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Nancy B. Spinner, Ph.D.

Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia
Co-Chair, Genes, Genomes and Pediatric Disease Affinity Group
Scientific Advisory Board, Center for Molecular studies in Digestive and Liver Disease
Scientific Advisory Board, Penn Center for Integration of Genetic Healthcare Technologies
Chief, Division of Genomic Diagnostics, The Children's Hospital of Philadelphia
Department: Pathology and Laboratory Medicine

Contact information
716B Abramson Research Center
The Children's Hospital of Philadelphia
3615 Civic Center Blvd.
Philadelphia, PA 19104-4318
Office: 215-590-4177
Fax: 215-590-2156
Lab: 215-590-3316
Education:
B.A. (Anthropology)
Brandeis University, 1975.
Ph.D. (Genetics)
University of California at Berkeley/San Diego State, 1984.
Post-Graduate Training
Fellow in Genetics, The Children's Hospital of Philadelphia, 1984-1986.
Certifications
American Board of Medical Genetics Ph.D. Medical Genetics Clinical Cytogenetics, 1987.
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Description of Research Expertise

Research Interests
Human Genetics, Notch signaling in human disease, Alagille syndrome, Biliary Atresia, SNP array analysis, copy number variation, human disease gene identification by mapping deletions, Ring Chromosome 14, Ring Chromosome 20, Genome wide association studies, next-generation sequencing, chromosomal analysis,

Key words: JAG1, NOTCH2, Notch Signaling Pathway, Alagille syndrome, Biliary Atresia, Ring Chromosomes, Ring Chromosome 14, Ring Chromosome 20, Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Bioinformatics, Induced pluripotent stem cells

Description of Research
Our lab is interested in identifying genes that contribute to congenital disease. We have a long-standing interest in Alagille syndrome, a genetic disorder that affects the heart and liver. We have demonstrated that this disorder is caused by two genes in the Notch Signaling Pathway, and have continued to study the effect of these mutations, seeking to understand the clinical spectrum of defects in these disorders. Currently, we are looking to identify the genetic factors that modify the clinical variation present in this disease.

In addition to our work on Alagille syndrome, we are funded to investigate the genetic susceptibility to Biliary Atresia (BA). Various research efforts are underway, including GWAS and whole exome sequencing of individuals and trios. Using these techniques, we are exploring several genes that may contribute to the etiology of BA.

We are working on understanding the molecular basis of the clinical features observed in patients with Ring Chromosome 14 Syndrome and Ring Chromosome 20 Syndrome. To achieve this goal, we are exploring a number of different research strategies, including iPS cell work. By characterizing the rings, we hope to identify the mechanism by which ring chromosomes lead to human disease and the characteristic seizure phenotype.

In colloboation with Dr. Ian Krantz, we lead a program project grant to test the applications of whole exome sequencing to 5 pediatric disorders, as well as to explore the ethical and psychosocial implications of this work.

Lab Personnel:
Debbie McEldrew - Research Associate
Jason Mills, Ph.D. – Research Associate
Christopher Grochowski – Senior Research Technician
Ramakrishnan Rajagopalan – Bioinformatics Specialist
Alexandra Falsey – Clinical Research Coordinator

Selected Publications

Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H.: High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications. Genome Research 19(9): 1682-90, July 2009.

DeScipio C, Spinner NB, Kaur M, Yaeger D, Ambrosini, A, Hu S, Shan S, Conlin LK, Krantz ID, Riethman, H: Fine-Mapping Subtelomeric Deletions and Duplications by Comparative Genomic Hybridization in 42 Individuals. Am J Med Genet A. 146: 730-739, 2008.

Venditti, CP, Hunt P, Donnenfeld A, Zackai E and Spinner NB : Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet 124A: 274-279, 2004.

Spinner, N.B. : Alagille syndrome and the Notch Signaling Pathway; New Insights into Human Development. Gastroenterology 116: 1257-60, 1999 Notes: Invited Editorial.

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Last updated: 11/07/2014
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