐1 and daf‐16), also mediate susceptibility to EPEC. Together, these data suggest that this C. elegans/EPEC system will be valuable in elucidating novel factors relevant to human disease that regulate virulence in the pathogen or susceptibility to infection in the host.
The Journal of Molecular Diagnostics | 2012
Iris Schrijver; Nazneen Aziz; Daniel H. Farkas; Manohar R. Furtado; Andrea Ferreira Gonzalez; Timothy C. Greiner; Wayne W. Grody; Tina Hambuch; Lisa Kalman; Jeffrey A. Kant; Roger D. Klein; Debra G. B. Leonard; Ira M. Lubin; Rong Mao; Narasimhan Nagan; Victoria M. Pratt; Mark E. Sobel; Karl V. Voelkerding; Jane S. Gibson
This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.
Genetics in Medicine | 2004
Lisa Kalman; Mary Lou Lindegren; Lisa Kobrynski; Robert F. Vogt; Harry Hannon; Joelyn Tonkin Howard; Rebecca H. Buckley
Severe combined immunodeficiency (SCID) is an inherited immune disorder characterized by T-cell lymphopenia (TCLP), a profound lack of cellular (T-cell) and humoral (B-cell) immunity and, in some cases, decreased NK-cell number and function. Affected children develop severe bacterial and viral infections within the first 6 months of life and die before 1 year of age without treatment. Mutations in any of eight known genes:IL2RG, ARTEMIS, RAG1, RAG2, ADA, CD45, JAK3, and IL7R cause SCID. Mutations in unidentified genes may also cause SCID. Population-based genotype and allelic frequencies of these gene defects have not been measured. Some minimal estimates of SCID prevalence are presented. Currently, hematopoietic stem cell transplants are the standard treatment. In clinical trials, gene therapy has been used to reconstitute immune function in patients with IL2RG and ADA defects. The availability of effective therapies, plus the short asymptomatic period after birth, (when stem-cell transplantation is most effective), make SCID a potentially good candidate for newborn screening. Dried blood spots are currently collected from all infants at birth for newborn metabolic screening. Tests for TCLP on dried blood spots could be developed as a screen for SCID. Because SCID may be unrecognized, with infant deaths from infection attributed to other causes, newborn screening is the only way to ascertain true birth prevalence. Validated tests and pilot population studies are necessary to determine newborn screening’s potential for identifying infants with SCID.
Nature Biotechnology | 2015
Amy S. Gargis; Lisa Kalman; David P. Bick; Cristina da Silva; David Dimmock; Birgit Funke; Sivakumar Gowrisankar; Madhuri Hegde; Shashikant Kulkarni; Christopher E. Mason; Rakesh Nagarajan; Karl V. Voelkerding; Elizabeth A. Worthey; Nazneen Aziz; John Barnes; Sarah F. Bennett; Himani Bisht; Deanna M. Church; Zoya Dimitrova; Shaw R. Gargis; Nabil Hafez; Tina Hambuch; Fiona Hyland; Ruth Ann Luna; Duncan MacCannell; Tobias Mann; Megan R. McCluskey; Timothy K. McDaniel; Lilia Ganova-Raeva; Heidi L. Rehm
Amy S Gargis, Centers for Disease Control & Prevention Lisa Kalman, Centers for Disease Control & Prevention David P Bick, Medical College of Wisconsin Cristina da Silva, Emory University David P Dimmock, Medical College of Wisconsin Birgit H Funke, Partners Healthcare Personalized Medicine Sivakumar Gowrisankar, Partners Healthcare Personalized Medicine Madhuri Hegde, Emory University Shashikant Kulkarni, Washington University Christopher E Mason, Cornell University
The Journal of Molecular Diagnostics | 2010
Victoria M. Pratt; Barbara A. Zehnbauer; Jean Amos Wilson; Ruth Baak; Nikolina Babic; Maria P. Bettinotti; Arlene Buller; Ken Butz; Matthew Campbell; Chris J. Civalier; Abdalla El-Badry; Daniel H. Farkas; Elaine Lyon; Saptarshi Mandal; Jason McKinney; Kasinathan Muralidharan; Le Anne Noll; Tara L. Sander; Junaid Shabbeer; Chingying Smith; Milhan Telatar; Lorraine Toji; Anand Vairavan; Carlos Vance; Karen E. Weck; Alan H.B. Wu; Kiang-Teck J. Yeo; Markus Zeller; Lisa Kalman
Pharmacogenetic testing is becoming more common; however, very few quality control and other reference materials that cover alleles commonly included in such assays are currently available. To address these needs, the Centers for Disease Control and Preventions Genetic Testing Reference Material Coordination Program, in collaboration with members of the pharmacogenetic testing community and the Coriell Cell Repositories, have characterized a panel of 107 genomic DNA reference materials for five loci (CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1) that are commonly included in pharmacogenetic testing panels and proficiency testing surveys. Genomic DNA from publicly available cell lines was sent to volunteer laboratories for genotyping. Each sample was tested in three to six laboratories using a variety of commercially available or laboratory-developed platforms. The results were consistent among laboratories, with differences in allele assignments largely related to the manufacturers assay design and variable nomenclature, especially for CYP2D6. The alleles included in the assay platforms varied, but most were identified in the set of 107 DNA samples. Nine additional pharmacogenetic loci (CYP4F2, EPHX1, ABCB1, HLAB, KIF6, CYP3A4, CYP3A5, TPMT, and DPD) were also tested. These samples are publicly available from Coriell and will be useful for quality assurance, proficiency testing, test development, and research.
Clinical Pharmacology & Therapeutics | 2016
Lisa Kalman; Jag Agúndez; M Lindqvist Appell; Jl Black; Gillian C. Bell; Sotiria Boukouvala; C Bruckner; Elspeth A. Bruford; Kelly E. Caudle; Sally A. Coulthard; Ann K. Daly; Al Del Tredici; J.T. den Dunnen; K Drozda; Robin E. Everts; David A. Flockhart; Robert R. Freimuth; Andrea Gaedigk; Houda Hachad; Toinette Hartshorne; Magnus Ingelman-Sundberg; Teri E. Klein; Volker M. Lauschke; Maglott; Howard L. McLeod; Gwendolyn A. McMillin; Urs A. Meyer; Daniel J. Müller; Deborah A. Nickerson; William S. Oetting
This article provides nomenclature recommendations developed by an international workgroup to increase transparency and standardization of pharmacogenetic (PGx) result reporting. Presently, sequence variants identified by PGx tests are described using different nomenclature systems. In addition, PGx analysis may detect different sets of variants for each gene, which can affect interpretation of results. This practice has caused confusion and may thereby impede the adoption of clinical PGx testing. Standardization is critical to move PGx forward.
Advances in Experimental Medicine and Biology | 2010
Scott D. Grosse; Lisa Kalman; Muin J. Khoury
The conventional criteria for evaluating genetic tests include analytic validity, clinical validity, and clinical utility. Analytical validity refers to a tests ability to measure the genotype of interest accurately and reliably. Clinical validity refers to a tests ability to detect or predict the clinical disorder or phenotype associated with the genotype. Clinical utility of a test is a measure of its usefulness in the clinic and resulting changes in clinical endpoints. In addition, the utility to individuals and families of genomic information, or personal utility, should be considered. This chapter identifies methodological and data issues involved in assessing each type of validity or utility. The validity and utility of a test must be considered in a specific context, which include diagnostic testing, newborn screening, prenatal carrier screening, and family or cascade screening. Specific rare disorders addressed include cystic fibrosis, fragile X syndrome, Duchenne and Becker muscular dystrophy, spinal muscular atrophy, Huntington disease, as well as cancer associated with BRCA mutations.
Genetics in Medicine | 2005
Bin Chen; Catherine D. O'Connell; D. Joe Boone; Jean A. Amos; Jeanne C. Beck; Maria M. Chan; Daniel H. Farkas; Roger V. Lebo; Carolyn Sue Richards; Benjamin B. Roa; Lawrence M. Silverman; David E. Barton; Bassem A. Bejjani; Dorothy R. Belloni; Susan H. Bernacki; Michele Caggana; Patricia Charache; Elisabeth Dequeker; Andrea Ferreira-Gonzalez; Kenneth J. Friedman; Carol L. Greene; Wayne W. Grody; William Edward Highsmith; Cecelia S. Hinkel; Lisa Kalman; Ira M. Lubin; Elaine Lyon; Deborah A. Payne; Victoria M. Pratt; Elizabeth M. Rohlfs
Purpose: To provide a summary of the outcomes of two working conferences organized by the Centers for Disease Control and Prevention (CDC), to develop recommendations for practical, sustainable mechanisms to make quality control (QC) materials available to the genetic testing community.Methods: Participants were selected to include experts in genetic testing and molecular diagnostics from professional organizations, government agencies, industry, laboratories, academic institutions, cell repositories, and proficiency testing (PT)/external Quality Assessment (EQA) programs. Current efforts to develop QC materials for genetic tests were reviewed; key issues and areas of need were identified; and workgroups were formed to address each area of need and to formulate recommendations and next steps.Results: Recommendations were developed toward establishing a sustainable process to improve the availability of appropriate QC materials for genetic testing, with an emphasis on molecular genetic testing as an initial step.Conclusions: Improving the availability of appropriate QC materials is of critical importance for assuring the quality of genetic testing, enhancing performance evaluation and PT/EQA programs, and facilitating new test development. To meet the needs of the rapidly expanding capacity of genetic testing in clinical and public health settings, a comprehensive, coordinated program should be developed. A Genetic Testing Quality Control Materials Program has therefore been established by CDC in March 2005 to serve these needs.
The Journal of Molecular Diagnostics | 2008
Jean Amos Wilson; Victoria M. Pratt; Amit Phansalkar; Kasinathan Muralidharan; W. Edward Highsmith; Jeanne C. Beck; Scott J. Bridgeman; Ebony M. Courtney; Lidia Epp; Andrea Ferreira-Gonzalez; Nick L. Hjelm; Leonard M. Holtegaard; Mohamed Jama; John P. Jakupciak; Monique A. Johnson; Paul Labrousse; Elaine Lyon; Thomas W. Prior; C. Sue Richards; Kristy L. Richie; Benjamin B. Roa; Elizabeth M. Rohlfs; Tina Sellers; Stephanie L. Sherman; Karen A. Siegrist; Lawrence M. Silverman; Joanna Wiszniewska; Lisa Kalman
Fragile X syndrome, which is caused by expansion of a (CGG)(n) repeat in the FMR1 gene, occurs in approximately 1:3500 males and causes mental retardation/behavioral problems. Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome. An FMR1-sizing assay is technically challenging because of high GC content of the (CGG)(n) repeat, the size limitations of conventional PCR, and a lack of reference materials available for test development/validation and routine quality control. The Centers for Disease Control and Prevention and the Association for Molecular Pathology, together with the genetic testing community, have addressed the need for characterized fragile X mutation reference materials by developing characterized DNA samples from 16 cell lines with repeat lengths representing important phenotypic classes and diagnostic cutoffs. The alleles in these materials were characterized by consensus analysis in nine clinical laboratories. The information generated from this study is available on the Centers for Disease Control and Prevention and Coriell Cell Repositories websites. DNA purified from these cell lines is available to the genetics community through the Coriell Cell Repositories. The public availability of these reference materials should help support accurate clinical fragile X syndrome testing.