Westley J Friesen - Huntingdon Valley PA, US Nikolai Naryshkin - East Brunswick NJ, US Meenal Patel - Fairless Hills PA, US Charles Romfo - Easton PA, US Ellen Welch - Califon NJ, US Yuki Tomizawa - Edison NJ, US Jin Zhuo - Belle Mead NJ, US
Assignee:
PTC Therapeutics, Inc. - South Plainfield NJ
International Classification:
C12Q 1/68
US Classification:
435 6
Abstract:
The present invention provides compounds and assays for the identification and validation of compounds for use in the treatment of muscular dystrophy (MD), or a form thereof, in which said compounds increase the post-transcriptional expression of a target gene (i. e. , mIGF1, ITGA7, or UTRN).
- South Plainfield NJ, US Yuki Tomizawa - Jersey City NJ, US Priya Vazirani - South Amboy NJ, US
Assignee:
PTC Therapeutics, Inc. - South Plainfield NJ
International Classification:
A61K 31/4245 A61P 25/08 A61K 31/535
Abstract:
Provided herein are methods of treating, preventing, ameliorating or managing a nonsense mutation mediated epileptic disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nonsense mutation mediated epileptic disease. In particular, provided herein are methods of treating, preventing, ameliorating or managing a CDKL5 and/or SCN1A (Dravet syndrome) nonsense mutation mediated epileptic disease.
- South Plainfield NJ, US Yuki Tomizawa - Jersey City NJ, US Priya Vazirani - South Amboy NJ, US
Assignee:
PTC Therapeutics, Inc. - South Plainfield NJ
International Classification:
A61K 31/4245 A61P 25/08
Abstract:
Provided herein are methods of treating, preventing, ameliorating or managing a nonsense mutation mediated epileptic disease, comprising administering a 1,2,4-oxadiazole benzoic acid to a patient having a nonsense mutation mediated epileptic disease. In particular, provided herein are methods of treating, preventing, ameliorating or managing a CDKL5 and/or SCN1A (Dravet syndrome) nonsense mutation mediated epileptic disease.
Feb 2009 to 2000 Associate Scientist IIPTC Therapeutics, Inc. South Plainfield, NJ Feb 2006 to Jan 2009 Associate Scientist IPTC Therapeutics, Inc. South Plainfield, NJ Oct 2000 to Jan 2006 Research Associate IIPTC Therapeutics, Inc. South Plainfield, NJ Oct 2000 to Sep 2001 Research Associate IUniversity of Medicine and Dentistry of New Jersey (UMDNJ) Piscataway, NJ Sep 2000 to Oct 2000 Senior Laboratory TechnicianUniversity of Medicine and Dentistry of New Jersey (UMDNJ) Piscataway, NJ May 2000 to Aug 2000 Laboratory AssistantUniversity of Medicine and Dentistry of New Jersey (UMDNJ) Piscataway, NJ May 1998 to Apr 2000 Student Assistant
Education:
Northeastern University Boston, MA 2009 to 2011 M.S. in Drugs, Biologics and Medical DevicesThe State University of New Jersey Piscataway, NJ Sep 1998 to May 2000 B.A. in Biological SciencesThe City University of New York New York, NY Sep 1996 to Aug 1998 Biological Sciences
Skills:
TECHNICAL BACKGROUND Drug Discovery: Molecular Biology Cloning (genomic DNA, cDNA, site-directed mutagenesis of cDNA, and RACE) RT-PCR, quantitative real-time PCR, and Cells - to - Ct RNA determination DNA and RNA purification Northern blotting Protein purification (recombinant protein) Western blot Enzyme assay in vitro translation assay Primer extension and DNA sequence analysis Chemical footprinting Cell Biology Construction of stable cell lines Cell based reporter gene assay Apoptosis and cell death assay Immunology Meso Scale Discovery formatted ELISA (both cells and tissue samples) ELISA Fluorescence microscopy (immunofluorescence) Immunohistochemistry