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,
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.
Debbie McEldrew - Research Associate
Jason Mills, Ph.D. – Research Associate
Christopher Grochowski – Senior Research Technician
Ramakrishnan Rajagopalan – Bioinformatics Specialist
Alexandra Falsey – Clinical Research Coordinator
CytoGenomic Diagnostics, copy number variation, cytogenetics
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Last updated: 01/04/2018
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