Patents Assigned to Heller Institute for Medical Research
  • Pyrin gene and mutants thereof, which cause familial Mediterranean fever
    Patent number: 6627745
    Abstract: The invention provides the nucleic acid sequence encoding the protein associated with familial Mediterranean fever (FMF). The cDNA sequence is designated as MEFV. The invention is also directed towards fragments of the DNA sequence, as well as the corresponding sequence for the RNA transcript and fragments thereof. Another aspect of the invention provides the amino acid sequence for a protein (pyrin) associated with FMF. The invention is directed towards both the full length amino acid sequence, fusion proteins containing the amino acid sequence and fragments thereof. The invention is also directed towards mutants of the nucleic acid and amino acid sequences associated with FMF. In particular, the invention discloses three missense mutations, clustered in within about 40 to 50 amino acids, in the highly conserved rfp (B30.2) domain at the C-terminal of the protein. These mutants include M6801, M694V, K695R, and V726A.
    Type: Grant
    Filed: August 7, 2000
    Date of Patent: September 30, 2003
    Assignees: The United States of America as represented by the Department of Health and Human Services, Cedars-Sinai Medical Center, University of California, University of Michigan, Women's and Children's Hospital, Heller Institute for Medical Research
    Inventors: Daniel L. Kastner, Ivona Aksentijevichh, Michael Centola, Zuoming Deng, Ramen Sood, Francis S. Collins, Trevor Blake, P. Paul Liu, Nathan Fischel-Ghodsian, Deborah L. Gumucio, Robert I. Richards, Darrell O. Ricke, Norman A. Doggett, Mordechai Pras