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Nemours Biomedical Research

(302) 651-6884


Biomolecular Core Lab

Nemours Biomedical Research

About Biomolecular Core Lab

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.

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)
Shared Equipment:
  • QuantStudio 3-D Digital PCR
  • Agilent Bioanalyzer Lab-On-A-Chip
  • Beckman Biomek 3000 Liquid Handler
  • NanoDrop 2000
  • Stratagene Gradient Robocycler
  • ABI7900 384-Well Real-Time Genetic Analyzer
  • Affymetrix GeneChip System 3000
  • PCR Tamer
  • Thermocyclers
  • Pippen Prep

Contact Biomolecular Core Laboratory

Katia Sol-Church, PhD

Director
(302) 651-6705
katia.solchurch@nemours.org

Ellen Hitchens

Research Technician 1
(302) 651-6707
ellen.hitchens@nemours.org

 

Jennifer Holbrook, BS

Assistant Director
(302) 651-6712
jennifer.holbrook@nemours.org

Deborah Stabley, BS

Senior Research Assistant
(302) 651-6712
deborah.stabley@nemours.org


Applied Clinical Genomics

Our Center for Applied Clinical Genomics works to turn new genetic information discovered by our researchers into tangible improvements in patient care.
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