Nancy B. Spinner

Nancy B. Spinner, PhD is a Professor of Pathology and Laboratory Medicine at the Children's Hospital of Philadelphia (CHOP), which is affiliated with the University of Pennsylvania's Perelman School of Medicine. She holds graduate group affiliations in Cell and Molecular Biology and Genomics and Computational Biology. Her research program focuses on identifying genes that contribute to congenital diseases, with particular emphasis on Alagille syndrome, Biliary Atresia, and ring chromosome disorders. Dr. Spinner employs advanced genomic techniques including SNP array analysis, whole exome sequencing, and whole genome sequencing to investigate the genetic basis of these conditions.

Education:

• B.A. in Anthropology from Brandeis University (1975)
• Ph.D. in Genetics from University of California at Berkeley/San Diego State (1984)
• Post-Graduate Training as Fellow in Genetics at The Children's Hospital of Philadelphia (1984-1986)
• Certified by American Board of Medical Genetics in Medical Genetics and Clinical Cytogenetics (1987)

Dr. Spinner's research interests span multiple areas of human genetics with focus on Notch signaling pathway disorders. Her laboratory investigates the molecular mechanisms underlying Alagille syndrome, demonstrating that this disorder is caused by mutations in two genes within the Notch Signaling Pathway (JAG1 and NOTCH2). Her team also studies Biliary Atresia susceptibility through genome-wide association studies and whole exome sequencing, while investigating the molecular basis of Ring Chromosome 14 and 20 syndromes using various research strategies including induced pluripotent stem cell work. In collaboration with Dr. Ian Krantz, she leads a program project grant testing whole exome sequencing applications for pediatric disorders while exploring the ethical and psychosocial implications of genomic medicine.

Dr. Spinner's publication record spans over four decades, with significant contributions to understanding genetic mechanisms of congenital disorders. Her recent work focuses on comprehensive mutation analysis in Alagille syndrome, natural history studies of liver disease in affected children, and establishing genomic technologies as standard diagnostic tools. She has been instrumental in developing chromosomal microarray as a first-tier diagnostic test and advancing understanding of mosaicism in clinical genetics.

Research Team:

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