RESEARCH

We Have the Will. There is a Way.

The PCDH19 Alliance is dedicated to vetting and supporting the most promising research. We fund ongoing research into the PCDH19 gene and potential treatments, and every day we move closer to fulfilling our mission to find a cure. Below is information on the latest scientific news, our registry, and our research grant program.
MAKE A DONATION

Research Grant Program

The PCDH19 Alliance Research Grant Program awards one year grants between $25,000 and $75,000.
Learn More

Call For Abstracts

The 2016 PCDH19 Epilepsy Professional & Symposium (June 4 & 5) encourages interactions between basic and clinical scientists. Applications from fellows and students are welcome. Please send submissions and questions to  julie@pcdh19info.org
LEARN MORE

The PCDH19 Epilepsy Registry

Researchers at Boston Children’s Hospital are running a registry for individuals with PCDH19-Related Epilepsy. Your participation could help us find a cure.
ENROLL NOW

Alliance-Funded Research

Thanks to your generous donations we are proud to invest in the most promising PCDH19 Research around the world. These research teams are currently focused on understanding why mutations in the PCDH19 gene can cause epilepsy, autism and other co-morbidities of PCDH19 Epilepsy.

maria_passafaro

Unraveling the Molecular Mechanisms of PCDH19 in Cultured Neurons and in PCDH19 KO Mouse Model
“PCDH19 is a severe disease characterized by onset of epileptic seizures in infancy, intellectual disability and autism. The condition is caused by mutations in the PCDH19 gene present on X chromosome. PCDH19 codes for the protein protocadherin-19. Protocadherins are cell adhesion molecules involved in establishing connections between neurons. Our preliminary findings suggest that protocadherin-19 regulates the trafficking of GABA(A)Rs to synapses. GABA(A)Rs mediate fast inhibitory transmission in the brain. If GABA(A)R presence at synapses is affected, the correct balance between inhibition and stimulation of neurons is upset, possibly giving rise to epilepsy and disorders of neurodevelopment. However details of PCDH19’s function in brain are largely unknown. We propose to investigate the role of PCDH19 in mammalian neurons and neuronal circuits, by working both with cultured neurons and with animal models in which PCDH19 has been mutated in a subset of brain cells. Our study will help us better understanding how the mutation gives rise to dysfunction at the synapse, in the neuron, and in neuronal circuits, in order to guide the future development of treatments for the disease.”

j_gecz_square

In Vivo Investigation of the Cellular Interference Model Using Unique PCDH19 Mouse Model and Brain Tissue from a PCDH19 Affected Female
“Changes in the PCDH19 gene cause epilepsy and, in some cases, intellectual disability. An unusual and poorly understood feature of PCDH19-associated epilepsy is that it only affects girls. To investigate the underlying cause of PCDH19-associated epilepsy, we have developed Pcdh19 mouse models that mimic the genetic changes that cause epilepsy in girls and allow us to identify neurons in which the PCDH19 gene is active. We have recently found that PCDH19 is active in a subset of neurons that are responsible for “dampening down” electrical activity in the brain. We have also shown that changes in the Pcdh19 gene in female mice affect neuron connections. The aim of this project is to further investigate these preliminary results through detailed analysis of brain development and function in our mouse models. We will also begin to translate our research findings into a clinical context through analysis of a brain sample from an affected female. These experiments will lead to greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.”

Researchers at Boston Children’s Hospital are currently putting together a registry for individuals with PCDH19-Related Epilepsy. The registry is an important tool to help researchers gain a better understanding of PCDH19-Related Epilepsy and ultimately develop more effective treatment options. If you or your child has been diagnosed with PCDH19-Related Epilepsy, your participation could help advance the knowledge of PCDH19-Related Epilepsy! 
In creating and maintaining a meaningful registry of patients with PCDH19-related epilepsy, our shared goals are to better understand the full range of clinical features that are associated with PCDH19 (including epilepsy and behavioral aspects) and to provide a resource of natural history data. As the promise of gene-specific medication is now on the horizon for epilepsy, it is critical that the PCDH19 phenotype be well defined so that there can be clear goals and outcomes to measure in any future clinical trial.
Click here to learn more and enrol.

 

Identifying the pathological mechanicsm of PCDH19 Epilepsy
“Changes in the PCDH19 gene cause epilepsy and, in some cases, intellectual disability. An unusual and poorly understood feature of PCDH19-associated epilepsy is that it only affects girls. To investigate the underlying cause of PCDH19 associated epilepsy, we have developed Pcdh19 mouse models that mimic the genetic changes that cause epilepsy in girls and allow us to identify neurons in which the PCDH19 gene is active. We have recently found that PCDH19 is active in a subset of neurons that are responsible for “dampening down” electrical activity in the brain. We have also shown that changes in the Pcdh19 gene in female mice affect neuron connections. The aim of this project is to further investigate these preliminary results through detailed analysis of brain development and function in our mouse models. We will also begin to translate our research findings into a clinical context by looking for subtle changes in brain structure in affected girls. These experiments will lead to greater understanding of how changes in PCDH19 cause epilepsy in girls and facilitate the development of new treatments.”

Using IPS cells to understand PCDH19- related encephalopathy
Dr Pasca’s group is leveraging a novel technique developed in his lab at Stanford University for growing in a dish a functional tridimensional human cortex to probe synaptic function– or how cells talk to each other. Dr Pasca will use his PCDH19 Alliance Award to develop 3D cultures starting from stem cells derived non-invasively from patients with mutations in PCDH19. Using this system, his laboratory will look in detail at the molecular and cellular processes that go awry in this disease with the ultimate goal of finding therapeutic targets.
Looking for more information on research? PubMed has it all. Click on the button below to go to a list of almost every published scientific articles on PCDH19. When you get to the list, it is arranged by date published, with the newest date first, so be sure to scroll through the multiple pages, to get to older articles.
VISIT PUBMED

The best way to stay up to date on the latest news
and research is to join our mailing list.

SIGN UP NOW