Faculty Biography

Hope Northrup, MD

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Education:

B.S.: Biology, College of Charleston, Charleston, South Carolina

M.D.: Medical University of South Carolina, Charleston, South Carolina

Residency: Pediatrics, Southwestern Medical School, Dallas, Texas

Fellowship: Genetics, Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas

Clinical and Research Interests:

1. Tuberous Sclerosis Complex (TSC)
2. Spina Bifida Cystica
3. Research in my laboratory focuses on two disorders: tuberous sclerosis complex (TSC) and spina bifida cystica. TSC is inherited in an autosomal dominant fashion with two known genes on chromosome 9q34.3 (TSC1) and on chromosome 16p13.3 (TSC2) for the TSC phenotype. Current work underway includes mutational analysis and functional studies of both genes. The spina bifida project is using a candidate gene approach to search for genetic associations.
4. A tutorial in my laboratory will expose the student to common molecular genetic techniques including subcloning, DNA sequencing, Southern blot analysis, single strand conformational polymorphic analysis, cell free transcription-translation, protein-protein interaction techniques, Western blotting and immunoprecipitation.

Publications (selected):

• Presentation: “Testing and Analysis of Folate Metabolism Candidate Genes for Association with Spina Bifida Meningomyelocele”. NTD 2005 and Beyond, Spectrum Neural Tube Defects Conference, Indian Wells, California, September 2005.
• Presentation: “BRCA1 Mutations Show Association with Lesion Location in Spina Bifida Patients”. NTD 2005 and Beyond, Spectrum Neural Tube Defects Conference, Indian Wells, California, September 2005.
• Poster: “Detection of cryptic chromosomal alterations by genome-wide array comparative genomic hybridization (array-CGH) with 21,600 BAC clones”. 55th Annual Meeting of the American Society of Human Genetics. Salt Lake City, Utah, October 2005.
• Poster: “Testing and analysis of folate metabolism candidate genes for association with spina bifida meningomyelocele”. 55th Annual Meeting of the American Society of Human Genetics. Salt Lake City, Utah, October 2005.
• Platform Presentation: “Further Delineation of Genotype-Phenotype Correlations in Tuberous Sclerosis Complex”. 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004.
• Poster Presentation: “Activation of Phospholipase D in Angiomyolipomas from Tuberous Sclerosis Complex (TSC) Patients”. 54th Annual Meeting of the American Society of Human Genetics. Toronto, Canada, October 2004.

Articles:

• Davidson CM, Northrup H, King TM, Fletcher JM, Townsend IT, Tyerman GH, Au KS. Genes in Glucose Metabolism and Association with Spina Bifida, Reproductive Sciences. January, 15(1):51-8, 2008.
• Au KS, Williams AT, Roach ES, Batchelor l, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung M-YC, Whittemore VH, King TM, Northrup H. Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States. Gen In Med, Feb;9(2):88-100, 2007.
• Kozlowski P, Roberts P, Dabora S, Franz D, Bissler J, Northrup H, Au KS, Lazarus R, Domanska- Pakiela D, Kotulska K, Jozwiak S, Kwiatkowski DJ. Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet. 2007 May; 121(3-4):389-400. Epub 2007 Feb 8.
• Lim SD, William Stallcup W, Lefkove B, Govindarajan B, Au KS, Northrup H, Lang D, Fisher DE, Patel A, Amin MB, and Arbiser JL. Expression of the Neural Stem Cell Markers NG2 and L1 in Human Angiomyolipoma: Are Angiomyolipomas Neoplasms of Stem Cells? Molecular Medicine March-April 2007.
• King TM, Au KS, Kirkpatrick TJ, Davidson C, Fletcher JM, Townsend I, Tyerman GH, Shimmin LC, Northrup H. The Impact of BRCA1 on Spina Bifida Meningomyelocele Lesions. Ann of Hum Genet. 2007 Nov; 71 (Pt 6):719-28. Epub 2007 Jul 19.
• Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP. Prevalance of disease-causing mutations in families with autosomal dominant retinitis pigmentosa (adRP): a screen of known genes in 200 families. Invest Ophthalmol Vis Sci, 2006 Jul;4(7):3052-64.
• Kaye CI; Committee on Genetics; Accurso F, La Franchi S, Lane PA, Northrup H, Schaefer GB. Introduction to the newborn screening fact sheets. Pediatrics Sep; 118(3):1304-12, 2006
• Woerner AC, Au KS, Williams AT, Harris PC, Northrup H: Tuberous sclerosis complex and polycystic kidney disease: an exception to the contiguous gene syndrome. Genet in Med 8(3):197-198, 2006.
• Zhang Y-H, Huang B-L, Jialal I, Northrup H, McCabe ERB, Dipple KM: Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense mediated decay or mutant RNAs. 2006 Apr;59(4 Pt 1):590-2.

Chapters:

• Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Maple Syrup Urine Disease (MSUD)(Branched Chain Ketoaciduria), 2006.
• Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Biotinidase Deficiency, 2006.
• Newborn Screening Fact Sheet for the American Academy of Pediatrics. H Northrup, Lead Author. Medium Chain Acyl-CoA-Dehydrogenase (MCAD), 2006.
• Au K-S, Northrup H: Genetics of neurocutaneous disorders. IN "Neurocutaneous Disorders". Cambridge University Press, In Press, 2004.
• Kirkpatrick TJ, Northrup H: Genetics of neural tube defects. IN "Encyclopedia of the Human Genome". In Press, 2003.
• Fletcher JM, Dennis M, Northrup H, Barnes MA, Hannay HJ, Landry S, Copeland K, Blaser SE, Kramer LA, Brandt ME, Francis DJ: Spina bifida: genes, brain and development. IN Glidden L (Ed.) “International Review of Research in Mental Retardation”. Academic Press, San Diego, CA, In Press, 2003.
• Fletcher JM, Dennis MF, Northrup H: Neuropsychology of early hydrocephalus: sources of variability in outcome domains. IN Yates KO, Ris MD, Taylor HG (Eds.) “Pediatric Neuropsychology: Research, Theory, and Practice”. Erlbaum, Hillsdale, NJ, 2000.
• Northrup H, Au K-S: Gene mapping: TSC1. IN Gomez MR (Ed.) “Tuberous Sclerosis”. Lippencott-Raven, 3rd Edition, 1997.
• Hebert AA, Northrup H: Inherited disorders of deposition (Gaucher’s, Hartnup). IN Arndt K, Leboit P, Robinson J, Wintroub B (Eds.) “Cutaneous Medicine and Surgery”. Boston: WB Saunders Co., Vol 2, pp 1766-1769, 1993.

 

Location & Contact

6431 Fannin Street
MSB 3.020
Houston, Texas 77030
713-500-5757 (Voice)

Faculty Biography

• Hope Northrup, MD
  Professor
• Department of Pediatrics
  Director, Division of Medical Genetics
• Graduate School of Biomedical Sciences Faculty, University of Texas Health Science Center
• Director, Residency/Fellowship Training Program in Medical Genetics
• Medical Director, Genetic Counseling Training Program
• Director, Medical Genetics Residency Training Program
• Member, Medical and Scientific Staff, Shriners Hospital for Children - Houston Unit
• Co-Director, Training Program in Molecular Genetic Pathology
• University of Texas-Houston Medical School
  6431 Fannin Street, MSB 3.144
  Houston, Texas 77030
• phone: (713) 500.5760
  fax: (713) 500-5689
  e-mail: Hope.Northrup@ uth.tmc.edu
• Administrative Assistant:
  Suzanne Paramore
  (713) 500-5760