Patents by Inventor Ingrid Eileen Scheffer
Ingrid Eileen Scheffer 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).
-
Publication number: 20230193389Abstract: The present invention related to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.Type: ApplicationFiled: October 17, 2022Publication date: June 22, 2023Applicants: ITEK VENTURES PTY LTD, The University of Melbourne, Central Adelaide Local Health Network IncorporatedInventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
-
Patent number: 11473143Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.Type: GrantFiled: July 28, 2017Date of Patent: October 18, 2022Assignees: The University of Melbourne, Central Adelaide Local Health Network Incorporated, Itek Ventures PTY Ltd (University of South Australia)Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
-
Publication number: 20180215803Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH19) protein deficiency or altered PCDH19 protein function are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH19 deficiency or altered PCDH19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRNA are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: ApplicationFiled: January 9, 2018Publication date: August 2, 2018Inventors: Leanne Michelle DIBBENS, Ingrid Eileen SCHEFFER, Samuel Frank BERKOVIC, John Charles MULLEY, Jozef GECZ
-
Patent number: 9873723Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH 19) protein deficiency or altered PCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardation limited to Females) are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH 19 deficiency or altered PCDH 19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: GrantFiled: January 5, 2009Date of Patent: January 23, 2018Assignees: The University of Melbourne, Central Adelaide Local Health Network Inc.Inventors: Leanne Michelle Dibbens, Ingrid Eileen Scheffer, Samuel Frank Berkovic, John Charles Mulley, Jozef Gecz
-
Patent number: 9752193Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.Type: GrantFiled: October 29, 2012Date of Patent: September 5, 2017Assignees: The University of Melbourne, Central Adelaide Local Health Network Incorporated, Itek Ventures Pty Ltd (University of South Australia)Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
-
Publication number: 20140304846Abstract: The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype.Type: ApplicationFiled: October 29, 2012Publication date: October 9, 2014Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
-
Patent number: 8288096Abstract: A method for the diagnosis of SMEI in a patient comprising: (1) detecting an alteration in the SCN1A gene, including in a regulatory region of the gene, in a patient sample; (2) ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated; and (3) (a) establishing a diagnosis of a high probability of SMEI where the alteration is known to be SMEI associated; or (b) establishing a diagnosis of a low probability of SMEI where the alteration is non-SMEI associated; or (e) or, if not known to be either, (i) considering genetic data for parents and/or relatives; (ii) establishing whether the alteration has arisen de novo or is inherited; and (iii) establishing a diagnosis of a low probability of SMEI where the alteration is inherited but a diagnosis of a high probability of SMEI if the alteration is de novo.Type: GrantFiled: April 26, 2010Date of Patent: October 16, 2012Assignee: Bionomics LimitedInventors: Steven Petrou, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Patent number: 8129142Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event as set forth in one of SEQ ID Numbers: 1-72.Type: GrantFiled: August 6, 2004Date of Patent: March 6, 2012Assignee: Bionomics LimitedInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Anne Davy
-
Patent number: 7989182Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134.Type: GrantFiled: January 29, 2010Date of Patent: August 2, 2011Assignee: Bionomics LimitedInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Publication number: 20110126302Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH 19) protein deficiency or altered PCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardation limited to Females) are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH 19 deficiency or altered PCDH 19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: ApplicationFiled: January 5, 2009Publication date: May 26, 2011Inventors: Leanne Michelle Dibbens, Ingrid Eileen Scheffer, Samuel Frank Berkovic, John Charles Mulley, Jozef Gecz
-
Publication number: 20100203548Abstract: A method for the diagnosis of SMEI in a patient comprising: (1) detecting an alteration in the SCN1A gene, including in a regulatory region of the gene, in a patient sample; (2) ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated; and (3) (a) establishing a diagnosis of a high probability of SMEI where the alteration is known to be SMEI associated; or (b) establishing a diagnosis of a low probability of SMEI where the alteration is non-SMEI associated; or (e) or, if not known to be either, (i) considering genetic data for parents and/or relatives; (ii) establishing whether the alteration has arisen de novo or is inherited; and (iii) establishing a diagnosis of a low probability of SMEI where the alteration is inherited but a diagnosis of a high probability of SMEI if the alteration is de novo.Type: ApplicationFiled: April 26, 2010Publication date: August 12, 2010Inventors: Steven Petrou, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Publication number: 20100136623Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134.Type: ApplicationFiled: January 29, 2010Publication date: June 3, 2010Inventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Patent number: 7723027Abstract: A method for the diagnosis of SMEI in a patient comprising: (1) detecting an alteration in the SCN1A gene, including in a regulatory region of the gene, in a patient sample; (2) ascertaining whether the alteration is known to be SMEI associated or non-SMEI associated; and (3) (a) establishing a diagnosis of a high probability of SMEI where the alteration is known to be SMEI associated; or (b) establishing a diagnosis of a low probability of SMEI where the alteration is non-SMEI associated; or (e) or, if not known to be either, (i) considering genetic data for parents and/or relatives; (ii) establishing whether the alteration has arisen de novo or is inherited; and (iii) establishing a diagnosis of a low probability of SMEI where the alteration is inherited but a diagnosis of a high probability of SMEI if the alteration is de novo.Type: GrantFiled: March 23, 2004Date of Patent: May 25, 2010Assignee: Bionomics LimitedInventors: Steven Petrou, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Publication number: 20100088778Abstract: A method for the diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in a patient comprising testing for an alteration in the SCN1A gene in a sample obtained from the patient; and if an alteration is identified, comparing said alteration to any one of those listed in Table 3, wherein if said alteration is identical to any one of those listed in Table 3, a diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in said patient is made in accordance with the correlation set forth in Table 3.Type: ApplicationFiled: June 16, 2006Publication date: April 8, 2010Inventors: John Charles Mulley, Louise Harkin, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Steven Petrou
-
Publication number: 20090081724Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event as set forth in one of SEQ ID Numbers: 1-72.Type: ApplicationFiled: August 6, 2004Publication date: March 26, 2009Applicant: BIONOMICS LIMITEDInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Anne Davy
-
Publication number: 20070117095Abstract: A method for the diagnosis of a neonatal or infantile epilepsy syndrome as BFNIS in a patient comprising testing for the presence of an alteration in the SCN2A gene, including in a regulatory region of the gene, in a patient sample, and establishing a diagnosis which will indicate a high probability of BFNIS when an SCN2A alteration is detected or establishing a diagnosis which will indicate a low probability of BFNIS when an SCN2A alteration is not detected.Type: ApplicationFiled: October 13, 2004Publication date: May 24, 2007Inventors: Ingrid Eileen Scheffer, Samuel Berkovic, Sarah Heron, John Mulley
-
Publication number: 20040229257Abstract: A method for the diagnosis of SMEI in a patient comprising:Type: ApplicationFiled: March 23, 2004Publication date: November 18, 2004Inventors: Steven Petrou, Samuel Frank Berkovic, Ingrid Eileen Scheffer
-
Publication number: 20040191791Abstract: An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.Type: ApplicationFiled: May 5, 2004Publication date: September 30, 2004Inventors: Robyn Heather Wallace, John Charles Mulley, Ingrid Eileen Scheffer