Braverman, Nancy Elise, M.S., M.D.

Assistant Professor, Pediatrics
B.S., Cornell University, 1979
M.S., Sarah Lawrence College, 1981
M.D., Tulane University, 1987
Resident in Pediatrics, Yale-New Haven Hospital, 1990
Chief Resident in Pediatrics, Sinai Hospital of Baltimore, 1992
Fellow in Genetics, Johns Hopkins Medical Center, 1996

Main Interests: 

Peroxisome biogenesis disorders (PBD) result from failure of this organelle to assemble properly. Subsequent deficiencies of matrix enzymes cause a myriad of defects that affect the brain, eye and skeleton. Many of these enzymes are involved in complex lipid metabolism, highlighting the importance of biochemical pathways in the development of organ systems. The focus in my laboratory is to understand the pathophysiology of one of these disorders, Rhizomelic Chondrodysplasia Punctata (RCDP), particularly the effects on skeletal development. RCDP is caused by defects in PEX7, which encodes a receptor for a subset of peroxisomal matrix enzymes. My experimental approach includes molecular and functional analysis of the receptor in cell based systems and histochemical studies of the growth plate in animal models. These investigations will contribute towards our understanding of peroxisome biology and help to elucidate the metabolic milieu required for normal bone development. My clinical activities and interests are related to children with general genetic-metabolic diseases and skeletal dysplasias. I evaluate, diagnose, manage and follow these children on our Medical Genetics service. To encourage a more comprehensive analysis of phenotype in individuals with chondrodysplasia punctata, we are developing a protocol for their clinical evaluations. 

Research Interests:

• Chondrodysplasia punctata
• Peroxisome diseases
• Skeletal metabolism
• Molecular biology
• Pathophysiology

Clinical Activities:

• Board Certification: American Board of Medical Genetics, Clinical Genetics and Clinical Biochemical Genetics; American Board of Pediatrics
• Clinical Interests: genetic-metabolic disease, general genetics, peroxisome disorders, skeletal dysplasias, dysmorphology
• Clinic:

Medical Genetics Clinic Johns Hopkins Outpatient Center (JHOC)
8th floor, Pediatric Specialty Clinics area
601 North Caroline Street
Baltimore, MD 21205
Phone: 410-955-3071 Fax: 410-614-9246

Predoctoral Training Program in Human Genetics

Recognition and Leadership Roles:

• Alpha Omega Alpha, 1987
• American Medical Women's Association Achievement Citation, 1987
• Awards: Society for Inherited Metabolic Disease, Travel Award, 1996; Society for Pediatric Research, Fellow's Clinical Research Award, 1996; American Society of Human Genetics, Postdoctoral Clinical Research Award, 1996; and Passano Physician Scientist Award, 2000 Faculty award for teaching excellence, 2004
• Child Health Research Center (CHRC) Grant, 1997-1999
• Memberships: American Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism (Europe), and Society for Inherited Metabolic Disease (USA)

Publications:

• G. Dodt, N. Braverman, C. Wong, H. Moser, D. Valle, S.J. Gould: Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders. Nat. Genet. 9:115-124, 1995.  Abstract
  
  
• Braverman N, Dodt G, Gould SJ, Valle D: Disorders of peroxisome biogenesis. Hum Molec Genet 4 :1791-1798, 1995. Abstract
  
  
• Dodt G, Braverman N, Valle D, Gould SJ: From expressed sequence tags to peroxisome biogenesis disorder genes. Ann NY Acad Sci 804:516-523 , 1996. Abstract
  
  
• Yahraus T, Braverman N, Dodt G, Kalish J, Morrell J, Moser H, Valle D, Gould SJ: The peroxisome biogenesis disorder group 4 gene, PXAAA1, encodes a cytoplasmic ATPase required for the stability of the PTS1 receptor. EMBO 15:2914-2923 , 1996. Abstract
  
  
• Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D: Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet 15:369-375, 1997. Abstract
  
  
• Braverman N, Dodt G, Gould SJ, Valle D: An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.. Human Molecular Genetics 7(8):1195-1205 , 1999. Abstract
  
  
• Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox W, Rimoin D, Smith M, Kelley R, Valle D: Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nature Genetics, 22:291-294, 1999. Abstract
  
  
• Braverman N, Lin P, Obie C, Moser A, Moser H, Valle D: PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter. Genomics 63(2):181-192, 2000. Abstract
  
  
• Grange D, Kratz LE, Braverman N, Kelley R: CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Am J Med Genet 14;90(4):328-35, 2000. Abstract
  
  
• Braverman N, Moser A, Steinberg S: Rhizomelic Chondrodysplasia Punctata Type I. November In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org., 2001. Abstract
  

Contact Information:

Nancy Elise Braverman, M.S., M.D.

Johns Hopkins University School of Medicine McKusick-Nathans Institute of Genetic Medicine 733 N Broadway, BRB 413 Baltimore, MD 21205

Phone: (410) 614-6112
Fax: (410) 502-5677
E-Mail: nbraverm@jhmi.edu

Educational Activities:

• Preceptor, Medical Genetics Training Program
• Preceptor, Predoctoral Training Program in Human Genetics
• Mentor, Undergraduate Tutorial in Clinical and Molecular Genetics
• Links: