基本信息
浏览量:9
![](https://originalfileserver.aminer.cn/sys/aminer/icon/show-trajectory.png)
个人简介
I am the scientific director of the Synaptic Metabolism Laboratory of the Neurology Department at Hospital Sant Joan de Déu in Barcelona.
Our laboratory is focused on the study of neurodevelopmental pathologies from the prism of metabolism. We study the molecular basis of diseases affecting the developing brain, focusing on the metabolic component of its pathophysiology, and how the modulation of these metabolic pathways can be used for their treatment.
Under this axis we study both neurometabolic diseases and "classical" neurodevelopmental disorders. On one hand, neurometabolic diseases include those neuropediatric pathologies in which the primary defect is an error in metabolism, ranging from mitochondrial pathologies to membrane trafficking diseases. Each of these pathologies are also unique study models, which allow us to learn how specific alterations in metabolic fluxes affect cellular homeostasis. On the other hand, and with the knowledge acquired in these diseases, we study the metabolic component of other neurodevelopmental pathologies. A paradigmatic example of this approach is the study of mitochondrial function in Rett Syndrome, a neurodevelopmental pathology due to mutations in the transcriptional regulator MeCP2 in which underlies a defect in mitochondrial homeostasis. The study of this mitochondrial dysfunction will be the basis for new therapeutic options.
The scientific impact of my work can be inferred from my publications and congress communications. In the last five years I have published over 10 original papers and reviews, in half of which I am a main author. All the papers are either in first quartile or decile according to JCR ranking. There are also two more papers currently under review in first decile journals in which I am the last author. I have coordinated the work packages corresponding to HSJD in two Retos Colaboración grants, one of which was recently awarded. Finally, as further explained, I am co-author of a patent under PCT evaluation.
My work has a clear translational character. This is marked from the outset by the environment in which the laboratory is located, Sant Joan de Déu Pediatric Hospital. All the research projects we carry out have as their main objective the treatment of pathologies. In fact, as a result of this work and its translational nature, the Personalized Medicine Service in Neuropediatrics was born from my laboratory, which provides healthcare support to the HSJD. In this service we study in a personalized way the molecular basis of the pathology of each patient, analyzing on which biological pathways we can influence with a therapeutic purpose. The Service was born in 2020 and to date we have studied and treated more than 50 patients.
Another part of this translational character is the technology transfer activities. Based on our experience of the metabolism of the developing brain, we have developed a formula composed of more than 20 nutrients that facilitate brain development. The clinical study in more than 30 patients has demonstrated its efficacy in the management of severe neurodevelopmental pathologies. After a few months of treatment, the patients improved in all the items assessed, such as attention, communication or fine and gross motor skills. This formula is currently in the process of patent protection, and based on it a spin-off of the Hospital Sant Joan de Déu has been created, of which I am co-CEO.
The patient is at the center of my research. As such, the return to the patient is not only reflected in the development of new treatments, but I also organize several meetings with patient associations to update them on our latest advances and design projects with them that respond to their needs. I coordinate the annual meeting "Rett syndrome, from the patient to the laboratory" and participate in the annual meeting of neurotransmitter diseases organized by the association "DeNeu".
I run a highly collaborative group, both national and internationally. The HSJD neurometabolic unit is a Reference Center for the diagnosis and treatment of metabolic and neurotransmitter diseases (CSUR) and Rett syndrome. We collaborate regularly with other research centers such as IBEC (Institute of Bioengineering of Catalonia), CEDEM (Diagnostic Center for Molecular Diseases) or the University of Barcelona. In addition, we belong to national and international networks such as CIBERER or MetabERN.
Finally, the laboratory has an important training activity. In the last years we have supervised more than 7 Master's Thesis (mostly from the Master in Genetics of the University of Barcelona and the Master in Neurosciences of the Autonomous University of Barcelona). In addition, I am currently supervising two doctoral theses ascribed to the PhD program in Biomedicine at the University of Barcelona.
研究兴趣
论文共 27 篇作者统计合作学者相似作者
按年份排序按引用量排序主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Natalia Juliá-Palacios,Mireia Olivella, Mariya Sigatullina Bondarenko,Salvador Ibáñez-Micó,Beatriz Muñoz-Cabello,Olga Alonso-Luengo, Víctor Soto-Insuga,Deyanira García-Navas, Laura Cuesta-Herraiz, Patricia Andreo-Lillo, Sergio Aguilera-Albesa,Antonio Hedrera-Fernández,
Brain : a journal of neurologyno. 5 (2024): 1653-1666
Uliana Musokhranova,Cristina Grau,Cristina Vergara,Laura Rodríguez-Pascau,Clara Xiol, Alba A. Castells,Soledad Alcántara,Pilar Rodríguez-Pombo,Pilar Pizcueta,Marc Martinell, Angels García-Cazorla,Alfonso Oyarzábal
Journal of translational medicineno. 1 (2023): 1-17
IBRO Neuroscience Reports (2023): S552-S552
Maria Justel,Cristina Jou,Andrea Sariego-Jamardo,Natalia Alexandra Juliá-Palacios,Carlos Ortez, Maria Luisa Poch,Antonio Hedrera-Fernandez, Hilario Gomez-Martin,Anna Codina,Jana Dominguez-Carral,Jordi Muxart,Aurelio Hernández-Laín,
Journal of medical genetics (2023)
Sofía Illescas,Yaiza Diaz-Osorio, Anna Serradell, Lucía Toro-Soria,Uliana Musokhranova,Natalia Juliá-Palacios,Juliana Ribeiro-Constante,Xavier Altafaj,Mireia Olivella,Mar O'Callaghan,Alejandra Darling,Judith Armstrong,
IBRO Neuroscience Reports (2023): S583-S583
加载更多
作者统计
合作学者
合作机构
D-Core
- 合作者
- 学生
- 导师
数据免责声明
页面数据均来自互联网公开来源、合作出版商和通过AI技术自动分析结果,我们不对页面数据的有效性、准确性、正确性、可靠性、完整性和及时性做出任何承诺和保证。若有疑问,可以通过电子邮件方式联系我们:report@aminer.cn