Transcript PXE BIENNIAL RESEARCH MEETING, 2014Bethesda, …

PXE BIENNIAL RESEARCH
MEETING, 2014
Bethesda, MD
September 22nd-23rd
Karobi Moitra, PhD
Clare Boothe Luce Assistant Professor
Trinity Washington University
Washington, DC.
Pseudoxanthoma elasticum - PXE
A rare disease
Autosomal recessive
Inheritance
ABCC6
Gene
Chromosome
Chromosome 16
Frequency
Symptoms
~1 in 50,000 worlwide
~12,000 patients in US
Mineralization of connective tissues in the
body leading to blindness and heart disease
Our Poster Title
Novel Variants in ABCC6 and Modifier
Genes in PXE Patients Identified by Next
Generation Sequencing
Our Poster
The student presenters from Trinity
Michelle Jaldin, Sonia Garcia and Clementine Etoundi
The presenters with Pat Terry: Co-founder, PXE
International and Mike Dean, Lab Chief NIH
The presenters
Some of the attendees