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Edward R B McCabe III, M.D., Ph.D.

Mattel Executive Endowed Chair, Pediatrics

Professor, Bioengineering, Pediatrics

Co-Director, UCLA Center for Society and Genetics

Professor, Human Genetics

Member, ACCESS Program: Dept. of Human Genetics, NanoBiotechnology and Biomaterials, Brain Research Institute, California NanoSystems Institute, Molecular Biology Institute

Education:

Degrees:

Ph.D., University of Southern California, 1972

M.D.:

1974 - 1974 USC School of Medicine, USC School of Medicine

Certifications:

Certifications:

1982 American Board of Medical Genetics, American Board of Medical Genetics
1979 American Board of Pediatrics, American Board of Pediatrics

Honors and Awards:

2006 Department of Pediatrics, University of Utah School of Medicine, Glasgow Visitng Professorship
2005 Cedars-Sinai Medical Center, Los Angeles, California, Ben Kagan Lectureship
2005 Society for Pediatric Research, Maureen Andrew Mentorship Award
2005 Japanese Society for Inherited Metabolic Disease, Membership
2003 American Association for the Advancement of Science, Fellow
2003 Department of Pediatrics, University of California, Irvine, Dorothy Waffarn Memorial Lecture
2001 - Institute of Medicine, Membership
2001 Department of Pediatrics, University of Arkansas, First Florence Char, M.D., Visiting Professor
2001 Western Society for Pediatric Research, Carmel, California, Joseph W. St. Geme, Jr., Education Award
2001 UCLA Department of Internal Medic ine, Los Angeles, California, Anna Borun and Harry Borun Foundation Visiting Professor
2000 Wake Forrest University School of Medicine, Winston-Salem, North Carolina, Jimmy Simons Lectureship

Certifications:

Professional Societies:

Alpha Omega Alpha, Alpha Omega Alpha
American Academy of Pediatrics - Fellow, American Academy of Pediatrics - Fellow
American Association for the Advancement of Science, American Association for the Advancement of Science
American College of Medical Genetics -- Fellow, American College of Medical Genetics -- Fellow
American Federation for Clinical Research, American Federation for Clinical Research
American Federation for Medical Research, American Federation for Medical Research
American Pediatric Society, American Pediatric Society
American Society for Biochemistry and Molecular Biology, American Society for Biochemistry and Molecular Biology
American Society for Human Genetics, American Society for Human Genetics
Phi Kappa Phi, Phi Kappa Phi
Sigma Xi, Sigma Xi
Society for Inherited Metabolic Disorders-Charter Member, Society for Inherited Metabolic Disorders-Charter Member
Society for Pediatric Research, Society for Pediatric Research
Society for the Study of Inborn Errors Of Metabolism, Society for the Study of Inborn Errors Of Metabolism
The Endocrine Society, The Endocrine Society
Western Society for Pediatric Research, Western Society for Pediatric Research

Education:

Fellowship:

1976 - 1978 University of Colorado Health Science Center, University of Colorado Health Science Center

Internship:

1974 - 1975 University of Minnesota Hospital and Clinic, University of Minnesota Hospital and Clinic

Residency:

1975 - 1976 University of Minnesota Hospital and Clinic, University of Minnesota Hospital and Clinic

Contact Information:

Work Email Address:	emccabe@mednet.ucla.edu

Laboratory Address:	Laboratory Gonda 4309 UNITED STATES
Mailing Address:	Department of Pediatrics David Geffen Schoool of Medicine at UCLA 10833 Le Conte Ave. Los Angeles, CA 90095 UNITED STATES
Work Address:	Office MDCC 22-412 UNITED STATES

Work:	http://www.mattel.ucla.edu
ARR Papers:	http://www.cnsi.ucla.edu/arr/personnel-papers?personnel_id=9210

Work Phone Number:	310-825-5095 Office

Additional Information:

VIDEO: Dr. Edward McCabe - Our New Hospital

Dr. McCabe received his undergraduate education at Johns Hopkins University (1963-1967). He earned a Ph.D. (1972) and an M.D. (1974) at the University of Southern California. He completed a Pediatric Residency (1974-1976) at the University of Minnesota, and a Metabolism Fellowship (1976-1978) at the University of Colorado Health Science Center (UCHSC). As a Fellow, he discovered Glycerol Kinase Deficiency, and proceeded to characterize the biochemical nature of this disorder while an Instructor (1977-1978), Assistant Professor (1978-1982), and Associate Professor (1982-1986) at UCHSC. In 1986 he moved to Baylor College of Medicine as Associate Professor (1986-1988) and Professor (1988-1994). At Baylor, Dr. McCabe cloned the gene involved in Glycerol Kinase Deficiency and the gene for Adrenal Hypoplasia Congenita. He moved to UCLA as Professor and Executive Chair of the Department of Pediatrics (1994-Present) and joined the Department of Human Genetics (2000 to Present). Noting a lack of genotype/phenotype correlation for these single gene disorders, his research focuses on them as complex traits and explores the systems biology of each disorder.

Selected Publications:

Chen, K. Garcia-Lloret, M. I. McGhee, S. A. Srikanth, S. Gwack, Y. McCabe, E. R. B. , Characterization of Immunologic Function in a Case of Hereditary Multiple Intestinal Atresia with Immunodeficiency, Journal of Allergy and Clinical Immunology, 2009, 123 (2).

L.L. McCabe and E.R.B. McCabe, DNA: Promise and Peril, , 2008.

L.L. McCabe and E.R.B. McCabe, Expanded newborn screening: Implications for genomic medicine, Annual Review of Medicine, 2008, 59, 163-175.

Braskett, M. J. Venick, R. S. Lloret, M. I. G. Jain, A. McDiarmid, S. V. Vargas, J. H. Farme, D. G. McCabe, E. R. B. Busuttil, R. W. McGhee, S. , Food allergy and eczema in pediatric liver transplant patients treated with tacrolimus, Journal of Allergy and Clinical Immunology, 2008, 121 (2), 971.

C.M. Stanczak, Z. Chen, S.F. Nelson, M. Suchard, E.R. McCabe, and S. McGhee, Representational oligonucleotide microarray analysis (ROMA) , Human Mutation, 2008, 29, 176-181.

McGhee, S. A. Suchard, M. Bhardwaj, U. Zhang, Y. McCabe, E. R. B. , Copy number variations in del22q11.2 syndrome, Journal of Allergy and Clinical Immunology , 2007, 119 (1), S176-S176.

E.R. McCabe, DAX1: Increasing complexity in the roles of this novel nuclear receptor, Molecular Cellular Endocrinology, 2007, 265-266, 197-182.

C.M. Stanczak, Z. Chen, Y.-H. Zhang, S.F. Nelson, and E.R. McCabe, Deletion mapping in Xp21 for patients with complex glycerol kinase defficiency using mapping arrays., Human Mutation, 2007, 28, 235-242.

J.C. Liao, M. Mastali, Y. Li, V. Gau, M.A. Suchard, J. Babbitt, J. Gombein, E.M. Landaw, E.R. McCabe, B.M. Churchill, and D.A. Haake, Development of an advanced electrochemical DNA biosensor for bacterial detection, journal of Molecular Diagnosis, 2007, 9, 158-168.

Ohta, A. T. Chiou, P. Y. Han, T. H. Liao, J. C. Bhardwaj, U. McCabe, E. R. B. Yu, F. Q. Sun, R. Wu, M. C. , Dynamic cell and microparticle control via optoelectronic tweezers, Journal of Microelectromechanical Systems, 2007, 16 (3), 491-499.

A.K. Iyer, Y.-H. Zhang, and E.R. McCabe, LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization, Molecular Genetics and Metabolism, 2007, 92, 151-159.

E.R. McCabe, Robust complex disease and pediatric research, Pediatric Research, 2007, 62, 374-379.

P.A. Bernard, L. Ludbrook, G. Queipo, M.-B. Dinulos, Y.-H. Zhang, J.K. Phelan, E.R.B. McCabe, V. Harley, and E. Vilain, A familial missense mutationin the hinge region of DAX1 associated with late-onset AHC in a prepubertal female, Molecular Genetics and Metabolism, 2006, 88, 272-279.

Zhang, Y. H. Huang, B. L. Jialal, I. Northrup, H. McCabe, E. R. Dipple, K. M. , Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA, Pediatr Res, 2006, 59 (4 Pt 1), 590-2.

U. Bhardwaj, Y.-H. Zhang, Z. Rangwala, and E.R. McCabe, Completely self-contained cell culture system, Molecular Genetics and Metabolism, 2006, 89, 168-173.

McCabe, L. L. McCabe, E. R. , Complexity in genetic diseases: how patients inform the science by ignoring the dogma, Am J Med Genet A, 2006, 140 (2), 160-1.

J.A. Martinez-Agosto and E.R. McCabe, Conserved family of glycerol kinase loci in Drosophila melanogastor, Molecular Genetics and Metabolism, 2006, 88, 334-345.

A.K. Iyer, Y.-H. Zhang, and E.R. McCabe, DAX1(NR0B1) and SHP (NR0B2) form homodiimers individually as well as DAX1-SHP heterodimers, Molecular Endocrinology, 2006, 20, 2326-2342.

Kosuga, M. MacLennan, N. K. Zhang, Y. H. Grompe, M. McCabe, E. R. B. , Generation of a chimeric mouse lacking glycerol kinase in the liver: Understanding the pathogenesis of glycerol kinase deficiency, Journal of Inherited Metabolic Disease, 2006, 29, 63-63.

S.A. McGhee and E.R. McCabe, Genome-wide testing: Genomic medicine, Pediatric Research, 2006, 60, 243-244.

Hutz, J. E. Krause, A. S. Achermann, J. C. Vilain, E. Tauber, M. Lecointre, C. McCabe, E. R. Hammer, G. D. Keegan, C. E. , IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene, Mol Genet Metab, 2006, 88 (1), 66-70.

McCabe, E. R. B. , Inborn errors of metabolism: Past, present and future, Journal of Inherited Metabolic Disease, 2006, 29, 2-2.

Y.-H. Zhang, B.-L. Huang, K. Eastman, L.L. McCabe, N.K. MacLennan, and E.R. McCabe, Mouth cell collection device for newborn mice., Molecular Genetics and Metabolism, 2006, 89, 164-167.

T.B. Moore and E.R. McCabe, National collaborative study groups., Genetic Medicine, 2006, 8, 793-796.

K.K. Niakan, E.C. Davis, R.C. Clipsham, M. Jiang, D.B. Dehart, K.K. Sulik, and E.R.B. McCabe, Novel role for the orphan nuclear receptor Dax1 in embryogenesis, different from steroidogenesis, Molecular Genetics and Metabolism, 2006, 88, 261-271.

Y. Chu, B.M. Wu, E.R. McCabe and J.C. Dunn, Serum-free cultures of murine adrenal cortical cells, Journal of Pediatric Surgery, 2006, 41, 2008-2012.

MacLennan, N. K. Rahib, L. Shin, C. Fang, Z. Horvath, S. Dean, J. Liao, J. C. McCabe, E. R. Dipple, K. M. , Targeted disruption of glycerol kinase gene in mice: expression analysis in liver shows alterations in network partners related to glycerol kinase activity, Hum Mol Genet, 2006, 15 (3), 405-15.

Liao, J. C. Mastali, M. Gau, V. Suchard, M. A. Moller, A. K. Bruckner, D. A. Babbitt, J. T. Li, Y. Gornbein, J. Landaw, E. M. McCabe, E. R. Churchill, B. M. Haake, D. A. , Use of electrochemical DNA biosensors for rapid molecular identification of uropathogens in clinical urine specimens, J Clin Microbiol, 2006, 44 (2), 561-70.

Davis, E. C. Niakan, K. K. McCabe, E. R. B. , Expression of Dax1, and its network partners steroidogenic factor 1 and Wilms tumor 1, in the early murine embryo, Journal of Investigative Medicine, 2005, 53 (1), 461.

Kuwada, N. Nagano, K. MacLennan, N. Havens, J. Kumar, M. Dipple, K. M. McCabe, E. R. , Gene therapy for murine glycerol kinase deficiency: importance of murine ortholog, Biochem Biophys Res Commun, 2005, 335 (1), 247-55.

Ohira, R. H. Dipple, K. M. Zhang, Y. H. McCabe, E. R. , Human and murine glycerol kinase: influence of exon 18 alternative splicing on function, Biochem Biophys Res Commun, 2005, 331 (1), 239-46.

Bhardwaj, U. Zhang, Y. H. Lorey, F. McCabe, L. L. McCabe, E. R. , Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations, Am J Hematol, 2005, 78 (4), 249-55.

Bhardwaj, U. McCabe, E. R. , Multiplex-PCR assay for the deletions causing hereditary persistence of fetal hemoglobin, Mol Diagn, 2005, 9 (3), 151-6.

McGhee, S. A. Stiehm, E. R. McCabe, E. R. , Potential costs and benefits of newborn screening for severe combined immunodeficiency, J Pediatr, 2005, 147 (5), 603-8.

Sun, C. P. Liao, J. C. Zhang, Y. H. Gau, V. Mastali, M. Babbitt, J. T. Grundfest, W. S. Churchill, B. M. McCabe, E. R. Haake, D. A. , Rapid, species-specific detection of uropathogen 16S rDNA and rRNA at ambient temperature by dot-blot hybridization and an electrochemical sensor array, Mol Genet Metab, 2005, 84 (1), 90-9.

Sriram, G. Martinez, J. A. McCabe, E. R. Liao, J. C. Dipple, K. M. , Single-gene disorders: what role could moonlighting enzymes play?, Am J Hum Genet, 2005, 76 (6), 911-24.

McGhee, S. A. Stiehm, E. R. Cowan, M. Krogstad, P. McCabe, E. R. , Two-tiered universal newborn screening strategy for severe combined immunodeficiency, Mol Genet Metab, 2005, 86 (4), 427-30.

Morton, D. Bhardwaj, U. McCabe, E. R. B. , Viability of isolated single mammalian cells after cryopreservation, Journal of Investigative Medicine, 2005, 53 (1), 35.

Dunn, J. C. Chu, Y. Lam, M. M. Wu, B. M. Atkinson, J. B. McCabe, E. R. , Adrenal cortical cell transplantation, J Pediatr Surg, 2004, 39 (12), 1856-8.

McCabe, L. L. McCabe, E. R. , Direct-to-consumer genetic testing: access and marketing, Genet Med, 2004, 6 (1), 58-9.

McCabe, L. L. McCabe, E. R. , Genetic screening: carriers and affected individuals, Annu Rev Genomics Hum Genet, 2004, 5, 57-69.

Zhang, Y. H. Huang, B. L. Niakan, K. K. McCabe, L. L. McCabe, E. R. Dipple, K. M. , IL1RAPL1 is associated with mental retardation in patients with complex glycerol kinase deficiency who have deletions extending telomeric of DAX1, Hum Mutat, 2004, 24 (3), 273.

Iyer, A. K. McCabe, E. R. , Molecular mechanisms of DAX1 action, Mol Genet Metab, 2004, 83 (1-2), 60-73.

Ho, J. Zhang, Y. H. Huang, B. L. McCabe, E. R. , NR0B1A: an alternatively spliced form of NR0B1, Mol Genet Metab, 2004, 83 (4), 330-6.

Clipsham, R. Niakan, K. McCabe, E. R. , Nr0b1 and its network partners are expressed early in murine embryos prior to steroidogenic axis organogenesis, Gene Expr Patterns, 2004, 4 (1), 3-14.

Truong, C. Lam, M. McCabe, E. R. B. Dunn, J. , Adrenal cortical regeneration: Murine models for tissue engineering, American Journal of Human Genetics , 2003, 73 (5), 622-622.

Zhao, Y. Liu, N. Phelan, J. K. Yang, Z. Lin, S. McCabe, E. R. B. , Analysis of hypothalamic-pituitary-adrenal axis development in zebrafish, American Journal of Human Genetics, 2003, 73 (5), 327-327.

Stepanian, S. V. Huyn, S. T. McCabe, E. R. Dipple, K. M. , Characterization of the human glycerol kinase promoter: identification of a functional HNF-4alpha binding site and evidence for transcriptional activation, Mol Genet Metab, 2003, 80 (4), 412-8.

Patel, M. Sinsheimer, J. S. McCabe, E. R. B. Arnold, A. P. , Compositional constraints on X chromosome and XY gene pairs suggest selection pressure on silent sites, American Journal of Human Genetics, 2003, 73 (5), 431-431.

Clipsham, R. McCabe, E. R. , DAX1 and its network partners: exploring complexity in development, Mol Genet Metab, 2003, 80 (1-2), 81-120.

Bhardwaj, U. Zhang, Y. H. Jackson, D. S. Buchanan, G. R. Therrell, B. L., Jr. McCabe, L. L. McCabe, E. R. , DNA diagnosis confirms hemoglobin deletion in newborn screen follow-up, J Pediatr, 2003, 142 (3), 346-8.

M.A. Suchard, R.E. Weiss, J.S. Sinsheimer, K.S. Dorman, M. Patel, and E.R.B. McCabe, Evolutionary similarity among genes. , Journal of the American Statistical Association, 2003, 98, 653-662.

Dipple, K. M. Zhang, Y. H. Huang, B. L. McCabe, E. R. B. , Glycerol kinase (GK) splice site mutations associated with nonsense-mediated decay of mutant RNAs and asymptomatic isolated GK deficiency, American Journal of Human Genetics, 2003, 73 (5), 458-458.

Dipple, K. M. Stepanian, S. V. Huyn, S. T. McCabe, E. R. B. , HNF4 binds the human glycerol kinase promoter and activates transcription of glycerol kinase (GK), Journal of Inherited Metabolic Disease, 2003, 26 (Supplement 2), 187.

Bhardwaj, U. Zhang, Y. H. McCabe, E. R. , Neonatal hemoglobinopathy screening: molecular genetic technologies, Mol Genet Metab, 2003, 80 (1-2), 129-37.

Bhardwaj, U. Zhang, Y. H. Lorey, F. McCabe, L. L. McCabe, E. R. B. , Newborn screening for beta-thalassemia: molecular genetic confirmatory testing by multiplex-ARMS, American Journal of Human Genetics , 2003, 73 (5), 410-410.

Martinez, J. A. McCabe, E. R. B. , Phenotypic characterization of glycerol kinase loci in Drosophila melanogaster, American Journal of Human Genetics, 2003, 73 (5), 459.

Khoury, M. J. McCabe, L. L. McCabe, E. R. , Population screening in the age of genomic medicine, N Engl J Med, 2003, 348 (1), 50-8.

Kuwada, N. Nagano, K. Kumar, M. Dipple, K. M. McCabe, E. R. B. , Recombinant adenovirus mediates human glycerol kinase expression in glycerol kinase knock-out mice, American Journal of Human Genetics, 2003, 73 (5), 626-626.

Bowling, B. D. Wilson, J. J. Bernard, P. Dinulos, M. B. Phelan, J. McCabe, E. B. Vilain, E. , Dose-dependent shift from repressor to activator in a DAX-1 variant from a female with adrenal hypoplasia congenita, American Journal of Human Genetics, 2002, 71 (4), 327-327.

McCabe, E. R. , Editorial: Vulnerability within a robust complex system-DAX-1 mutations and steroidogenic axis development, J Clin Endocrinol Metab, 2002, 87 (1), 41-3.

Clipsham, R. Zhang, Y. H. Huang, B. L. McCabe, E. R. , Genetic network identification by high density, multiplexed reversed transcriptional (HD-MRT) analysis in steroidogenic axis model cell lines, Mol Genet Metab, 2002, 77 (1-2), 159-78.

McCabe, E. R. , Hirschsprung's disease: dissecting complexity in a pathogenetic network, Lancet, 2002, 359 (9313), 1169-70.

Ohira, R. Zhang, Y. H. Guo, W. Dipple, K. Shih, S. L. Doerr, J. Huang, B. L. Fu, L. J. Abu-Khalil, A. Geschwind, D. McCabe, E. R. , Human ARX gene: genomic characterization and expression, Mol Genet Metab, 2002, 77 (1-2), 179-88.

Ohira, R. H. Dipple, K. M. McCabe, E. R. B. , Human glycerol kinase (GK): Tissue-specific expression patterns of two alternatively spliced mRNAs from the Xp2l GK gene, American Journal of Human Genetics, 2002, 71 (4), 331-331.

Lewis, M. H. McCabe, L. McCabe, E. R. B. , Informed decision-making in newborn screening: Highly variable regulatory language, American Journal of Human Genetics, 2002, 71 (4), 378-378.

Ching, S. Dewing, P. McCabe, E. R. B. Vilain, E. , Isolating new genes of adrenal development, American Journal of Human Genetics, 2002, 71 (4), 314-314.

McCabe, E. R. , Molecular genetics of adrenal hypoplasia congenita, Endocr Res, 2002, 28 (4), 609.

McCabe, L. L. McCabe, E. R. , Newborn screening as a model for population screening, Mol Genet Metab, 2002, 75 (4), 299-307.

McCabe, L. L. Therrell, B. L., Jr. McCabe, E. R. , Newborn screening: rationale for a comprehensive, fully integrated public health system, Mol Genet Metab, 2002, 77 (4), 267-73.

Bhardwaj, U. Zhang, Y. H. Blackburn, W. McCabe, L. L. McCabe, E. R. , Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens, Am J Hematol, 2002, 71 (1), 56-8.

McCabe, E. R. , Translational genomics in medical genetics, Genet Med, 2002, 4 (6), 468-71.