RebeccaMardachMDM.D.

Medical Genetics • San Diego, CA

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Associate Professor Pediatrics/Medical Genetics

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Office
3030 Childrens Way
San Diego, CA 92123
Phone+1 619-543-7800

Fax+1 858-966-7942

Education & Training

UCLA David Geffen School of Medicine/UCLA Medical CenterFellowship, Medical Biochemical Genetics, 1990 - 1992
UCLA David Geffen School of Medicine/UCLA Medical CenterFellowship, Medical Biochemical Genetics, 1988 - 1990
Icahn School of Medicine at Mount SinaiResidency, Pediatrics, 1985 - 1988
Pontifical Xavierian UniversityClass of 1980

Certifications & Licensure

CA State Medical License 1988 - 2026
American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Medical Genetics and GenomicsClinical Biochemical Genetics

Awards, Honors, & Recognition

Profesor Internacional Universidad CES, Medellin, Colombia, 2017

Clinical Trials

Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Start of enrollment: 2007 Jul 25
Completed
Phase 2, Phase 3
Treatment Protocol of Replagal for Patients With Fabry Disease
No longer available

Publications & Presentations

PubMed

1 citations
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.
Stephen F Kingsmore, Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis
American Journal of Human Genetics. 2024-12-05
1 citations
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.
Stephen F Kingsmore, Meredith Wright, Laurie D Smith, Yupu Liang, William R Mowrey
American Journal of Human Genetics. 2024-12-05
1 citations
Response to Grosse et al.
Stephen F Kingsmore, Laurie D Smith, Chris M Kunard, Matthew Bainbridge, Sergey Batalov
American Journal of Human Genetics. 2023-06-01

Other Languages

Spanish, French