Interview with Karobi Moitra, Ms, PhD
NOVEMBER 18, 2011
By Terry Mac Dermaid, Assistant Director
This article first appeared in the April 2012 PXE MicroMemberGram
Mutations in ABCC6 and Modifier Genes Responsible for PXE
Terry Mac Dermaid: How did you become involved with PXE International?
Karobi Moitra: I became involved with PXE International through Sharon Terry. Ever since I had heard her first talk about Pseudoxanthoma Elasticum (PXE) during the North American ABC Genetic Workshop, I had become interested in this rare disease. After arriving at the National Cancer Institute and starting work in Mike Dean’s group the opportunity presented itself to continue an ongoing collaboration with PXE International. Fortuitously my summer intern, Alex Borsa, arrived at the NCI during the summer of 2011 to start his laboratory internship, and I informed him of an interesting project we had envisioned involving PXE. We got in touch with Sharon, and she arranged for us to receive DNA samples collected from PXE patients around the world.
TM: What project are you currently working on?
KM: We are currently analyzing the genomes of those patients who suffer from pseudoxanthoma elasticum. Using next generation exome sequencing technologies and validation with Sanger sequencing methods, we are able to observe the exact sequence of each patient’s relevant exomes, and will attempt to locate the existing mutations responsible for each patient’s disease.
TM: What results are you hoping to find?
KM: PXE is caused by mutations in the ABCC6 gene. In the process of analyzing each affected individual’s DNA*, we hope to discover new, undocumented mutations. We are also analyzing other genes that have caused a “PXE-like” condition in some individuals.
TM: How will your work eventually help the PXE community?
KM: Although more and more is being revealed about pseudoxanthoma elastsicum, much is still unknown. If there are genes that modify PXE, that will be important. Identifying new mutations in patients’ genes allows us to better understand PXE on its most fundamental level, and each discovery adds to the pool of knowledge relating PXE symptoms to an individual’s genetic makeup.