There is fantastic news for the treatment of PCDH19 Epilepsy. The University of Adelaide reports on the work of Prof. Josef Gecz, whose PCDH19 research has been supported with the help of our partner organization, Insieme per la Ricerca PCDH19 (Together for PCDH19 Research) in Italy. We are grateful that our partners recognized the potential for a promising drug treatment in Prof. Gecz's work and put their resources toward supporting him.
From the press release:
An international team, led by a University of Adelaide genetics expert, has made a breakthrough discovery which is expected to help thousands of young girls worldwide who are suffering from a rare yet debilitating form of epilepsy. Professor Jozef Gecz, from the University of Adelaide’s Robinson Research Institute, was a key player in identifying the responsible gene and mutations in this female-only epileptic syndrome, in 2008. In breakthrough research published in Oxford Journals, Human Molecular Genetics, Professor Gecz has now found a treatment for this disorder. A United States pharmaceutical company Marinus Pharmaceuticals is now recruiting affected girls as part of the world’s first clinical trial to test the therapy.