Jennifer L Silhavy

US Patent:

20120278909, Nov 1, 2012

Filed:

Apr 29, 2011

Appl. No.:

13/098345

Inventors:

Joseph G. GLEESON - San Diego CA, US
Jennifer SILHAVY - San Diego CA, US
Enza Maria VALENTE - Rome, IT
Francesco BRANCATI - Rome, IT

Assignee:

THE REGENTS OF THE UNIVERSITY OF CALIFORNIA - Oakland CA

International Classification:

A01K 67/00
C40B 30/00
C12Q 1/68
G01N 33/53
C12N 1/21
C07K 14/47
C07K 16/18
C12N 5/10
C12N 1/19
C12N 15/63
C07H 21/04

US Classification:

800 13, 4353201, 506 7, 435 612, 436501, 435 611, 536 235, 530350, 530324, 5303879, 5303873, 435366, 435325, 435348, 435419, 4352542, 4352523

Abstract:

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS. In alternative embodiments, the invention provides cells, cell lines and/or non-human transgenic animals that can be used as screening or model systems for studying ciliopathies and testing various therapeutic approaches in treating ciliopathies, e.g., JS, JSRD or MKS.

US Patent:

20140072975, Mar 13, 2014

Filed:

Nov 13, 2013

Appl. No.:

14/079397

Inventors:

Jennifer SILHAVY - San Diego CA, US
Enza Maria VALENTE - Rome, IT
Francesco BRANCATI - Rome, IT
Bruno DALLAPICCOLA - Rome, IT

Assignee:

THE REGENTS OF THE UNIVERSITY OF CALIFORNIA - Oakland CA

International Classification:

C12Q 1/68

US Classification:

435 611

Abstract:

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS.

US Patent:

20210025004, Jan 28, 2021

Filed:

Sep 3, 2020

Appl. No.:

17/011785

Inventors:

- Oakland CA, US
Jennifer SILHAVY - San Diego CA, US
Enza Maria VALENTE - Rome, IT
Francesco BRANCATI - Rome, IT

International Classification:

C12Q 1/6883
G01N 33/68
C07K 14/47
C07K 16/28

Abstract:

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a. cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS. an alternative embodiments, the invention provides cells, cell lines and/or non-human transgenic animals that can be used as screening or model systems for studying ciliopathies and testing various therapeutic approaches in treating ciliopathies, e.g., JS, JSRD or MKS.

US Patent:

20180195126, Jul 12, 2018

Filed:

Dec 12, 2017

Appl. No.:

15/839096

Inventors:

- Oakland CA, US
Jennifer SILHAVY - San Diego CA, US
Enza Maria VALENTE - Rome, IT
Francesco BRANCATI - Rome, IT

International Classification:

C12Q 1/6883
G01N 33/68
C07K 16/28
C07K 14/47

Abstract:

In alternative embodiments, the invention provides nucleic acid sequences that are genetic polymorphic variations of the human TMEM216 gene, and TMEM216 polypeptide encoded by these variant alleles. In alternative embodiments, the invention provides methods of determining or predicting a predisposition to, or the presence of, a ciliopathy (or any genetic disorder of a cellular cilia or cilia anchoring structure, basal body or ciliary function) in an individual, such as a Joubert Syndrome (JS), a Joubert Syndrome Related Disorder (JSRD) or a Meckel Syndrome (MKS). In alternative embodiments, the invention provides compositions and methods for the identification of genetic polymorphic variations in the human TMEM216 gene, and methods of using the identified genetic polymorphisms and the proteins they encode, e.g., to screen for compounds that can modulate the human TMEM216 gene product, and possibly treat JS, JSRD or MKS. In alternative embodiments, the invention provides cells, cell lines and/or non-human transgenic animals that can be used as screening or model systems for studying ciliopathies and testing various therapeutic approaches in treating ciliopathies, e.g., JS, JSRD or MKS.