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H2020Staff exchange2017–2022

LysoMod · Genetic and Small Molecule Modifiers of Lysosomal Function

Horizon 2020 — Marie Skłodowska-Curie Actions

Duration
2017-03-01 → 2022-08-31
EU contribution
€1,102,500
Participants
14
Scheme
MSCA-RISE

Lines connect the coordinator with its partners.

Results in brief

Genetic and Small Molecule Modifiers of Lysosomal Function

The LysoMod project contributed innovations in the area of personalized medicine for disorders linked to lysosomal dysfunction (both rare and common) by implementing an international staff-exchange program between highly complementary and multidisciplinary academic experts and non-academic partners. Research over the past decades has clearly shown that as new aspects of lysosomal biology are revealed, new therapeutic strategies can be devised, in most cases based on the manipulation of specific molecular pathways. In summary, the LysoMod project has 1) identified genetic variation that may explain why different patients with the same causative mutation (including siblings) present a wide range of clinical symptoms; 2) demonstrated that acetyl-leucine (a derivative of amino acid leucine) exerts a neuroprotective effect in mouse models and in patients with lysosomal diseases; and 3) uncovered cellular components and signaling pathways involved in lysosomal dysfunction that may be targets for the development of new therapeutic approaches.

Data: CORDIS, © European Union

Project objective

LysoMod will innovate in the area of personalized medicine for disorders linked to lysosomal dysfunction. This will be achieved by implementing a collaborative staff-exchange program between highly complementary and multidisciplinary academic and non-academic partners with expertise in pharmacology, medicinal chemistry, cell biology, biochemistry, mouse and human genetics, transcriptomics, proteomics and lipidomics. Based on the critical role that lysosomes play in cells, a better understanding of lysosomal function will have a major impact on human health, fostering the development of new strategies to improve quality of life for people affected by a variety of diseases, ranging from lysosomal storage diseases (LSDs) to age-related neurodegenerative disorders. LysoMod’s specific objectives are: 1) to develop and further optimize existing therapies for LSDs; 2) to identify new targets for personalized therapies for LSDs; and 3) to investigate the cross-talk between lysosomal function, signalling pathways and gene expression regulation. The pioneer work of a participant in the consortium led to the development of a drug that is approved for clinical use. LysoMod will i) investigate the mechanisms of action of this and other drugs in lysosome-related disorder; ii) identify modifier genes involved in LSD pathology and test their potential as new targets for personalized therapeutic approaches; iii) identify candidate RNAs that can be targeted to enhance lysosomal function. The companies in the consortium will ensure a rapid transfer of new knowledge into applications for diagnostics and clinical trials. Prioritising lysosomal dysfunction as a highly relevant biomedical problem, the LysoMod consortium will implement a mentored staff-exchange program to provide young researchers with high-level training in innovative approaches for exploring biological systems, preparing the next generation of researchers for careers either in the private or public health sectors.

Original text from CORDIS.

Participants

  • INSTITUTO DE MEDICINA MOLECULAR JOAO LOBO ANTUNES · LisboaCoordinatorPortugal
  • CHRONOS BIOSYSTEMS SRL · BucharestRomania
  • FONDAZIONE TELETHON ETS · ROMAItaly
  • GENOMED, DIAGNOSTICOS DE MEDICINA MOLECULAR SA · LisboaPortugal
  • INSTITUTUL DE BIOCHIMIE · BucharestRomania
  • INTRABIO LTD · LondonUnited Kingdom
  • LIPOTYPE · DresdenGermany
  • PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE · SantiagoChile
  • THE CHANCELLOR, MASTERS AND SCHOLARS OF THE UNIVERSITY OF OXFORD · OxfordUnited Kingdom
  • THE CHILDREN'S HOSPITAL OF PHILADELPHIA NON PROFIT ORG · PhiladelphiaUnited States
  • THE UNIVERSITY OF SUSSEX · BrightonUnited Kingdom
  • UNIVERSIDAD DE BUENOS AIRES · Buenos AiresArgentina
  • UNIVERSIDAD DEL DESARROLLO · San Carlos De ApoquindoChile
  • WEIZMANN INSTITUTE OF SCIENCE · RehovotIsrael

Links

Data: CORDIS, © European Union