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Dr. Daniel J. Rader Personalized Medicine for the Heart:
The Complex Genetics Initiative

Daniel J. Rader, MD
Primary Investigator »

There are over 6 million known ways that human DNA can vary from one person to the next. Some rare diseases are caused by a single change in one gene while other common diseases like obesity, coronary artery disease, and diabetes may be caused by several genes working together. The Complex Genetics Initiative hopes to learn about the genetic causes of common cardiovascular diseases and how different people respond to medications and treatments.

Over the next five years 100,000 adult volunteers seeking patient care at Penn Medicine will be invited to join the Genetics of Cardiovascular and Metabolic Phenotypes Study. The study will build a DNA bank to help identify genes involved in complex cardiovascular and metabolic diseases and disorders.


Genetics of Cardiovascular and Metabolic Phenotypes Study

Study Details »

This research study will develop a bank of DNA material voluntarily provided by patients that come to Penn Medicine for care, treatment, or surgery. The study hopes to learn about the genetic causes of cardiovascular and metabolic diseases and how different people respond to medications and treatments.

The study focuses on phenotypes relevant to cardiovascular disease and diabetes mellitus to investigate the impact of genetics and discover relationships between associated biomarkers. DNA samples will be genotyped with a large number of genetic markers using a genechip technology, in search for SNPs (single nucleotide polymorphisms) that either together or in combination with certain environmental factors (exposures), influence disease. Finding genetic variants among phenotypes associated with the risk of cardiovascular and metabolic disease may provide insights into disease pathways and identify novel targets for preventative and therapeutic strategies.

Collaborators

The Complex Genetics Inititative is led by the Penn Cardiovascular Institute (Penn CVI) and the Institute for Diabetes, Obesity and Metabolism (IDOM). The initiative bridges clinical programs with translational research focused in the area of human genetics of cardiovascular and metabolic diseases. It leverages the research efforts of many departments, centers and institutes including:

Department of Cell and Developmental Biology
Department of Genetics
Department of Medicine
Department of Radiology
Department of Surgery - Cardiovascular Surgery
Institute for Regenerative Medicine (IRM)
Institute for Translational Medicine and Therapeutics (ITMAT)
Center for Applied Genomics - Children’s Hospital of Philadelphia (CHOP)
Center for Biomedical Informatics - CHOP
Center for Clinical Epidemiology and Biostatistics

Resources
CONTACTS

Daniel Rader, MD
Linda Watts, (215) 573-4176

Genetics Study Information
Jennifer Morrissey, MSN, MBE, CRNP,
(215) 615-5443

IN THE NEWS

Economic Stimulus Fuels NIH Search for Genetic Disease Signatures
(Sept. 2009)

Amish Gene Mutation Is Tied to Fast Fat Breakdown: NY Times article features comments by Dr. Daniel Rader
(Dec. 2008)

PUBLICATIONS

Resistin gene variation is associated with systemic inflammation but not plasma adipokine levels, metabolic syndrome or coronary atherosclerosis in non-diabetic caucasians (May 2009)

Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants (Feb. 2009)

Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies (Oct. 2008)

From Darwin's Finches to Canaries in the Coal Mine - Mining the Genome for New Biology (June 2008)
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