Sylvia L Anderson

US Patent:

7872042, Jan 18, 2011

Filed:

May 13, 2005

Appl. No.:

11/128492

Inventors:

Berish Y. Rubin - Monsey NY, US
Sylvia L. Anderson - Cresskill NJ, US

International Classification:

A01N 43/16
A61K 31/35
A61K 31/355
C07D 311/00

US Classification:

514456, 514458, 549398, 549406

Abstract:

The present invention provides methods for elevating IKBKAP gene expression and the level of functional IKAP protein in cells, which are beneficial to human individual, such as an individual suffering from Familial Dysautonomia, by providing one or more tocotrienols alone or in combination with one or more tocopherols to the cells. The present invention also provides methods for treating Familial Dysautonomia by providing tocotrienols alone or in combination with one or more tocopherols to a patient having Familial Dysautonomia. Related therapeutic kits are also provided.

US Patent:

20020168656, Nov 14, 2002

Filed:

Jan 16, 2002

Appl. No.:

10/050189

Inventors:

Berish Rubin - Monsey NY, US
Sylvia Anderson - Dumont NJ, US

International Classification:

C12Q001/68

US Classification:

435/006000

Abstract:

A method for detecting the presence in a subject of a polymorphism linked to a gene associated with familial dysautonomia, said method comprising detecting a disruptive mutation in a gene of said subject encoding the I B kinase-complex-associated protein, and, preferably, detecting a T→C change in position 6 of the donor splice site of intron 20 and/or a G→C transversion of nucleotide 2390 in exon 19 of the gene encoding the I B kinase-complex-associated protein which is present on chromosome 9q31. Also disclosed are oligonucleotide primers useful in the detection method. This abstract is provided to comply with the rules requiring an abstract that will allow a searcher or other reader to ascertain quickly the subject matter of the technical disclosure. It is submitted with the understanding that it will not be used to interpret or limit the scope or meaning of the claims. 37 CFR 1.72(b).

US Patent:

20060069045, Mar 30, 2006

Filed:

Sep 7, 2005

Appl. No.:

11/221130

Inventors:

Berish Rubin - Monsey NY, US
Sylvia Anderson - Cresskill NJ, US

International Classification:

A61K 31/7048
A61K 31/353
A61K 31/355

US Classification:

514027000, 514456000, 514458000

Abstract:

The present invention provides methods for modulating mRNA splicing in a normal or diseased cell or individual, e.g., elevating wild-type IKBKAP transcripts and the level of functional IKAP protein in an individual suffering from Familial Dysautonomia, by providing catechins, such as EGCG, to the cell or individual. The present invention also provides methods for treating Familial Dysautonomia by providing EGCG-related catechins to an individual having Familial Dysautonomia. Related therapeutic kits are also provided.

US Patent:

20060240461, Oct 26, 2006

Filed:

Apr 20, 2006

Appl. No.:

11/407747

Inventors:

Berish Rubin - Monsey NY, US
Sylvia Anderson - Cresskill NJ, US

International Classification:

C12Q 1/68

US Classification:

435006000

Abstract:

The present invention provides identification of a mutation related to the nebulin gene (NEB), which can cause nemaline myopathy (NM). The present invention also provides a method for detecting such mutation in a human cell or individual, such as an NM-derived cell or an individual suffering from NM. The present invention further provides a program to screen an individual has NM or is a carrier of NM. Related detection or diagnosing kit is also provided.

US Patent:

20100291552, Nov 18, 2010

Filed:

Dec 19, 2008

Appl. No.:

12/339581

Inventors:

Berish Rubin - Monsey NY, US
Sylvia L. Anderson - Dumont NJ, US

International Classification:

C12Q 1/68
C07H 21/04

US Classification:

435 6, 536 2433

Abstract:

A method for detecting the presence in a subject of a polymorphism linked to a gene associated with familial dysautonomia, said method comprising detecting a disruptive mutation in a gene of said subject encoding the IκB kinase-complex-associated protein, and, preferably, detecting a T→C change in position 6 of the donor splice site of intron 20 and/or a G→C transversion of nucleotide 2390 in exon 19 of the gene encoding the IκB kinase-complex-associated protein which is present on chromosome 9q31. Also disclosed are oligonucleotide primers useful in the detection method. This abstract is provided to comply with the rules requiring an abstract that will allow a searcher or other reader to ascertain quickly the subject matter of the technical disclosure. It is submitted with the understanding that it will not be used to interpret or limit the scope or meaning of the claims.

US Patent:

20100298425, Nov 25, 2010

Filed:

Jul 7, 2010

Appl. No.:

12/831648

Inventors:

Berish Y. Rubin - Monsey NY, US
Sylvia L. Anderson - Cresskill NJ, US

International Classification:

A61K 31/352
C12N 5/07
A61K 31/355
A61P 25/00

US Classification:

514458, 435375, 514456

Abstract:

The present invention provides methods for elevating IKBKAP gene expression and the level of functional IKAP protein in cells, which are beneficial to human individual, such as an individual suffering from Familial Dysautonomia, by providing one or more tocotrienols alone or in combination with one or more tocopherols to the cells. The present invention also provides methods for treating Familial Dysautonomia by providing tocotrienols alone or in combination with one or more tocopherols to a patient having Familial Dysautonomia. Related therapeutic kits are also provided.

US Patent:

20110201679, Aug 18, 2011

Filed:

Jan 14, 2011

Appl. No.:

13/007349

Inventors:

Berish Y. Rubin - Monsey NY, US
Sylvia L. Anderson - Cresskill NJ, US

International Classification:

A61K 31/352
C12Q 1/68
C12Q 1/02
C07D 311/72
A61P 25/28

US Classification:

514456, 435 613, 435 29, 549408

Abstract:

The present invention provides methods for elevating IKBKAP gene expression and the level of functional IKAP protein in cells, which are beneficial to human individual, such as an individual suffering from a neurodegenerative disease or disorder such as Familial Dysautonomia, by providing one or more tocotrienols alone or in combination with one or more tocopherols to the cells. The present invention also provides methods for treating neurodegenerative diseases or disorders by providing tocotrienols alone or in combination with one or more tocopherols to a patient having a neurodegenerative disease such as Alzheimer's disease, Huntington's disease, amylotrophic lateral sclerosis as well as age-related cognitive decline. Related therapeutic kits are also provided.

US Patent:

20110229899, Sep 22, 2011

Filed:

Apr 19, 2011

Appl. No.:

13/090028

Inventors:

BERISH RUBIN - MONSEY NY, US
SYLVIA L. ANDERSON - DUMONT NJ, US

International Classification:

C12Q 1/68
C07H 21/04

US Classification:

435 612, 536 2433, 435 61

Abstract:

A method for detecting the presence in a subject of a polymorphism linked to a gene associated with familial dysautonomia, said method comprising detecting a disruptive mutation in a gene of said subject encoding the IκB kinase-complex-associated protein, and, preferably, detecting a T→C change in position 6 of the donor splice site of intron 20 and/or a G→C transversion of nucleotide 2390 in exon 19 of the gene encoding the IκB kinase-complex-associated protein which is present on chromosome 9q31. Also disclosed are oligonucleotide primers useful in the detection method. This abstract is provided to comply with the rules requiring an abstract that will allow a searcher or other reader to ascertain quickly the subject matter of the technical disclosure. It is submitted with the understanding that it will not be used to interpret or limit the scope or meaning of the claims.