Abstract: The present invention relates generally to the field of human genetics. Specifically, the present invention relates to methods and materials used to isolate and detect a human breast cancer predisposing gene (BRCA2), some mutant alleles of which cause susceptibility to cancer, in particular breast cancer. More specifically, the invention relates to germline mutations in the BRCA2 gene and their use in the diagnosis of predisposition to breast cancer. The present invention further relates to somatic mutations in the BRCA2 gene in human breast cancer and their use in the diagnosis and prognosis of human breast cancer. Additionally, the invention relates to somatic mutations in the BRCA2 gene in other human cancers and their use in the diagnosis and prognosis of human cancers. The invention also relates to the therapy of human cancers which have a mutation in the BRCA2 gene, including gene therapy, protein replacement therapy and protein mimetics.
Type:
Grant
Filed:
April 29, 1996
Date of Patent:
November 17, 1998
Assignees:
Myriad Genetics, Inc., Endo Recherche, Inc., HSC Research & Development Limited Partnership, Trustees of the University of Pennsylvaina
Inventors:
Sean V. Tavtigian, Alexander Kamb, Jacques Simard, Fergus Couch, Johanna M. Rommens, Barbara L. Weber
Abstract: This invention provides a novel purified TGF-.beta.-binding glycoprotein, endoglin, an isolated nucleic acid molecule that encodes an amino acid sequence corresponding to the TGF-.beta.-binding glycoprotein, soluble endoglin-derived polypeptide, and fragments thereof. A pharmaceutical composition which comprises the endoglin-derived polypeptide purified by applicants or produced by applicants' recombinant methods and a pharmaceutically acceptable carrier is further provided as well as methods of treating patients which comprise administering to the patient the pharmaceutical composition of this invention.
Type:
Grant
Filed:
October 30, 1992
Date of Patent:
November 3, 1998
Assignee:
HSC Research & Development Limited Partnership
Inventors:
Michelle Letarte, Joan Massague, Carmelo Bernabeu, Sela Cheifetz
Abstract: A novel gene, AF1q, is described and its cDNA sequence provided. Methods are provided for detection of malignancies in humans by examining the level of expression of or the integrity of the AF1q gene.
Type:
Grant
Filed:
January 23, 1996
Date of Patent:
September 15, 1998
Assignee:
HSC Research and Development, Limited Partnership
Abstract: This invention provides a novel purified TGF-.beta.-binding glycoprotein, endoglin, an isolated nucleic acid molecule that encodes an amino acid sequence corresponding to the TGF-.beta.-binding glycoprotein, soluble endoglin-derived polypeptide, and fragments thereof. A pharmaceutical composition which comprises the endoglin-derived polypeptide purified by applicants or produced by applicants' recombinant methods and a pharmaceutically acceptable carrier is further provided as well as methods of treating patients which comprise administering to the patient the pharmaceutical composition of this invention.
Type:
Grant
Filed:
June 2, 1995
Date of Patent:
February 17, 1998
Assignee:
HSC Research & Development Limited Partnership
Inventors:
Michelle Letarte, Joan Massague, Carmelo Bernabeu, Sela Cheifetz
Abstract: Fanconi Anemia is a human genetic disease, the precise cause of which is, to date, unknown. This invention provides an isolated human cDNA molecule which is able to specifically complement, in one type of Fanconi Anemia, (type C) the characteristic defect exhibited by cells derived from patients with Fanconi Anemia. The genomic gene from which this cDNA is derived is also provided as is the sequence of the protein encoded by this gene. Mutations in this gene are proposed to underlie Fanconi Anemia Type C. Diagnostic and therapeutic applications which derive from this work are described. The murine homolog of the human cDNA is also provided.
Type:
Grant
Filed:
May 15, 1995
Date of Patent:
October 28, 1997
Assignees:
HSC Research & Development Limited Partnership, The United Medical And Dental Schools of Guy's and St. Thomas's Hospitals
Inventors:
Manuel Buchwald, Craig A. Strathdee, Rachel Wevrick, Christopher George Porter Mathew
Abstract: Methods and compositions for preparation of frozen fermented food products using antifreeze polypeptide-expressing microorganisms are provided. In particular the invention provides for use of fish antifreeze polypeptide-expressing microorganisms in fermentation of milk to produce and store frozen yogurt.
Type:
Grant
Filed:
October 12, 1994
Date of Patent:
October 14, 1997
Assignee:
HSC Research and Development Limited Partnership
Inventors:
Garth L. Fletcher, Choy L. Hew, Shashikant B. Joshi, Yaling Wu
Abstract: Compounds of the general structure ##STR1## are disclosed, wherein X is O, C.sub.n, NH, or S, wherein n is 1, 2, 3 or 4; R1 is OH, CH.sub.3, CH.sub.2 OH, N.sub.3 or CH.sub.2 N.sub.3 ; R3 is H or CH.sub.3 ; R5 is Y-R2, wherein Y is a six-carbon chain optionally containing up to three double or triple bonds or a mixture of double and triple bonds up to a maximum of three; R2 is C.sub.1 -C.sub.10 alkyl OH, C.sub.1 -C.sub.10 alkyl N.sub.3 or COOR4, wherein R4 is H, a branched or unbranched C.sub.1 -C.sub.10 alkyl (including substituted alkyl radicals), cycloalkyl, preferably C.sub.5 or C.sub.6 cycloalkyl, or a five- or six-membered aryl radical (including substituted aryl radicals), i.e. R2 is COOH or an ester of R4; R6 is a seven-carbon chain optionally containing up to three double or triple bonds or a mixture of double and triple bonds up to a maximum of three; and . . . . . . indicates a single, double or triple bond.
Type:
Grant
Filed:
March 21, 1995
Date of Patent:
April 1, 1997
Assignee:
HSC Research and Development Limited Partnership
Abstract: An "all fish" chimeric gene construct suitable for gene transfer for commercially important fish comprises the antifreeze gene (AFP) promoter fused to the desired gene sequence which is incorporated into fish embryos. The desired gene sequence is expressed in the transfected fish to provide a transgenic fish having the characteristics of the gene sequence.
Type:
Grant
Filed:
March 10, 1994
Date of Patent:
August 13, 1996
Assignees:
HSC Research and Development Limited Partnership, Seabright Corporation
Abstract: A substantially homogeneous protein having cystic fibrosis transmembrane conductance regulator activity is provided. Also provided is a therapeutically effective composition for treating a subject having cystic fibrosis.
Type:
Grant
Filed:
October 13, 1994
Date of Patent:
August 6, 1996
Assignee:
HSC Research & Development Limited Partnership
Inventors:
John R. Riordan, Christine E. Bear, Mohabir Ramjeesingh, Canhui Li
Abstract: A method for isolating a cDNA specific for the human ryanodine receptor is disclosed. The gene is associated with malignant hyperthermia, a hypermetabolic syndrome triggered primarily by inhalation anesthetics. The cDNA can be cloned and expressed in a recombinant plasmid or phage. The cDNA, or fragments thereof, is used as diagnostic probes for individuals at risk for malignant hyperthermia using restriction fragment length polymorphism analysis. The cDNA is that sequenced in FIG. 2 of this specification.
Type:
Grant
Filed:
April 13, 1992
Date of Patent:
May 9, 1995
Assignees:
The University of Toronto Innovations Foundation, HSC Research and Development Limited Partnership, The Toronto Hospital
Inventors:
Ronald G. Worton, David H. MacLennan, Beverley A. Britt
Abstract: An adjustable-resistance anti-siphon device for a cerebrospinal fluid shunt is provided. The device has a substantially rigid housing having an internal cavity which contains a first chamber and a second chamber, the first chamber having at least one flexible wall, an inlet port and an outlet port, the ports passing through apertures in the housing; the second chamber being gas-filled and being in pressure communication with at least a portion of the at least one flexible wall of the first chamber; and gas pressure control means connected to said gas-filled chamber whereby the pressure in said gas-filled chamber may be adjusted.
Type:
Grant
Filed:
December 10, 1990
Date of Patent:
March 9, 1993
Assignees:
HSC Research & Development Limited Partnership, James M. Drake
Inventors:
James M. Drake, Richard Fox, Andre Bahoric