Laboratorio di neurogenetica, medicina e biologia mitocondriale

Settore ERC del gruppo

LS1 Molecular Biology, Biochemistry, Structural Biology and Molecular Biophysics, Molecular synthesis, modification, mechanisms and interactions, biochemistry, structural biology, molecular biophysics signalling pathways

LS1_2 Biochemistry

LS1_3 DNA synthesis, modification, repair, recombination, degradation

LS2 Genetics, ’Omics’, Bioinformatics and Systems Biology

Molecular genetics, quantitative genetics, genetic epidemiology, epigenetics, genomics, metagenomics, transcriptomics, proteomics, metabolomics, glycomics, bioinformatics, computational biology, biostatistics, systems biology

LS2_1 Molecular genetics, reverse genetics, forward genetics, genome editing

LS2_2 Non-coding RNAs

LS2_4 Genetic epidemiology

LS2_5 Epigenetics and gene regulation

LS2_8 Transcriptomics

LS2_10 Metabolomics

LS2_12 Bioinformatics

LS3 Cellular and Developmental Biology

Cell biology, cell physiology, signal transduction, organogenesis, developmental genetics, pattern formation and stem cell biology, in plants and animals, or, where appropriate, in microorganisms

LS3_1 Morphology and functional imaging of cells and tissues

LS3_3 Organelle biology and trafficking

LS3_7 Cell death (including senescence) and autophagy

LS3_8 Cell differentiation, physiology and dynamics

LS3_12 Stem cell biology in development, tissue regeneration and ageing, and fundamental aspects of stem cell-based therapies

LS4 Physiology, Pathophysiology and Endocrinology

Organ physiology, pathophysiology, endocrinology, metabolism, ageing, tumorigenesis, cardiovascular diseases, metabolic syndromes LS4_1 Organ physiology and pathophysiology

LS4_5 Metabolism, biological basis of metabolism-related disorders

LS5 Neuroscience and Neural Disorders

Neural cell function and signalling, systems neuroscience, neural bases of cognitive and behavioural processes, neurological and psychiatric disorders

LS5_1 Neural cell function, communication and signalling, neurotransmission in neuronal and/or glial cells

LS5_4 Sensation and perception (e.g. sensory systems, sensory processing, pain)

LS5_7 Neurological disorders (e.g. neurodegenerative diseases, seizures)

LS5_8 Psychiatric disorders (e.g. affective and anxiety disorders, autism, psychotic disorders)

Altro Personale:

FARNE’ Sabrina (Tecnico di Laboratorio universitario)

Chiara La Morgia – Neurologa (Contrattista ISNB); Caporali Leonardo - Biotecnologo (Ricercatore ISNB); Maresca Alessandra - Biotecnologo (Ricercatore ISNB); Del Dotto Valentina – Biotecnologo (Borsista ISNB); Capristo Mariantonietta - Biologa (Supporto alla Ricerca ISNB); Raffaella Minardi - Biologa (Borsista ISNB); Palombo Flavia - Biologa (Borsista ISNB); Romagnoli Martina - Biotecnologa (Borsista ISNB); Tropeano Concetta Valentina - Biologa (Borsista ISNB); Monica Moresco - Biologa (Borsista ISNB); Danara Ormanbekova – Biotecnologa (Borsista ISNB)

Tipo Gruppo

RICERCA FATTIVA

Note

- Ricerca finanziata dal Ministero della Salute (Progetti Giovani Ricercatori): progetto GR-2016- 02361449, titolo “Italian Project on Hereditary Optic Neuropathies (IPHON): from genetic basis to therapy”, euro 450.000, coordinatore Dott. Leonardo Caporali, co-PI Dott.ssa Chiara La Morgia IN CORSO; conclusione 2021

- Ricerca finanziata dal Ministero della Salute (Ricerca Finalizzata): progetto RF-2018-12366703, titolo “REtinal ganglion cells and ORganoids from Inherited Optic Neuropathies: light on pathogenesis to fight blindness (REORION Project)”, euro 450.000, coordinatore Prof. Valerio Carelli APPROVATO 2019, IN CORSO

- Ricerca finanziata dal MIUR (PRIN): progetto Prot. 20172T2MH, titolo “Keeping mitochondrial DNA in shape in health and disease: cracking the elusive relationship between the fusion protein OPA1 and mtDNA maintenance in membrane-anchored nucleoids”, euro 450.971, coordinatore Prof. Valerio Carelli APPROVATO 2019, IN CORSO

- Ricerca finanziata da Telethon: progetto #GGP20115, titolo “Cure MERRF: from fibroblasts to organoids speeding basic science into clinical trials for mitochondrial diseases”, euro 237.710, coordinatore Prof. Valerio Carelli, APPROVATO 2021, IN CORSO

- Progetto Horizon 2020 - SC1-PHE-CORONA VIRUS-2020-2D finanziato dalla Comunità Europea: titolo, “Orchestra”, euro 27.887.638,18, coordinatore Prof.ssa Evelina Tacconelli (Universita’ di Verona) e co- coordinatore Prof. Pierluigi Viale (Universita’ di Bologna), Prof. Valerio Carelli componente del team di genomica nel WP6, budget euro 156.033

- Progetto Hosizon 2020 - SC1-BHC-29-2020 finanziato dalla Comunità Europea: titolo, “Enlightenme”, euro 4.999.908,75, coordinatore Prof. Simona Tondelli, co-coordinatore Prof. Valerio Carelli

Nell’ambito della ricerca commissionata (trial clinici):

- Trial GS-LHON-CLIN-06 (RESCUE and REVERSE Long-term Follow-up): follow-up di lungo termine dei pazienti con Leber’s Hereditary Optic Neuropathy (LHON), precedentemente tratti con GS010 (rAAV2/2-ND4) nei trials Rescue e Reverse, IN CORSO

- Trial GS-LHON-CLIN-05 (REFLECT): terapia genica con il vettore GS010 (rAAV2/2- ND4) in pazienti con Leber’s Hereditary Optic Neuropathy (LHON) in fase acuta entro 12 mesi dall’esordio somministrato binocularmente tramite iniezione intravitreale, IN CORSO

- Trial REALITY LHON Registry “Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients”: studio osservazionale sulla storia naturale di malattia della Leber’s Hereditary Optic Neuropathy (LHON), IN CORSO

- Trial SNT‐IV‐003 “Post Authorisation Safety Study With Raxone in LHON Patients” (PAROS): valutazione dei pazienti con Leber’s Hereditary Optic Neuropathy precedentemente trattati con idebenone, IN CORSO