Methods For Determining The Presence Or Risk Of Developing Facioscapulohumeral Dystrophy (FSHD)

Brief Description

Applications

This technology provides a DNA-based diagnostic method to determine the presence or the susceptibility of developing Facioscapulohumeral Dystrophy (FSHD) and also a method to treat FSHD.

 

Advantages

Currently, the diagnostic test for FSHD1 requires pulse-field gel electrophoresis and Southern blotting to detect the contraction of the D4Z4 repeats, and there are no commercially available diagnostic tests for FSHD2. This invention provides an improved method for screening for the presence or risk of developing FSHD during pregnancy or after birth. Further, this method applies both to FSHD1 and FSHD2.

 

URV Reference Number: 6-2047

Patent Information:
Category(s):
Diagnostic
For Information, Contact:
Weimin Kaufman
Licensing Manager
University of Rochester
585.276.6608
weimin.kaufman@rochester.edu
Inventors:
Al-Rabi Tawil
Stephen Tapscott
Linda Geng
Silvere van der Maarel
Keywords:
Diagnostic
Musculoskeletal