Janice J Chou

US Patent:

54609429, Oct 24, 1995

Filed:

Sep 10, 1993

Appl. No.:

8/119773

Inventors:

Janice Y. Chou - Potomac MD
Ke-Jian Lei - Bethesda MD
Leslie L. Shelly - Rockville MD

Assignee:

The United States of America as represented by the Department of Health
and Human Services - Washington DC

International Classification:

C12N 1511
C12N 1555
C12Q 142
C12Q 168

US Classification:

435 6

Abstract:

This invention relates to nucleic acid sequences and methods useful for producing recombinant glucose-6-phosphate (G-6-Pase). In addition, the invention relates to specific mutations in the gene encoding human G-6-Pase and methods for detecting the mutations and thus diagnosing the genetic disease that causes glycogen storage disease type 1A.

US Patent:

51418495, Aug 25, 1992

Filed:

Jun 8, 1990

Appl. No.:

7/536101

Inventors:

Janice Chou - Potomac MD

Assignee:

The United States of America as represented by the Department of Health
and Human Services - Washington DC

International Classification:

C12Q 168
G01N 3353
A61K 3702
C07H 1512

US Classification:

435 6

Abstract:

The present invention relates to a DNA segment comprising linked pregnancy-specific beta. sub. 1 -glycoprotein (PS. beta. G) genes encoding PSGGA protein and PSGGB protein. The invention further relates to a probe (DNA, RNA or peptide probe) specific for PSGGB mRNA or protein expressed in human hydatidiform molar trophoblastic tissue and to a bioassay for the detection of gestational trophoblastic diseases. The PSGGB-specific probes of the present invention hybridized most strongly with RNA from molar trophoblastic tissue, suggesting that the PSGGB-like species may be the gene preferentially expressed in gestational trophoblastic diseases.

US Patent:

20190367944, Dec 5, 2019

Filed:

Jan 30, 2018

Appl. No.:

16/481430

Inventors:

- Bethesda MD, US
Janice J. Chou - North Bethesda MD, US

Assignee:

The U.S.A., as represented by the Secretary, Department of Health and Human Services - Bethesda MD

International Classification:

C12N 15/86
C07K 14/705

Abstract:

Recombinant viruses, such as adeno-associated virus (rAAV) or lentivirus, for the treatment of glycogen storage disease type Ib (GSD-Ib) are described. The recombinant viruses use either the human glucose-6-phosphatase (G6PC) promoter/enhancer (GPE) or the minimal human G6PT promoter/enhancer (miGT) to drive expression of human glucose-6-phosphate transporter (G6PT). The disclosed vectors are capable of delivering the G6PT transgene to the liver and correcting metabolic abnormalities in a murine model of GSD-Ib. The recombinant virus-treated mice maintained glucose homeostasis, tolerated a long fast, and did not elicit anti-G6PT antibodies. Methods of treating a subject diagnosed with GSD-Ib using the recombinant viruses is further described.

US Patent:

20190345502, Nov 14, 2019

Filed:

Jul 30, 2019

Appl. No.:

16/526327

Inventors:

- Bethesda MD, US
Janice J. Chou - North Bethesda MD, US

Assignee:

The U.S.A., as represented by the Secretary, Department of Health and Human Services - Bethesda MD

International Classification:

C12N 15/66
A61K 38/47
A61K 38/00
C12N 15/85
C12N 9/16

Abstract:

Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-α (G6Pase-α) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-α. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.

US Patent:

20190017069, Jan 17, 2019

Filed:

Oct 1, 2018

Appl. No.:

16/148435

Inventors:

- Bethesda MD, US
Janice J. Chou - North Bethesda MD, US

Assignee:

The U.S.A., as represented by the Secretary, Department of Health and Human Services - Bethesda MD

International Classification:

C12N 15/86
A61K 48/00
C12N 7/00
C12N 9/16

Abstract:

The present disclosure describes improved adeno-associated virus (AAV) vectors for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia). Described are recombinant nucleic acid molecules, vectors and recombinant AAV that include a G6PC promoter/enhancer, a synthetic intron, a G6PC coding sequence (such as a wild-type or codon-optimized G6PC coding sequence), and stuffer nucleic acid sequence situated between the G6PC promoter/enhancer and the intron, as well as between the intron and the G6PC coding sequence. The recombinant AAVs disclosed herein exhibit highly efficient liver transduction and are capable of correcting metabolic abnormalities in an animal model of GSD-Ia.

US Patent:

20170362670, Dec 21, 2017

Filed:

Dec 22, 2015

Appl. No.:

15/538852

Inventors:

- Bethesda MD, US
Janice J. Chou - North Bethesda MD, US

Assignee:

The U.S.A., as represented by the Secretary, Department of Health and Human Services - Bethesda MD

International Classification:

C12N 9/16
C12N 15/66
A61K 38/47
A61K 45/06

Abstract:

Modified G6PC (glucose-6-phosphatase, catalytic subunit) nucleic acids and glucose-6-phosphatase-α (G6Pase-α) enzymes with increased phosphohydrolase activity are described. Also described are vectors, such as adeno-associated virus (AAV) vectors, and recombinant AAV expressing modified G6Pase-α. The disclosed AAV vectors and rAAV can be used for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia), and complications thereof.

US Patent:

20170233763, Aug 17, 2017

Filed:

Apr 21, 2017

Appl. No.:

15/493622

Inventors:

- Bethesda MD, US
Janice J. Chou - North Bethesda MD, US

Assignee:

The U.S.A., as represented by the Secretary, Department of Health and Human Services - Bethesda MD

International Classification:

C12N 15/86
A61K 48/00
C12N 9/16
C12N 7/00

Abstract:

The present disclosure describes improved adeno-associated virus (AAV) vectors for gene therapy applications in the treatment of glycogen storage disease, particularly glycogen storage disease type Ia (GSD-Ia). Described are recombinant nucleic acid molecules, vectors and recombinant AAV that include a G6PC promoter/enhancer, a synthetic intron, a G6PC coding sequence (such as a wild-type or codon-optimized G6PC coding sequence), and stuffer nucleic acid sequence situated between the G6PC promoter/enhancer and the intron, as well as between the intron and the G6PC coding sequence. The recombinant AAVs disclosed herein exhibit highly efficient liver transduction and are capable of correcting metabolic abnormalities in an animal model of GSD-Ia.