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Below: The identification of misfolded TDP-43 proteins in neurons of brain tissue (brown structures indicated by arrows) was a criterion for entry into the genome-wide study.  The homogeneity of the pathologically defined cohort is felt to be a major reason for the study's success.

Credit: Felix Geser, MD, PhD, University of Pennsylvania School of Medicine.

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The identification of misfolded TDP-43 proteins in neurons of brain tissue (brown structures indicated by arrows) was a criterion for entry into the genome-wide study. The homogeneity of the pathologically defined cohort is felt to be a major reason for the study's success.

Below: A “Manhattan” plot demonstrating the locations across the chromosomes of the human genome (horizontal axis) where there was a statistically significant difference between genetic variants in the disease samples compared to normal individuals (vertical axis).  The higher the dots, the stronger the genetic association.  A very strong signal is seen in chromosome 7.

Credit: Van Deerlin et al, Nature Genetics, 2010

Download high-resolution version.

A “Manhattan” plot demonstrating the locations across the chromosomes of the human genome (horizontal axis) where there was a statistically significant difference between genetic variants in the disease samples compared to normal individuals (vertical axis). The higher the dots, the stronger the genetic association. A very strong signal is seen in chromosome 7.

 

 


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