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Functional Neuroanatomy of Rare Diseases - NeuroRare

Reference of the Group:

GIUV2026-007

 
Description of research activity:
Since 2015, the Functional Neuroanatomy of Rare Diseases Laboratory has focused its research on Rett syndrome, a rare disease caused by loss-of-function mutations in the X-linked MECP2 gene. This syndrome primarily affects girls and women and causes, among other severe symptoms, intellectual and motor disabilities, loss of speech and intentional hand use, epilepsy, and gastrointestinal and respiratory problems. Affected individuals are completely dependent, and there is no cure. We also investigate other rare diseases that cause similar symptoms, such as Fragile X syndrome. To do this, we use mutant mouse models for the Mecp2 gene (Rett model) or the Fmr1 gene (Fragile X model) and analyze the behavioral, neuroanatomical, and neuroendocrinological consequences of these mutations. On the other hand, we are verifying the safety and efficacy of experimental therapies for rescue of symptoms in murine models. Our final goal is to find new targets to expand the therapeutic options that can improve the quality of life of affected individuals. Our group maintains a stable collaboration with other research groups at the University of Valencia, as well as with the Jaume I University of...Since 2015, the Functional Neuroanatomy of Rare Diseases Laboratory has focused its research on Rett syndrome, a rare disease caused by loss-of-function mutations in the X-linked MECP2 gene. This syndrome primarily affects girls and women and causes, among other severe symptoms, intellectual and motor disabilities, loss of speech and intentional hand use, epilepsy, and gastrointestinal and respiratory problems. Affected individuals are completely dependent, and there is no cure. We also investigate other rare diseases that cause similar symptoms, such as Fragile X syndrome. To do this, we use mutant mouse models for the Mecp2 gene (Rett model) or the Fmr1 gene (Fragile X model) and analyze the behavioral, neuroanatomical, and neuroendocrinological consequences of these mutations. On the other hand, we are verifying the safety and efficacy of experimental therapies for rescue of symptoms in murine models. Our final goal is to find new targets to expand the therapeutic options that can improve the quality of life of affected individuals. Our group maintains a stable collaboration with other research groups at the University of Valencia, as well as with the Jaume I University of Castellón, the University of Coimbra (Portugal), the University of Trieste (Italy), and Queen Mary University of London (United Kingdom).
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Web:

https://www.uv.es/uvweb/universitat/ca/fitxa-persona-1285950309813.html?p2=pavon&idA=true

 
Scientific-technical goals:
     
    Research lines:
    • ProRett Drug Testing Centre Trieste-Valencia-Coimbra.The ProRett Drug Testing Centre project, funded by the Italian ProRett association, aims to verify the efficacy of repositioned drugs in vitro and in vivo (in a mouse model) for Rett syndrome.
    • NEUROENDOCRINE BASIS OF ATYPICAL SOCIAL BEHAVIOUR IN MECP2 DEFICIENT MICE, MODEL OF RETT SYNDROME.In this line of research, we focus on how mutations in Mecp2 can affect pubertal development, brain development during adolescence, and social behavior.
    • Protracted neural maturation in rare neurodevelopmental disorders.We investigate how mutations in X-linked genes such as Mecp2 and Fmr1, which cause Rett syndrome and fragile X syndrome, respectively, affect the prolonged maturation during childhood, adolescence and youth of immature neuron populations in the piriform cortex, the olfactory tubercle and the paralaminar amygdala
     
    Group members:
    Name Nature of participation Entity Description
    CARMEN AGUSTIN PAVONDirectorUniversitat de València
    Research team
    RAFAEL ESTEVE PEREZMemberUniversitat de València
    ANA MARTIN SANCHEZCollaboratorUniversitat Jaume IFull-time trainee professor (doctor)
    DANIELA JIMENEZ DIAZCollaboratorUniversitat de València
     
    CNAE:
    • -
     
    Associated structure:
    • Cellular Biology and Functional Biology
     
    Keywords:
    • ADULT NEUROGENESIS
    • RETT SYNDROME
    • DRUG REPURPOSING
    • DOUBLECORTIN
    • AMYGDALA
    • FMR1
    • PUBERTY
    • GNRH
    • MECP2
    • SOCIAL BEHAVIOUR