Transgenomic Inc. and non-profit organization PXE International have entered into a collaboration to develop a diagnostic test for the genetic condition, pseudoxanthoma elasticum, commonly known as PXE. The intent is to develop a test based on Transgenomic’s WAVE System and make it available to laboratories around the world.
PXE, which affects an estimated one in twenty- five thousand to fifty thousand people, can affect the skin, eyes, cardiovascular system and/or gastrointestinal system, with significant symptomatic variability among affected individuals.
Research conducted at the University of Hawaii in collaboration with PXE International has identified a gene — the ABCC6/MRP6 gene — that is linked to the disease.
This gene is a member of the ATP– binding cassette (ABC) transporter gene family, one of the largest gene families known.
ABC transporters have been shown to be involved in various inherited diseases, immune system function and resistance of cancer cells to chemotherapy.
Nancy Taylor, vice president of Global Marketing and Alliance Development with Transgenomic, sees this collaboration as just the start.
According to Taylor, “The direct simplicity of our WAVE technology is ideal for the design of new tests for inherited diseases, particularly those characterized by a variety of potential mutation sites dispersed across large or complex genes. Since the WAVE System detects any mutation within a particular DNA fragment, there is no need to design and optimize a specific probe- or primer-based assay for each individual mutation.” PXE International is a lay advocacy group for the genetic condition pseudoxanthoma elasticum (PXE). This dynamic non-profit organization fosters ethical research and policy as well as supports members and the public.
It initiates, coordinates and funds research and provides worldwide patient support.
Transgenomic provides innovative research tools to the genomics segment of the life sciences industry.
These tools enable researchers to discover and understand variation in the human genetic code, or genome, in order to accelerate and improve drug development and diagnostics.