Full Name
Marcela Ciccioli
Job title
Presidente
Affiliation
Stargardt APNES- RETINA ARGENTINA/ Universidad de Buenos Aires/ Universidad Católica Argentina
Speaker bio
Marcela Ciccioli has a degree in Biological Science with Genetic Orientation from Facultad de Ciencias Exactas y Naturales of the University of Buenos Aires and is a specialist in Medical Molecular Biology by Facultad de Farmacia y Bioquímica by the University of Bs.As. She took courses in population genetics, molecular biology, and bioethics at Facultad de Ciencias Exactas y Naturales of the University of Buenos Aires and Favaloro University. She is part of the professors ‘team of PANIRD (Panamerican Inherited Retinal Dystrophies Group) which is a group of experts in different disciplines related to hereditary
retinal dystrophies in the USA and Latin America.
Since 2010 she has been part of a patient association: the Association of Parents of Children with Stargardt Disease- RETINA Argentina, and she has chaired it since the end of 2015. She has developed IRDs patient genetic identification tasks and developed different genetic sequencing agreementsto reach the genetic identification of patients with inherited retinal and optic nerve dystrophies in Argentina. She managed the Agreement between the Ministry of Science, Technology and Productive Innovation of the Nation focused on Stargardt disease, the Agreement between Spark Therapeutics and the Bosch i Gimpera Foundation of the University of Barcelona aimed at the population with Leber congenital amaurosis and she has managed the Agreement between DBGen of the University of Barcelona and the patient association to carry out the sequencing of patients with all types of hereditary retinal dystrophies and optical nerve diseases.
She is part and founder of the Argentine Federation of Rare Diseases (FADEPOF). She is a founding member and part of the Board of Retina Iberoamerica and represents Retina Argentina at Retina International.
Marcela Ciccioli represents Stargardt APNES- Retina Argentina within Red APTA (Argentine Network of Patients for Advanced Therapies), a platform of the Ministry of Science and Technology from which the participation and follow-up of the first 10 Argentine patients to receive gene therapy for LHON at the Chinese clinical trial directed by Prof. Li in Huazhong University.
This project was the only one in the world carried out by a patient association, selected by the Wellcome Trust and the Bill and Melinda Gates Foundation to be presented at the Global Forum of Bioethics in Research in Singapore 2019, as an example of coordination between researchers, state and association of patients to access at advanced therapies in countries of medium and low incomes.
During the last months, Argentinian patient candidates for Luxturna who were identified since 2016 and are part of the Stargardt APNES-Retina Argentina Database, were patronage by the patient association to reach the treatment; and begin the possibility to apply gene therapy in Argentina.
Marcela Ciccioli currently coordinates the course on Ocular Genetics for Ophthalmologists at the Argentine Catholic University and continues as Professor of Genetics for the Medical Specialist in Ophthalmology Career at the National University of Rosario.
retinal dystrophies in the USA and Latin America.
Since 2010 she has been part of a patient association: the Association of Parents of Children with Stargardt Disease- RETINA Argentina, and she has chaired it since the end of 2015. She has developed IRDs patient genetic identification tasks and developed different genetic sequencing agreementsto reach the genetic identification of patients with inherited retinal and optic nerve dystrophies in Argentina. She managed the Agreement between the Ministry of Science, Technology and Productive Innovation of the Nation focused on Stargardt disease, the Agreement between Spark Therapeutics and the Bosch i Gimpera Foundation of the University of Barcelona aimed at the population with Leber congenital amaurosis and she has managed the Agreement between DBGen of the University of Barcelona and the patient association to carry out the sequencing of patients with all types of hereditary retinal dystrophies and optical nerve diseases.
She is part and founder of the Argentine Federation of Rare Diseases (FADEPOF). She is a founding member and part of the Board of Retina Iberoamerica and represents Retina Argentina at Retina International.
Marcela Ciccioli represents Stargardt APNES- Retina Argentina within Red APTA (Argentine Network of Patients for Advanced Therapies), a platform of the Ministry of Science and Technology from which the participation and follow-up of the first 10 Argentine patients to receive gene therapy for LHON at the Chinese clinical trial directed by Prof. Li in Huazhong University.
This project was the only one in the world carried out by a patient association, selected by the Wellcome Trust and the Bill and Melinda Gates Foundation to be presented at the Global Forum of Bioethics in Research in Singapore 2019, as an example of coordination between researchers, state and association of patients to access at advanced therapies in countries of medium and low incomes.
During the last months, Argentinian patient candidates for Luxturna who were identified since 2016 and are part of the Stargardt APNES-Retina Argentina Database, were patronage by the patient association to reach the treatment; and begin the possibility to apply gene therapy in Argentina.
Marcela Ciccioli currently coordinates the course on Ocular Genetics for Ophthalmologists at the Argentine Catholic University and continues as Professor of Genetics for the Medical Specialist in Ophthalmology Career at the National University of Rosario.
Speaking At
