WE DEVELOP FLY MODELS TO STUDY RARE DISEASES, FOCUSING ON CHILDHOOD-ONSET DEVELOPMENTAL ENCEPHALOPATHIES.
Our laboratory uses the fruit fly, Drosophila melanogaster, to study the fundamental biological mechanisms underlying development and disease. Our group is part of the UPV-CIPF Joint Unit, established in 2016 to promote scientific collaborations between researchers in both institutions in the fields of pathophysiology and nanomedicine.
Over the past decade, we have used Drosophila to generate models to study rare diseases, with a particular interest in developmental encephalopathies, such as Dravet syndrome and CDKL5 Deficiency Disorder (CDD). In the case of Dravet syndrome the goal is to replace the Drosophila gene with the equivalent human gene carrying clinical mutations found in patients, thus allowing the development strategies in personalized and precision medicine. Regarding CDD, we aim to develop a representative model that fully exhibits the altered phenotype, unlike the current rodent and fish models.
Altogether, our ultimate objective is to understand the underlying disease mechanisms to generate new representative models and biomarker tools and implement drug screenings for drug discovery or repurposing. To achieve these goals, we are using genome-editing techniques and have an extended network of collaborators, including groups working in Drosophila genetics, physiology and rare diseases, with an emphasis on collaborations with patient associations and clinical groups.
PRESENTATION
GET TO KNOW US BETTER
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RESEARCH STAFF
THE PEOPLE WHO MAKE IT ALL POSSIBLE
Máximo Ibo Galindo Orozco
igalindo@cipf.es
Maria Del Carmen Martin Carrascosa
mcmartin@cipf.es
Christian Palacios Martínez
cpalacios@cipf.es
PUBLICATIONS
OUR SCIENTIFIC CONTRIBUTIONS
A phylogenetic analysis of the CDKL protein family unravels its evolutionary history and supports the Drosophila model of CDKL5 deficiency disorder.
Frontiers in Cell and Developmental Biology 2025 Apr, DOI: 10.3389/fcell.2025.1582684, Vol. 13, pag. 1582684-1582684
Peripheral modulation of antidepressant targets MAO-B and GABAAR by harmol induces mitohormesis and delays aging in preclinical models.
Nature Communications 2023 May, DOI: 10.1038/s41467-023-38410-y, Vol. 14, pag. 2779-2779
Generation and Characterization of the Drosophila melanogaster paralytic Gene Knock-Out as a Model for Dravet Syndrome
LIFE-BASEL 2021 Nov, DOI: 10.3390/life11111261, Vol. 11, pag.
Mild Muscle Mitochondrial Fusion Distress Extends Drosophila Lifespan through an Early and Systemic Metabolome Reorganization
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 2021 Nov, DOI: 10.3390/ijms222212133, Vol. 22, pag.
Oxidative Stress, a Crossroad Between Rare Diseases and Neurodegeneration.
Antioxidants 2020 Apr, DOI: 10.3390/antiox9040313, Vol. 9, pag.
The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway
Disease Models & Mechanisms 2018 Jan, DOI: 10.1242/dmm.029082, Vol. 11, pag.
A Drosophila model of GDAP1 function reveals the involvement of insulin signalling in the mitochondria-dependent neuromuscular degeneration
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE 2017 Mar, DOI: 10.1016/j.bbadis.2017.01.003, Vol. 1863, pag. 801-809
