Research > Genomics
Core
 Genomics
Core
Center for Clinical Genomics
1025 Walnut Street
College Building, Room 415
Philadelphia, PA 19107
Director: Paolo Fortina, M.D., Ph.D.
Research in the Genomics Core seeks to understand the changes
and mutations in gene structure that affect the development of
disease using the most recent technological and scientific advances.
The core provides gene expression profiling as well as genotyping
services for all investigators on the Jefferson campus, for clinical/diagnostic
purposes as well as research-oriented projects.
Gene expression profiling offers the potential to analyze comparatively
genome-wide patterns of mRNA expression, assessing the levels
of expression, or “molecular fingerprints” of thousands of genes
within single cells and responses to internal and external change
agents—from a single cell or drop of blood.
Research explores genetic mutations that cause diseases such
as muscular dystrophy, heart failure, colon cancer, cystic fibrosis,
atherosclerosis, and hypertrophic cardiomyopathy. Facilities
can also define individual genetic profiles by the characterization
of single nucleotide polymorphisms (SNPs), which have become
critical in the fine-structure mapping of disease-associated
genes and in determining individual variation in response to
pharmacological treatment. Other approaches screen for characterized
mutations in patients and in at-risk populations.
Activities of the Genomics Core:
- Identifying genes involved in disease states
and how genes are changed under different conditions.
- Identifying non-lethal mutations that influence
response to disease or drugs
- Identifying genes that can provide new drug
targets
- Pharmacogenomics, which can explain a patient's
response to drugs, neural sequence, or a genetic modifier
of a certain disease. This will suggest, within a patient population
for a certain diagnosis, traditional drug treatments/doses
for some patients and alternative treatments/doses for others,
based on the individual's genetic profile. This eliminates
the processes of trial and error as well as unwanted side effects.
Since the Genomics Core was opened in the newly renovated Center
for Translational Medicine in 2003, it has focused on providing
customers with a variety of methods for characterizing nucleic
acid variation including single-base mismatch (SNPs/mutations),
microsatellites, insertions/deletions, gene copy number including
loss of heterozygosity (LOH), and mRNA profiling of differentially
expressed genes. The Core has also been involved and supported
a number of research grants.
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