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Center for Medical Genomics

Center for Medical Genomics

Bringing together researchers in medicine, genomics, molecular biology and statistics to advance basic genomic research and translate that research into new diagnostic, therapeutic, and preventive medical strategies


The mission of the Huck Institutes' Center for Medical Genomics (CMG) is to bring together researchers from diverse areas of scientific expertise to:

  1. Acquire and analyze data on patients’ genomes, particularly in conjunction with other data sources and basic genome biology concepts
  2. Facilitate translation of the resulting knowledge into medical practice

Integrating fundamental genome biology concepts with computational approaches underlies the emerging field of translational genomics.

About medical genomics

Medical genomics specifically deals with the acquisition and use of information concerning individual patient genomes for preventing, diagnosing, treating and curing diseases.

Utilizing genomics for personalized medicine requires extensive cross-disciplinary interactions, in order to:

  1. Apply computational and statistical approaches
  2. Comprehend basic science concepts (i.e. chromosome behavior, mutational dynamics and the epigenome)
  3. Understand medical principles and practices

For example, applying tumor sequencing information for personalized oncology requires a multidisciplinary tumor board of team members from genomics, bioinformatics, pathology, clinical genetics, bioethics and clinical oncology.

Interdisciplinary collaboration

Since the Center's inception in 2008, its members have worked to coalesce interdisciplinary teams around two major areas of research:

  1. Mitochondrial genetics
  2. Chromosome stability

Currently, the Center includes researchers from eighteen laboratories (nine from Hershey and nine from University Park).

Our activities have built strong bridges between the University Park and Hershey campuses, and resulted in multiple interdisciplinary peer-reviewed publications and grant applications.

We have implemented regular monthly, cross-campus research meetings of members, and hosted annual retreats to increase the visibility of our group.

Our fifth annual retreat in March 2014 was highly successful, drawing 114 participants from 32 different departments, representing both Hershey and University Park campuses.

Moreover, our use of prior Center funding has advanced the medical genomics resources available to the university community.

Our activities have also resulted in the cross-training of several graduate students, whose research resulted in new computational programs that have been implemented in Galaxy.

Recent publications
Endangered horse species may be older by 150 millennia A team of researchers led by Kateryna Makova and including Anton Nekrutenko has discovered an evolutionary divergence from the domestic horse that is exponentially more ancient than previously thought.
The discovery of a "maternal age effect" by a team of Penn State scientists that could be used to predict the accumulation of mitochondrial DNA mutations in maternal egg cells — and the transmission of these mutations to children — could provide valuable insights for genetic counseling. Children born to older mothers have greater rates of mitochondrial mutations - Full article
Huck Institutes affiliate Kateryna Makova, a professor of biology at Penn State, has been honored by the University's Eberly College of Science by being appointed the Francis R. and Helen M. Pentz Professor of Science. Kateryna Makova honored as Penn State's Francis R. Pentz and Helen M. Pentz Professor of Science - Full article
A crucial development for personalized genomic medicine – researchers at the Center for Medical Genomics elucidate intricacies of mutagenesis. New characterization of human genome mutability catalyzes biomedical research - Full article
Nov 13, 2014 Thursday 3:00 PM
Marzia A. Cremona (Politecnico di Milano (Milano, Italy))
Peak shape clustering: an application to GATA-1