IP Library Granted Patent US 10,202,647
Granted Patent B2
US 10,202,647 · App. 14/783,078 · Granted Feb 12, 2019

Mutations in DSTYK cause dominant urinary tract malformations

Inventors: Ali Gharavi (New York, NY); Simone Sanna-Cherchi (New York, NY)
Assignee: The Trustees of Columbia University in the City of New York
C12Q1/6883C07K16/40C12N15/1137G01N33/573C12N2310/14C12N2320/30C12Q2600/156C12Q2600/158C12Q2600/16G01N2333/91G01N2333/912G01N2800/34G01N2800/347
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Quick Facts
Patent No.
US 10,202,647
App. No.
14/783,078
Granted
Feb 12, 2019
Kind
B2
Abstract

Congenital abnormalities of the kidney or the urinary tract (CAKUT) are the most common cause of pediatric kidney failure. These disorders are highly heterogenous, and their etiology is poorly understood. Dual serine/threonine and tyrosine protein kinase (DSTYK) mutations were detected in 2.2% of patients with congenital abnormalities of the kidney and urinary tract, suggesting that DSTYK is a major determinant of human urinary development, downstream of fibroblast growth factor (FGF) signaling. Methods and kits are provided for identifying and treating subjects at greater risk of developing CAKUT based on the presence of DSTYK mutations. Techniques include obtaining a biological sample from a subject and determining if the biological sample indicates a mutation of a gene for DSTYK. If it is determined that the biological sample indicates the mutation of the gene for DSTYK, then it is determined that the subject has or is at risk of developing CAKUT.

Claims (2)

1. A method for treating cancer in a subject comprising introducing siRNA that hybridizes specifically to target nucleotides of the dual serine/threonine and tyrosine protein kinase (DSTYK) gene, wherein the cancer is selected from the group consisting of: lung cancer, endometrial cancer, estrogen receptor (ER)-positive breast cancer, diffuse-type gastric cancer, triple-negative breast cancer, 8p11 myeloproliferative syndrome, alveolar rhabdomyosarcoma, peripheral T-cell lymphoma, glioblastoma multiforme, endometrial uterine cancer and melanoma, invasive bladder tumors, and rhabdomyosarcoma.

2. The method of claim 1 , wherein the subject has been determined to harbor a dual serine/threonine and tyrosine protein kinase (DSTYK) mutation.

Assignments (2)
ASSIGNMENT OF ASSIGNOR'S INTEREST Recorded Dec 10, 2018
From: GHARAVI, ALI; SANNA-CHERCHI, SIMONE
To: THE TRUSTEES OF COLUMBIA UNIVERSITY IN THE CITY OF NEW YORK
Reel/Frame 047729/0207 →
CONFIRMATORY LICENSE Recorded Oct 25, 2016
From: COLUMBIA UNIV NEW YORK MORNINGSIDE
To: NATIONAL INSTITUTES OF HEALTH (NIH), U.S. DEPT. OF HEALTH AND HUMAN SERVICES (DHHS), U.S. GOVERNMENT
Reel/Frame 040473/0203 →
Continuity (2)
Provisional Application 61811365 · Apr 12, 2013
Related Publication 20160040238A1 · Feb 11, 2016