BALTIMORE—July 27, 2016—The Lieber Institute for Brain Development (LIBD) and the Brace Cove Health Fund announce a partnership to advance molecular research on Pitt Hopkins syndrome (PTHS). There are currently no medications available to treat the deficits associated with PTHS, which is characterized by developmental delay, communication deficits, low muscle tone, seizure, constipation and breathing anomalies.
A recent publication from Dr. Brady Maher’s lab used a novel approach in rodent models to identify specific proteins that represent potential therapeutic targets for PTHS. Furthermore, the Lieber Institute scientists show that by blocking these proteins, neuronal abnormalities related to the Pitt Hopkins gene can be reversed.
The grant, awarded by the Brace Cove Health Fund, aims to further characterize and evaluate the molecular biology of PTHS. Lieber scientists will determine whether the observations made in rodent models also occur in patient-derived neurons and whether blocking these proteins restores neuronal function. The Lieber Institute is collaborating with Dr. Stephen Haggerty at Harvard University, who with the help of the Pitt Hopkins Clinic at Massachusetts General Hospital has built the largest repository of PTHS tissue samples for research. Results from this collaboration could lead to novel therapeutic targets and potential treatment options for individuals with Pitt Hopkins Syndrome and related disorders.
For more information about the Pitt Hopkins Clinic at MGH, visit: http://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1849.
About the Brace Cove Health Fund
Brace Cove Health Fund is a donor-advised fund which supports non-profit institutions with an emphasis on clinical care and research relevant to Pitt Hopkins Syndrome. For more information see http://www.pitthopkinscare.org.
About the Lieber Institute for Brain Development
The mission of the Lieber Institute for Brain Development and the Maltz Research Laboratories is to translate the understanding of basic genetic and molecular mechanisms of schizophrenia and related developmental brain disorders into clinical advances that change the lives of affected individuals. LIBD is an independent, not-for-profit 501(c)(3) organization and a Maryland tax-exempt medical research institute affiliated with the Johns Hopkins University School of Medicine. For more information please visit: www.libd.org.