Identification Of The Gene Causing Familial Mediterranean Fever


The invention identifies the gene (MEFV) encoding the protein (pyrin) that is associated with familial Mediterranean fever (FMF). FMF, a recessive inherited disorder, is characterized by episodes of fever, inflammation, and unexplained arthritis, pleurisy, or abdominal pain. Pyrin is thought to a play a role in keeping inflammation under control, whereas mutated forms lead to a malfunctioning protein and uncontrolled inflammation. Mutated forms of MEFV were isolated and correlated to FMF disease. It is anticipated that the immediate use of the pyrin gene and its mutations will be to aid in the diagnosis of FMF. It may also prove useful for evaluating FMF as a possible cause of currently unexplained fevers or abdominal pain. The normal gene and its mutations may also be useful for studying and controlling inflammation.

Inventors:

Daniel Kastner (NIAMS)  ➽ more inventions...

Ivona Aksentijevich (NIAMS)  ➽ more inventions...

Michael Centola (NIAMS)  ➽ more inventions...

Deng Zuoming (NIAMS)  ➽ more inventions...

Francis Collins (NHGRI)  ➽ more inventions...

Trevor Blake (NHGRI)  ➽ more inventions...

Sood Raman (NIAMS)  ➽ more inventions...

Pu Liu (NHGRI)  ➽ more inventions...

Nathan Fischel-gluodsi
Deborah Guinicio

Intellectual Property:
U.S. Pat: 6,627,745 issued 2003-09-30
US Application No. 09/486,147
PCT Application No. PCT/US98/17255

Publications:
The International FMF Consortium. doi:10.1016/S0092-8674(00)80539-5

Licensing Contact:
Benfeard Williams, Ph.D.
Email: benfeard.williams@nih.gov
Phone: 301-435-4507

OTT Reference No: E-257-1997-0
Updated: May 14, 2016