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In This Section
Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.
Dr. Spinner works to identify and understand the genes causing pediatric developmental disease. She has merged her efforts as a clinical laboratory director involved in the diagnosis of cytogenetic, cytogenomic, and genomic disorders with research into the underlying mechanisms of genetic disease.
With her colleagues, Dr. Spinner has studied the autosomal dominant, multi-system disorder Alagille Syndrome since the early 1990s, identifying both Jagged1 and NOTCH2 as disease genes. The team then expanded the phenotype of this variably expressed disorder, analyzed the effect of missense mutations on gene function, and investigated factors that modify the expressivity, notably identifying Thrombospondin 2 as a modifier of liver disease severity in Alagille patients with a JAG1 mutation.
Dr. Spinner's research has also focused the potential genetic contribution to the disorder biliary atresia. She has looked for genetic susceptibility factors via genome-wide association studies and identified several candidate genes and genomic regions, and hypothesized that there is a genetic susceptibility requiring an environmental insult to cause the disease and we have taken several approaches to identify the putative genetic susceptibility factors. She has also worked to expand the understanding of several chromosome abnormalities, including chromosomal mosaicism in general as well as ring chromosomes 14 and 20, two rare chromosome abnormalities associated with seizure disorders. Her current focus is on the continued improvement of genomic diagnostics to better understand unsolved pediatric disorders, and how this information improves the lives of affected individuals.
Dr. Spinner's notable career achievements include:
• Identification of JAG1 and NOTCH2 as cause of Alagille syndrome
• Recognition of the importance of intracranial vascular anomalies in mortality of Alagille patients
• Utility of chromosomal microarray as a first-tier diagnostic test in patients with developmental disabilities
• Utility of chromosomal microarrays to understand chromosomal mosaicism
• Understanding the implications of genetic testing
Education and Training
BA, Brandeis University (Anthropology), 1975
PhD, University of California, Berkeley (Genetics), 1984
Fellowship, Children's Hospital of Philadelphia (Human Genetics), 1986
Titles and Academic Titles
Chief, Division of Genomic Diagnostics
Evelyn Willing Bromley Endowed Chair in Pathology and Clinical Laboratories
Professor of Pathology and Laboratory Medicine
Alagille Syndrome Alliance
American College of Medical Genetics (Founding Fellow)
American Society of Human Genetics
Dean's Award for Excellence in Basic Science Teaching, University of Pennsylvania School of Medicine, 1997
Klaus and Mary Hummeler Endowed Research Prize, 1999
Ethel Brown Foerderer Fund Fellow, 2002
John Morgan Society, University of Pennsylvania School of Medicine, 2004
Faculty Mentor Award, The Children's Hospital of Philadelphia, 2009
Evelyn Willing Bromley Endowed Chair in Pediatric Pathology, 2011