New York State Institute for Basic Research

Effects of Alternative Splicing at FMR1 Exon 15 on Understanding Fragile X Syndrome

FRAXA Research Foundation 2006-2010 Grants • Completed Research Grants • Denman, Robert • Disease Mechanisms • New York State Institute for Basic Research • Treatment Targets February 14, 2008January 14, 2019mRNAs

With a $118,500 grant from FRAXA Research Foundation from 2007-2008, Dr. Robert Denman and his team at the New York State Institute for Basic Research studied protein splicing, specifically looking at exon 15-encoded residues of of FMPR.

Molecular Basis of Increased Seizure Severity in the Fragile X Knockout Mouse

FRAXA Research Foundation 2001-2005 Grants • Disease Mechanisms • Dobkin, Carl • El Idrissi, Abdeslem • New York State Institute for Basic Research • Research Grant Results February 26, 2003May 14, 2020GABA, NIH, seizure, sound

With a $50,000 grant from FRAXA Research Foundation from 2002-2003, Dr. Carl Dobkin and his team at the New York Institute for Basic Research studied the causes for heightened seizure activity in Fragile X mice. Results published.

Isolating and Characterizing the mRNAs That Bind FMRP

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grants • Denman, Robert • Disease Mechanisms • New York State Institute for Basic Research • Treatment Targets January 14, 2003December 12, 2019mRNAs

With $60,000 in grants from FRAXA Research Foundation from 1998-1999, Dr. Robert Denman and his team at the New York State Institute for Basic Research explored how FMRP possibly functions.

Prospects For Gene Therapy in the Fragile X

FRAXA Research Foundation 1994-2000 Grants • 2001-2005 Grants • Completed Research Grants • Genetic Rescue • New York State Institute for Basic Research • Rattazzi, Mario February 27, 2002August 13, 2018Adeno-associated virus, cancer, TAT (Trans-Activator of Transcription)

With a $90,000 grant from FRAXA Research Foundation from 2000-2002, Dr. Mario Rattazzi at the New York State Institute for Basic Research explored gene therapy: ways to transfer the FMR1 gene across the blood-brain-barrier in normal rats and mice, and then in FMR1 knockout mice. Results published.

Studies of the Fragile X Knock-Out Mouse: Improving Memory Reversal Testing and Treatment with AMPAkines

FRAXA Research Foundation 1994-2000 Grants • Completed Research Grants • New York State Institute for Basic Research • Treatment Targets June 27, 1998December 10, 2019AMPA, AMPAkines

A two year $62,000 FRAXA grant was been awarded to W. Ted Brown, MD, PhD from 1997-1998. The Principal Investigator at the Institute For Basic Research in New York will work to develop an improved test to show learning deficits in the FMR1 knock-out mouse model of Fragile X, and then to test the effects of experimental drugs (Ampakines) that may be effective in treating these deficits.