We are thrilled to announce the first conference totally dedicated to the PCDH19 mutation.

 

It will take place in Rome, Italy, the next 9 December and it will be a great opportunity to evaluate the status of the scientific research and the most recent scenarios about the possible therapies. We'll have important speakers, there including prof. Jozef Gecz from the University of Adelaide and dr. Carla Marini from the A. Meyer Childrens' Hospital of Florence. Many others are about to confirm their presence, we'll keep you updated. All the families of PCDH19 girls are warmly invited to participate! It would be fantastic to get to know you all in person, and to be able interact all together with the speakers, to whom the attendees will have the opportunity to ask their own questions. For those who won't be able to participate anyway, we are trying to organize video registrations and a webinar. Further updates will be posted shortly, so please stay tuned!

 

 

[Go to Conference]

WE REACHED OUR GOAL!!!

 

The association managed to get (and fund) a research project headed by prof. Jozef Gecz and approved by our Scientific Committee. Prof. Gecz is part of the group of researchers that in 2008 identified mutations in the gene PCDH19 as the main cause of the disease of our children.

 

[Go to Project]

 

[Go to Contract]

 

Insieme per la Ricerca PCDH19 ("Together for the research on PCDH19 – Non-profit organization") ONLUS aims at:

  • Know more on this rare genetic disease
  • Raise public awareness by spreading information on the disease
  • Support the research, making a reality of the hope of finding a cure to fight this disease
  • Improve the quality of life of children affected by PCDH19 mutation
  • Disclose the few data available in Italian (rare scientific articles and abstracts are published, but only in English)
  • Facilitate communication among the families involved and encourage the exchange of useful information even among professionals and parents of little patients

 

 

The association is in touch with the specialists forming our Scientific Committee and with Prof. Jozef Gécz of the Faculty of Health Sciences in Adelaide.

 

The Scientific Committee is composed by:
Dott.ssa Domenica Battaglia, Policlinico Gemelli, Roma
Dott.ssa Raffaella Cusmai, Ospedale Pediatrico Bambino Gesù, Roma
Dott.ssa Patrizia D'Adamo, Telethon Scientist, Istituto Scientifico San Raffaele, Milano
Dott.ssa Carla Marini, Ospedale Pediatrico Meyer, Firenze
Dott.ssa Maria Passafaro, Consiglio Nazionale delle Ricerche, Roma
Dott.ssa Silvia Russo, Istituto Auxologico Italiano, Milano
Dott. Federico Sicca, Fondazione Stella Maris, Pisa
Dott. Nicola Specchio, Ospedale Pediatrico Bambino Gesù, Roma


 

 

More info:



PCDH19 


http://www.ncbi.nlm.nih.gov/pubmed?term=epilepsy%20PCDH19 

 

 

 

ONLUS INSIEME PER LA RICERCA PCDH19
c/o Francesca Squillante
Via A. Polizano, 8
00184 ROME, ITALY
c.f. 97648430581

 

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