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Miriam  Blitzer

Miriam Blitzer Ph.D.

Academic Title: Professor
Primary Appointment: Pediatrics
Secondary Appointments: Biochemistry and Molecular Biology, Obstetrics, Gynecology and Reproductive Sciences
Administrative Title: Division Head, Human Genetics
Location: BRB 7-039
Phone: (410) 706-4065
Fax: (410) 706-6105

Personal History:

Miriam G. Blitzer, Ph.D., is Professor and Head of the Division of Human Genetics in the Department of Pediatrics at the University of Maryland School of Medicine (UMSOM), with secondary appointments in the Departments of Obstetrics, Gynecology & Reproductive Medicine, and Biochemistry & Molecular Biology. After earning a BA in chemistry at University of California, Irvine, she received her Ph.D. in human genetics from the University of Pittsburgh and was a postdoctoral fellow in clinical biochemical genetics and medical genetics at Tulane University School of Medicine. Dr. Blitzer is board-certified in clinical biochemical genetics and PhD medical genetics. In 1986 she joined the faculty at UMSOM. Currently she is co-director of the Biochemical Genetics Laboratory and director of the Maternal Serum Prenatal Screening Laboratory. She has been an author on 49 publications and 95 abstracts.

Dr. Blitzer has been involved medical genetics education at all levels, including medical professionals, graduate students, dental and medical students, as well and residents and fellows. She coordinates the medical genetics curriculum for first year medical students at the SOM. She served on the American Association of Medical Colleges Expert Panel that developed the "Medical School Objective Project" in Genetics Education for medical school curriculum that was published in 2005. In 2008, she was elected as Inaugural awardee/member, Carolyn J Pass, MD '66 and Richard J. Susel '66 Academy of Education Excellence, at the School of Medicine, for excellence in medical school education.

Nationally, Dr. Blitzer has served on boards of the American Board of Medical Genetics (1996-2001), the American Society of Human Genetics (2006-2009) and the National Coalition for Health Professional Education in Genetics (2002-2006). In 2011, she was elected to the Board of Directors of the American Board of Medical Specialties.

Currently she is the Executive Director of the American Board of Medical Genetics and is serving as President of the Association of Professors of Human and Medical Genetics (APHMG).

Research Interests:

Biochemical and metabolic genetic disorders


Selected Publications

Reissner K, Tayebi N, Stubblefield, Blitzer MG, Holleran W, Cowan T, Almashanu S, Maddalena A, Karson EM, and Sidransky E: Type 2 Gaucher disease with hydrops fetalis in an Ashkenazi Jewish family resulting from a novel recombinant allele and a rare splice junction mutation in the glucocerebrosidase locus. Molecular Genetics and Metabolism 63:281-288, 1998.

Friedman JM, Blitzer M, Elsas LJ, Francke U, and Willard HF (Clinical Objectives Task Force): Clinical objectives in medical genetics for undergraduate medical students. Genet Med 1:54-55, 1998.

Saller DN, Canick JA, Blitzer MG, Palomaki GE, Schwartz S, Blakemore KJ, and Haddow JE. Second trimester maternal serum analyte levels associated with fetal trisomy 13. Prenat Diagn 19:813-816, 1999.

Wolf B, Jensen K, Barshop B, Blitzer M, Carlson M, Goudie DR, Gokcay GH, Demirkol M, Baykal T, Demir F, Quary S, Shih LY, Pedro HF, Chen TH, and Slonim AE. Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Human Mutation 25:413, 2005.

Cooksey JA, Forte G, Benkendorf J, Blitzer MG: The state of the medical geneticist workforce: Findings of the 2003 survey of ABMG certified geneticists. Genet Med 7(6):439-443, 2005.

Lea DH, Williams JK, Cooksey JA, Flanagan PA, Forte G, Blitzer MG: US genetics nurses in advanced practice. J Nursing Scholarship 38(3):213-218. 2006.

Cooksey,JA, Forte G, Flanagan P, Benkendorf J, Blitzer MG: The Medical Genetics Workforce: An Analysis of Clinical Geneticist Subgroups. Genet Med 8(10): 603-614, 2006.

Baschat AA, Kasdaglis T,Aberdeen G, Turan,O, Kopelman J, Atlas R, Jenkins C, Blitzer M, Harman C: First trimester angiopoietin 2: relationships with maternal and placental characteristics. Am J Perinatol, 27:9-14. Epub 2009.

Baschat AA, Kasdaglis T, Aberdeen G, Turan,O, Kopelman J, Atlas R, Jenkins C, Blitzer M, Harman C: Serum pentraxin-3 levels at 11-14 weeksâ?T gestation: association with maternal and placental characteristics. Am J Obstet Gynecol 201: 298.e1-6, Epub 2009.

Kasdaglis T, Aberdeen G, Turan O, Kopelman J, Atlas R, Jenkins C, Blitzer M, Harman C, Baschat AA. Placental growth factor in the first trimester: relationship with maternal factors and placental Doppler studies. Ultrasound Obstet Gynecol 35:280-285, 2010.

Cowan TM, Blitzer, MG, Wolf B (A Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee): Technical standards and guidelines for the diagnosis of biotinidase deficiency. Genetics in Medicine 12:464-470, 2010.

Pindolia K, Jordan M, Guo C, Matthews N, Mock DM, Strovel E, Blitzer M, Wolf B: Development and characterization of a mouse with profound biotinidase deficiency: A biotin-responsive neurocutaneous disorder. Mol Genet Metab. doi:10.1016/j.ymgme. 2010.10.005, 2010.