The Biomolecular Core Lab (BCL) provides essential services in molecular biology and genetics to the clinical and research staff at Nemours, Delaware Institutional Development Award/IDeA Networks of Biomedical Research Excellence (INBRE) partner institutions, and external clients.
Under the direction of Katia Sol-Church, PhD, the lab provides consultation on experimental design as well as data troubleshooting, training, and mentoring of students and clinical fellows.
Research in the BCL is focused on identifying the genetic basis and understanding of the molecular mechanisms underlying complex disorders. Dr. Sol-Church's interest is primarily in disorders associated with skeletal dysplasia and cancer. Our main focus is to understand the effect of mutations in children with Costello syndrome (CS), a disorder that affects multiple organ systems and is characterized by short stature, intellectual disability, redundant loose skin, papillomata, and predisposition for heart defect and cancer (rhabdomyosarcoma). Our goal is to identify genomic factors/modifiers, outside of the well-characterized mutation, that may influence expressivity of the disease. We also study how changes in gene expression impact the signaling cascade and correlate with the patient's recorded clinical history and determine whether prognostic tools can be derived to predict disease course in new patients.
Our findings will provide a better understanding of the disease pathology and perhaps allow new therapeutic avenues. The ultimate goal is to provide clinicians with tools that can help improve pediatric supportive care and/or therapeutic intervention.
Current Research Group
Katia Sol-Church, PhD, Director
Jennifer Holbrook, BS, Assistant Director
Deborah Stabley, BS, Senior Research Assistant
Ellen Hitchens, Research Technician 1
Kate Robbins, UD PhD graduate student
Rebecca Sahraoui, UD MS graduate student
Services & Equipment
Operating under strict HIPAA regulations, we are a CLIA-certified site. Our service core unit currently supports the Nemours Molecular Diagnostic DNA sequencing and fragment analysis CLIA-certified tests. We also provide backup services to other cores in the Delaware Valley Network, including DNA sequencing coverage services for the University of Delaware DNA Sequencing and Genotyping Core.
Affymetrix microarray (global gene expression, Transcriptome, 3’IVT and WT assays)
Pathway-focused real-time qPCR (mRNA and miRNA)
Digital PCR (absolute/relative quantification)
Allelic discrimination probes (SNP real-time PCR)
Affymetrix microarray (CNV, CytoScan, SNP arrays)
Fragment analysis (capillary electrophoresis up to 1200 bp)