Biomolecular Core Lab

About the Biomolecular Core Lab

The Biomolecular Core Lab (BCL) provides essential services in molecular biology and genetics to the clinical and research staff at Nemours Children's, Delaware Institutional Development Award/IDeA Networks of Biomedical Research Excellence (INBRE) partner institutions and external clients.

Under the direction of Katherine M Robbins, PhD, the lab provides consultation on experimental design as well as data troubleshooting, training, and mentoring of students and clinical fellows.

The BCL is also a collaborative research laboratory focusing on the study of rare pediatric genetic disorders. Dr. Robbins’ interest is primarily associated with rasopathies, skeletal dysplasias and cancer. One focus of our research is to characterize embryonal rhabdomyosarcoma (ERMS) within our extensive Costello syndrome cohort at the molecular, cytogenetic and functional levels.

Another focus is to elucidate the signaling pathways regulating embryonal rhabdomyosarcoma in our cohort of patients. Costello syndrome is a disorder that affects multiple organ systems and is characterized by short stature, intellectual disability, redundant loose skin, papillomata, and predisposition for heart defects and cancer. Costello syndrome patients have a 15 percent lifetime risk for developing malignances. Furthering our understanding of ERMS will ultimately help us to identify better therapeutic treatment options for these patients. This work is a collaborative effort between Dr. Karen Gripp, MD, and the Biomolecular Core Laboratory.

Dr. Robbins’ research laboratory provides unique educational opportunities to summer students, undergraduates and graduate students at the University of Delaware and partner institutions.

The ultimate goal of this laboratory is to provide biomedical investigators with state-of-the-art technical support and clinicians with tools that can help improve pediatric supportive care and/or therapeutic intervention.

Current Research Group

• Katherine M Robbins, PhD, Director
  
• Jennifer Holbrook, BS, Assistant Director
• Deborah Stabley, BS, Senior Research Assistant

Services and 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.

Services

Expression Analysis:

• Affymetrix microarray (global gene expression, Transcriptome, 3’IVT and WT assays)
• Pathway-focused real-time qPCR (mRNA and miRNA)
• Digital PCR (absolute/relative quantification)

Genotyping/Variant Analysis:

• Allelic discrimination probes (SNP real-time PCR)
• Affymetrix microarray (CNV, CytoScan, SNP arrays)
• Fragment analysis (capillary electrophoresis up to 1200 bp)
• DNA sequencing (Sanger sequencing)
• Next Generation DNA Sequencing (Ion PGM)
• Digital PCR (CNV analysis)
• NGS Library Preparation (Amplicon libraries, fragmentation libraries)
• Human Cell Line Authentication and Specimen Profiling

Metagenomics:

• 16S Targeted Sequencing

Laboratory Instruments:

• ABI3500 Genetic Analyzer
• Ion Torrent PGM System
• OneTouch2/ES System
• ABI7900 384-Well Real-Time Genetic Analyzer
• QuantStudio 3-D Digital PCR
• AATI Fragment Analyzer
• Beckman Biomek 3000 Liquid Handler
• Qubit
• NanoDrop 2000
• NanoDrop One
• Nucleic Acid WorkstationVeriti Thermocyclers
• Pippen Prep