6 de febrero de 2023

Comité evaluador Convocatoria Ayuda 2022

Dra. Erika Takle Axeen is a pediatric epileptologist at the University of Virginia. She has a particular interest in the clinical diagnosis and management of genetic epilepsies. Dr. Axeen published her results of a caregiver survey of 82 participants diagnosed with GNAO1 in 2021. In partnership with the Bow Foundation she is working to expand upon her parental survey with a more detail retrospective natural history study with an emphasis on understanding the spectrum of epilepsy within GNAO1.

Dr. Ruben Hernandez-Alcoceba. Graduated in Medicine (Reus, Spain, 1994) and PhD in Autonomous University of Madrid (Spain, 1998), received his post-doctoral training in the field of oncolytic adenoviruses from the University of Michigan (Ann Arbor, MI, USA, 1998-2002). He joined the University of Navarra (Pamplona, Spain) in 2003 as a researcher. Since then he works in the design and evaluation of gene therapy vector for cancer and genetic diseases.

Dr. Simone Martinelli, PhD holds a Master Degree in Biological Sciences (1998) and a PhD in Medical Genetics (2003) at the “Sapienza” University of Rome. Since then, he has worked at the National Institute of Health (ISS) and contributed to the discovery of several genes underlying neurodevelopmental disorders. Actually, Dr. Martinelli is a researcher and team leader at ISS (Dept. Oncology and Molecular Medicine, C. elegans Unit).

Dr. Harald Mikkers is a molecular stem cell biologist associated to the Leiden University Medical Center. His research focuses on modelling of the GNAO1 disorder using patient-derived induced pluripotent stem cells to gain insight into the mechanisms underlying the heterogeneous pathogenesis of GNAO1 and to develop new therapies.

Dr. Juan Dario Ortigoza-Escobar Current Head of the Movement Disorder Unit of Sant Joan de Déu Hospital in Barcelona, Spain. Coordinator of the Chorea and Huntington’s Disease Group and the Pediatric Issues Working Group of the European Reference Network for Rare Neurological Disorders (ERN-RND).

Dra. Paula Río is the Head of the Bone Marrow Aplasias Unit (Division of Hematopoietic Innovative Therapies, CIEMAT/CIBERER/IIS-FJD, UAM; Madrid, Spain). She has been working in Gene Therapy for Fanconi anemia for more than 20 years using lentiviral vectors and gene editing. Nowadays she is deeply involved as Associated investigator in two different clinical trials focused on the correction of HSCs from Fanconi anemia A patients (FANCOLEN, Eudra CT: 2011-006100-12 and FANCOLEN II EudraCT 2018-002502-31).