Mark J Curran

US Patent:

6420124, Jul 16, 2002

Filed:

Jun 19, 2000

Appl. No.:

09/597735

Inventors:

Mark T. Keating - Brookline MA
Michael C. Sanguinetti - Salt Lake City UT
Mark E. Curran - Newark CA
Gregory M. Landes - Northboro MA
Timothy D. Connors - Hopkinton MA
Timothy C. Burn - Hockessin DE
Igor Splawski - Allston MA

Assignee:

University of Utah Research Foundation - Salt Lake City UT
Genzyme Corporation - Framingham MA

International Classification:

G01N 3353

US Classification:

435 71, 435 72, 435 721, 436507

Abstract:

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes ARE also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

US Patent:

6972176, Dec 6, 2005

Filed:

Feb 20, 2003

Appl. No.:

10/368643

Inventors:

Mark T. Keating - Brookline MA, US
Michael C. Sanguinetti - Salt Lake City UT, US
Mark E. Curran - Titusville NJ, US
Gregory M. Landes - Livermore CA, US
Timothy D. Connors - Hopkinton MA, US
Timothy C. Burn - Hockessin DE, US
Igor Splawski - Allston MA, US
Qing Wang - Shaker Heights OH, US

Assignee:

University of Utah Research Foundation - Salt Lake City UT
Genzyme Corporation - Framingham MA

International Classification:

C12Q001/68

US Classification:

435 6

Abstract:

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes ARE also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.

US Patent:

62779788, Aug 21, 2001

Filed:

Aug 17, 1998

Appl. No.:

9/135010

Inventors:

Mark T. Keating - Brookline MA
Michael C. Sanguinetti - Salt Lake City UT
Mark E. Curran - Newark CA
Gregory M. Landes - Livermore CA
Timothy D. Connors - Hopkinton MA
Timothy C. Burn - Hockessin DE
Igor Splawski - Allston MA

Assignee:

University of Utah Research Foundation - Salt Lake City UT
Genzyme Corporation - Framingham MA

International Classification:

C07K 14705
C12N 1512
C12N 516

US Classification:

536 235

Abstract:

The genomic structure including the sequence of the intron/exon junctions is disclosed for KVLQT1 and KCNE1 which are genes associated with long QT syndrome. Additional sequence data for the two genes are also disclosed. Also disclosed are newly found mutations in KVLQT1 which result in long QT syndrome. The intron/exon junction sequence data allow for the design of primer pairs to amplify and sequence across all of the exons of the two genes. This can be used to screen persons for the presence of mutations which cause long QT syndrome. Assays can be performed to screen persons for the presence of mutations in either the DNA or proteins. The DNA and proteins may also be used in assays to screen for drugs which will be useful in treating or preventing the occurrence of long QT syndrome.