mouse_skullJuly 7, 2014 — Dr. J. David Sweatt, Professor and Chairman of the Department of Neurobiology at the University of Alabama at Birmingham, has received a research grant from the US National Institute of Mental Health (NIMH) to fund a new project to investigate the molecular and neural basis of Pitt-Hopkins Syndrome (PTHS). The grant, which starts July 15, 2014, totals $1,837,500 over 5 years. Dr. Sweatt exclaimed “I want to thank all of the PTHS families who helped with fundraising for the lab over the last several years. Obtaining this new NIMH research grant was only possible because of the help and financial support of the PTHS families and the PTHS Foundation, which provided the seed funds necessary to allow us to submit a very strong proposal based on the pilot data we generated over the last two years.” Sweatt added “ To my knowledge this is the first PTHS research grant to be funded by the US National Institutes of Health, so this is a very exciting development for the PTHS community.”

The newly funded research in the Sweatt laboratory will capitalize on the recent discovery that PTHS is a neurodevelopmental disorder, the underlying genetic basis of which is mutation/deletion of the TCF4 gene. In their study investigators in the Sweatt lab will undertake comprehensive behavioral testing of genetically engineered PTHS model mice (TCF4 heterozygous deficiency mice) focusing on learning and memory, and investigating whether there is altered function in the neurons of PTHS model mice. In addition the Sweatt lab will test whether a specific category of drugs, histone deacetylase (HDAC) inhibitors, might ameliorate any behavioral and neurophysiologic deficits observed in the mice. Scientists in the Sweatt lab who will be working on the project include Dr. Andrew Kennedy, Dr. Elizabeth Rahn, Dr. Cristin Gavin, and Research Technician Mr. John Lewis. The proposed studies will yield valuable information concerning the Intellectual Disabilities aspect of PTHS, and whether HDAC inhibitors might be a candidate treatment for this aspect of PTHS.