Rebecca Mardach, M.D.

Rebecca Mardach, M.D.

Specialties

Clinical Genetics

Clinical Biochemical Genetics

Pediatrics

Title

  • Associate Clinical Professor
To see if Rebecca Mardach is accepting new patients, or for assistance finding a UC Davis doctor, please call 800-2-UCDAVIS (800-282-3284).

UC Davis MIND Institute

2825 50th St.
Sacramento, CA 95817
Driving Directions

Primary Phone:

Additional Phone Numbers

Fax: 916-703-0350
Clinic Phone: 916-703-0300
Physician Referrals: 800-4-UCDAVIS (800-482-3284)

Clinical Interests

Dr. Mardach main clinical interests are the application of medical genomics to cancer assessment and treatment and the diagnosis of genetic disorders causing neurodevelopmental dysfunction.   

Division

Genomic Medicine

Center/Program Affiliation

UC Davis Children's Hospital

Education

M.D., Javeriana University Medical School, Bogota, Columbia 1980

Residency

Pediatrics, St. Lukes-Roosevelt Hospital, Columbia University, New York NY 1986-1988

Fellowships

Clinical Genetics, David Geffen School of Medicine at UCLA, Los Angeles CA 1988-1990

Clinical Biochemical Genetics, David Geffen School of Medicine at UCLA, Los Angeles CA 1990-1992

Board Certifications

American Board of Medical Genetics - Biochemical Genetics,

American Board of Medical Genetics - Clinical Genetics (M.D.),

Professional Memberships

American Society of Human Genetics

Colombian Consortium for the Advancement of Children Health (COACH)

Society for Inherited Metabolic Disorders

Select Recent Publications

Reddy, KS, Mardach, R, Bass, H. Oligoarray. (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32. Cytogenet Genome Res. 2010;132: 113-20.

Zhang S, Li, FY, Bass HN, Pursley A, Schmitt ES, Brown BL, Brundage EK, Mardach R, Wong LJ. Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion. Mol Genet Metab. 2010;99(1):  53-57.

Pancrudo, J, Shanske, S, Coku, J, Lu, J, Mardach, R, Akman, O, Krishna, S, Bonilla, E, DiMauro, S. Mitochondrial myopathy associated with a novel mutation in mtDNA. Neuromuscul Disord. 2007;17: 651-654.

Camacho JA, Mardach, R, Rioseco-Machado, N, Ruiz-Pesini, E, Derveneba, O, Andrade, D, Zaldivar, F, Qu, J, and Cederbaum, SD. Clinical and functional characterization of a Human ORNT1Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome. Pediatric Research. 2006;60: 423-429.

Mardach, R, Verity, MA, and Cederbaum, SD. Clinical, pathological, and biochemical studies in a patient with Propionic Acidemia and Fatal Cardiomyopathy. Mol Genetics and Metabolism. 2005;85: 286-29.

Lee-Jun W, Wladyka, C, Mardach-Verdon, R. A Mitochondrial DNA mutation in a patient with an extensive family history of Duchenne Muscular Dystrophy. Muscle Nerve. 2004;30:  118-122.

Mardach, R, Zempleni, J, Wolf, B, Cress, S, Boylan, J, Roth, S, Cederbaum, SD, and Mock, D. Biotin dependency due to a defect in biotin transport. J clin invest. 2002;109: 1617-1623.

Mardach, R, Roe, K, and Cederbaum, SD. Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency. J Inherited Metab Dis. 1998;22: 102-106.

Pomponio, R J, Hymes, J, Pandya, A, Landa, B, Melone, P, Javaheri, R, Mardach, R, Morton, SW, Meyers, GA, Reynolds, T, Buck, G, Nance, WE, Wolf, B. Prenatal diagnosis of heterozygosity for biotinidase deficiency by enzymatic and molecular analyses, Prenat Diagn. 1998;2: 117-122.

Roe, CR, Cederbaum, SD, Roe, DS, Mardach, R, Galindo, A, and Sweetman, L. Isolated isobutyryl CoA Dehydrogenase Deficiency: an Unrecognized Defect in Human Valine Metabolism. Mol Genet and Metab. 1998;65: 264-271.