Patents by Inventor Richard P. Lifton

Richard P. Lifton has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).

  • Loss of Function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
    Publication number: 20200362008
    Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
    Type: Application
    Filed: May 27, 2020
    Publication date: November 19, 2020
    Inventors: Richard P. LIFTON, Ute SCHOLL
  • Loss of function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
    Patent number: 10696729
    Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
    Type: Grant
    Filed: April 28, 2017
    Date of Patent: June 30, 2020
    Assignee: Yale University
    Inventors: Richard P. Lifton, Ute Scholl
  • Compositions and methods for assessing and treating adrenal diseases and disorders
    Patent number: 9982026
    Abstract: The present invention relates to the discovery that mutations in KCNJ5 are associated with adrenal diseases and disorders. The invention includes compositions and methods for the assessment, characterization and treatment of adrenal diseases and disorders, based upon the presence or absence of a KCNJ5 mutation that is associated with an adrenal disease or disorder.
    Type: Grant
    Filed: January 4, 2012
    Date of Patent: May 29, 2018
    Assignee: YALE UNIVERSITY
    Inventors: Richard P. Lifton, Bixiao Zhao, Murim Choi, Goran Akerstrom, Gunnar Westin, Peyman Bjorklund, Per Hellman
  • Loss of Function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
    Publication number: 20170298114
    Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
    Type: Application
    Filed: April 28, 2017
    Publication date: October 19, 2017
    Inventors: Richard P. LIFTON, Ute SCHOLL
  • Loss of function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
    Patent number: 9732138
    Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
    Type: Grant
    Filed: February 9, 2011
    Date of Patent: August 15, 2017
    Assignee: Yale University
    Inventors: Richard P. Lifton, Ute Scholl
  • Compositions and Methods for Assessing and Treating Adrenal Diseases and Disorders
    Publication number: 20140127126
    Abstract: The present invention relates to the discovery that mutations in KCNJ5 are associated with adrenal diseases and disorders. The invention includes compositions and methods for the assessment, characterization and treatment of adrenal diseases and disorders, based upon the presence or absence of a KCNJ5 mutation that is associated with an adrenal disease or disorder.
    Type: Application
    Filed: January 4, 2012
    Publication date: May 8, 2014
    Applicant: Yale University
    Inventors: Richard P. Lifton, Bixiao Zhao, Murim Choi, Goran Akerstrom, Gunnar Westin, Peyman Bjorklund, Per Hellman
  • Loss of Function mutations in KCNJ10 cause SeSAME, a human syndrome with sensory, neurological, and renal deficits
    Publication number: 20110195863
    Abstract: The invention includes a method of identifying a human subject at-risk of developing SeSAME syndrome. The invention also includes a method of diagnosing a human subject afflicted with SeSAME syndrome. The invention further includes a method of identifying a therapeutic agent that modulates a given KCNJ10 mediated K+ current in a mammalian cell. The invention also includes a method of diagnosing a subject as a carrier of SeSAME syndrome.
    Type: Application
    Filed: February 9, 2011
    Publication date: August 11, 2011
    Inventors: Richard P. Lifton, Ute Scholl
  • Mutations in Contaction Associated Protein 2 (CNTNAP2) are Associated with Increased Risk for Ideopathic Autism
    Publication number: 20110118135
    Abstract: The present invention provides compositions and methods for the examination of cells, tissues, and fluids, collectively known as body samples, to identify human subjects at-risk of developing Autism Spectrum Disorder by detecting a chromosomal abnormality or variant in the CNTNAP2 gene, the AUTS2 gene, or both.
    Type: Application
    Filed: January 9, 2009
    Publication date: May 19, 2011
    Inventors: Matthew W. State, Brian J. O'roark, Richard P. Lifton
  • Compositions methods and kits relating to treating and diagnosing hypertension
    Publication number: 20030082720
    Abstract: The present invention relates to novel nucleic acids encoding a mammalian WNK, and proteins encoded thereby, preferably, human WNK1 and human WNK4. These novel nucleic acids, and mutant forms thereof, are associated with, inter alia, renal electrolyte handling, hypertension, and pseudohypoaldosterism type II (PHA II). That is, the present invention relates to novel mutations (e.g., deletions and missense mutations in an exon, intron, or both, of a nucleic acid encoding a WNK) that mediate and/or are associated with altered expression, among other things. These mutations are, in turn, associated with and/or mediate disease (e.g., hypertension, PHA II, and the like). Thus, these nucleic acids provide a novel target for treatment, diagnosis, and development of therapeutics to treat these diseases.
    Type: Application
    Filed: July 17, 2002
    Publication date: May 1, 2003
    Inventors: Richard P. Lifton, Frederick H. Wilson, Keith Choate, Carol Nelson-Williams, Kazuhiko Ishikawa
  • Method to diagnose and treat pathological conditions resulting from deficient ion transport such as pseudohypoaldosteronism type-1
    Patent number: 6551775
    Abstract: The present invention is based, in part, on the identification of the roles of the human ATP-sensitive K+ channel, ENaC in causing pathological condition associated with abnormal ion transport, particularly PHA1. The present invention specifically provides the amino acid sequence of several human altered variants of the ENaC protein as well as the nucleotide sequence that encodes these variants that can be used in diagnosing ion transport disorders.
    Type: Grant
    Filed: April 27, 2000
    Date of Patent: April 22, 2003
    Assignee: Yale University
    Inventors: Richard P. Lifton, Sue S. Chang, Bernard C. Rossier
  • Method to determine predisposition to hypertension
    Patent number: 6165727
    Abstract: The association of the molecular variant G-6A of the angiotensinogen gene with human hypertension is disclosed. The determination of this association enables the screening of persons to identify those who have a predisposition to high blood presure.
    Type: Grant
    Filed: October 29, 1999
    Date of Patent: December 26, 2000
    Assignees: University of Utah Research Foundation, Inserm
    Inventors: Jean-Marc Lalouel, Xavier Jeunemaitre, Richard P. Lifton, Florent Soubrier, Youri Kotelevtsev, Pierre Corvol
  • Method to determine predisposition to hypertension
    Patent number: 5998145
    Abstract: The association of the molecular variant G-6A of the angiotensinogen gene with human hypertension is disclosed. The determination of this association enables the screening of persons to identify those who have a predisposition to high blood pressure.
    Type: Grant
    Filed: June 8, 1998
    Date of Patent: December 7, 1999
    Assignees: Univ. of Utah Research Foundation, INSERM
    Inventors: Jean-Marc Lalouel, Xavier Jeunemaitre, Richard P. Lifton, Florent Soubrier, Youri Kotelevtsev, Pierre Corvol
  • Method to determine predisposition to hypertension
    Patent number: 5763168
    Abstract: The association of the molecular variant G-6A of the angiotensinogen gene with human hypertension is disclosed. The determination of this association enables the screening of persons to identify those who have a predisposition to high blood presure.
    Type: Grant
    Filed: October 7, 1994
    Date of Patent: June 9, 1998
    Assignees: University of Utah Research Foundation, INSERM
    Inventors: Jean-Marc Lalouel, Xavier Jeunemaitre, Richard P. Lifton, Florent Soubrier, Youri Kotelevtsev, Pierre Corvol
  • Angiotensinogen gene variants and predisposition to hypertension
    Patent number: 5589584
    Abstract: The association of molecular variants of the angiotensinogen gene with human essential hypertension is disclosed. The determination of this association enables the screening of persons to identify those who have a predisposition to high blood presure.
    Type: Grant
    Filed: July 1, 1994
    Date of Patent: December 31, 1996
    Assignee: University of Utah Research Foundation
    Inventors: Jean-Marc Lalouel, Xavier Jeunemaitre, Richard P. Lifton, Florent Soubrier, Youri Kotelevtsev, Pierre Corvol
  • Direct genetic test for glucocorticoid-remediable aldosteronism
    Patent number: 5529900
    Abstract: A method of screening for glucocorticoid remediable aldosteronism (GRA) in a mammal by detecting the presence or absence of a chimaeric gene duplication resulting from unequal crossing over of the 11, .beta.-hydroxylase and aldosterone synthase genes, or the product encoded by the chimaeric gene duplication. Presence of the chimaeric gene duplication or its encoded product is indicative of a mammal afflicted with GRA and absence of the chimaeric gene duplication or its product is indicative of a mammal not afflicted with GRA.
    Type: Grant
    Filed: January 8, 1993
    Date of Patent: June 25, 1996
    Assignees: Brigham and Women's Hospital, University of Utah
    Inventors: Richard P. Lifton, Jean-Marc Lalouel
  • Methods to determine predisposition to hypertension and association of variant angiotensinogen gene and hypertension
    Patent number: 5374525
    Abstract: The association of molecular variants of the angiotensinogen gene with human hypertension is disclosed. The determination of this association enables the screening of persons to identify those who have a predisposition to high blood presure.
    Type: Grant
    Filed: September 30, 1992
    Date of Patent: December 20, 1994
    Assignees: University of Utah Research Foundation, Inserm
    Inventors: Jean-Marc Lalouel, Xavier Jeunemaitre, Richard P. Lifton, Florant Soubrier, Youri Kotelevtsev, Pierre Corval