Patents Assigned to Central Adelaide Local Health Network Incorporated
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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
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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
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Patent number: 10538811Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.Type: GrantFiled: March 20, 2017Date of Patent: January 21, 2020Assignee: Central Adelaide Local Health Network IncorporatedInventors: Jozef Gecz, Petter Stromme
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Publication number: 20180030536Abstract: 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: July 28, 2017Publication date: February 1, 2018Applicants: ITEK VENTURES PTY LTD, The University of Melbourne, Central Adelaide Local Health Network IncorporatedInventors: Sarah Elizabeth HERON, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Elleen Scheffer, John Charles Mulley
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Patent number: 9828351Abstract: The present disclosure relates generally, but not exclusively, to compounds and their use as enzyme interacting agents, in particular, agents which interact with one or more enzymes in the sphingolipid biosynthesis pathway. The disclosure further relates to the use of such compounds as research tools, use in therapy, to compositions and agents comprising said compounds, and to methods of treatment using said compounds.Type: GrantFiled: June 26, 2015Date of Patent: November 28, 2017Assignees: MONASH UNIVERSITY, UNIVERSITY OF SOUTH AUSTRALIA, CENTRAL ADELAIDE LOCAL HEALTH NETWORK INCORPORATEDInventors: Bernard Luke Flynn, Luigi Aurelio, Carmen Vittoria Scullino, Bing Hui Wang, Stuart Maxwell Pitson, Melissa Rose Pitman
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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
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Patent number: 9631234Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.Type: GrantFiled: November 30, 2012Date of Patent: April 25, 2017Assignee: Central Adelaide Local Health Network IncorporatedInventors: Jozef Gecz, Petter Stromme
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Publication number: 20130340101Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.Type: ApplicationFiled: November 30, 2012Publication date: December 19, 2013Applicant: CENTRAL ADELAIDE LOCAL HEALTH NETWORK INCORPORATEDInventor: Central Adelaide Local Health Network Incorporate
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Patent number: 8323885Abstract: An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.Type: GrantFiled: November 26, 2002Date of Patent: December 4, 2012Assignee: Central Adelaide Local Health Network IncorporatedInventors: Jozef Gecz, Petter Stromme