Margaret M McGovern, PhD, MD
- ADJUNCT PROFESSOR | Genetics and Genomic Sciences
- ADJUNCT PROFESSOR | Pediatrics
- ADJUNCT PROFESSOR | Obstetrics, Gynecology and Reproductive Science
BS, State University of New York at Stony Brook
M Phil, City University of New York
Dr. McGovern is carrying out research in the lysosomal storage diseases, and Niemann Pick disease due to acid sphingomyelinase deficiency on particular. These studies are focused on the delineation of the natural history of the disease and the evaluation of new treatment for this disorder. The natural history studies have focused on a careful characterization of the disease phenotype in a cohort of patients enrolled in an IRB approved study. Patients are evaluated on the General Clinical research Center (GCRC) and undergo comprehensive clinical and clinical laboratory studies to determine the extent of disease involvement in the primary target organs.
To date these studies have: 1) documented the extent of pulmonary disease in affected patients, 2) revealed that retinal stigmata can occur even on the absence of progressive neurologic disease, 3) investigated the nature of the lipid abnormality in these patients which are characterized by low HDL-Cholesterol levels and increased risk for coronary artery disease, and 4) provided detailed information o the disease course in the fatal Type A form do the disease.
Results of a 10 year longitudinal study also have been reported and provide details related to progression of the pulmonary and hepatic disease. A study in children was carried out to examine in detail the abnormalities in growth that accompany the disorder. Most recently a retrospective natural history study has begun which is designed to collect even more detailed data related to disease progression.
Evaluation of enzyme replacement therapy for Niemann Pick disease is now being carried out under Dr. McGovern's direction in the GCRC. This Phase I trial will enroll fifteen subjects to assess safety of the therapy.
Wasserstein MP, Aron A, McGovern MM, Desnick RJ, Brodie S. Variant patients with acid sphingomyelinase deficiency. J Ped 2006; 149(4): 554-559.
Simonaro CM, Park H, Schuchman E, Shtraizent N, McGovern MM, Iiyahu E. Imprinting at the SMPD-1 Locus: Implications for Acid Sphingomyelinase deficient Niemann-Pick Disease. Am J Hum Genet 2006 May; 78(5): 865-870.
McGovern MM, Johnston M, Cohen D, Zinberg R, Brown K. Use of Standardized Patients in Undergraduate Medical Genetics Education. Teaching and Learning in Medicine 2006; 18(3): 203-207.
McGovern MM, Aron A, Wasserstein MP, Desnick RJ, Brodie S. The natural history of Niemann Pick disease Type A. Neurology 2006 Jan 24; 66(2): 228-232.
Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, McGovern MM, Skloot G, Vanier M, Bembi B, Giugliani R, Simpson W. Chest Radiographic Findings and Pulmonary Function in Niemann-Pick Disease Type B. Radiology 2006 January; 238(1): 339-345.
Brown K, McGovern MM, Zinberg RE, Hutchison R. Genetic Testing And Counseling In Early Onset Breast Cancer Survivors. Genet Testing 2005 Winter; 9(4): 301-305.
Wasserstein MP, Desnick RJ, Schuchman EH, McGovern MM, Wallenstein S, Lamm C, Hossain S. The Natural History of Type B Niemann-Pick Disease: Results from a 10-year longitudinal study. Pediatrics 2004 Dec; 114(6): e672-677.
McGovern MM, Pohl T, Deckelbaum R, Wasserstein MP, Mendelson D, Desnick RJ, Schuchman EH, Simpson W. Hyperlipidemia in Niemann Pick disease Types A and B. J Pediatr 2004 Jul; 145(1): 77-81.
McGovern MM, Wasserstein MP, Brodie SE, Desnick RJ, Schuchman EH, Aron A. Ocular manifestations of Niemann Pick disease Type B. Ophth 2004 July; 111(7): 1424-1427.
Pho LT, Zinberg RE, McGovern MM, Wallenstein S, Hopkins-Boomer TA. Attitudes and psychosocial adjustment of unaffected siblings of patients with phenylketonuria. Am J Med Genet 2004 April 15; 126A(2): 156-160.