This project evaluates the degree of genomic instability (measured by combine CGH-SNP microarray) relative to the number of MDS-associated mutations (measured by next-generation sequencing) among cytopenic patients that underwent non-diagnostic bone marrow evaluation for MDS (i.e. patient’s diagnosed with idiopathic cytopenias(s) of uncertain significance, or ICUS). Compare the relative sensitivity and specificity of each testing platform for identifying malignant clonal hematopoiesis.
Learn more about Measuring Genomic Stability in Cytopenic Patients
The overall goal of this project is to develop induced pluripotent stem cells (iPSCs) from human research subject peripheral blood mononuclear cells (PBMCs) in order to ultimately derive neurons from the iPSCs. Future work will involve transforming human subject iPSCs into neuronal cell lines for the purposes of studying the effect of epilepsy causing mutations on neuronal morphology, development, and behavior. The genomic integrity of iPSCs after reprogramming must then be confirmed using chromosomal microarray and karyotype.
Learn more about Genomic Characterization of Induced Pluripotent Stem Cells from PBMCs in Brain Development Disorders
The interrelationship between chromosomal rearrangements or deletions with the consequences of a pathological condition is a very complex. Non-coding DNA sequences are highly conserved and play an important role in gene regulation. These have been shown to act as positive or negative enhancers in experimental models. Recently, genomic alterations in the enhancer structures (deletions/duplications) have been found to be responsible for developmental disorders.
Learn more about Role of Abnormal Copy-Number Variations, Enhancer Sequences in Genetic Diseases
The proposed study is to facilitate the identification of copy number variations (CNVs), not previously defined as pathological, that are commonly associated with pathogenesis of a specific disease or disease-related phenotype.
Learn more about Retrospective Analysis of DNA Array Data for the Identification of Novel DNA Variants Associated with Pediatric Congenital Lung and Heart Disease