Research project from disease

Telethon implements a series of projects for the treatment of genetic diseases. Consult the archive.

2537 results found
Current
MECHANISMS OF FIBROSIS IN MUSCULAR DYSTROPHIES

Researcher STEFANO AUGUSTO MARIA BIRESSI
Diseases Duchenne muscular dystrophy

Current
FUNCTIONAL AND STRUCTURAL STUDIES OF HUMAN CLC CHLORIDE PROTEINS INVOLVED IN GENETIC DISEASES

Researcher ALESSANDRA PICOLLO
Diseases Osteopetrosis, autosomal recessive 1 | Megalencephalic leukoencephalopathy with subcortical cysts, type 1 | Bartter Syndrome, type 4B

Current
FATAL FAMILIAL INSOMNIA: PREVENTIVE TREATMENT WITH DOXYCYCLINE OF AT RISK INDIVIDUALS

Researcher GIANLUIGI FORLONI
Diseases Fatal familial insomnia

Current
PROTEOSTASIS IN THE EARLY SECRETORY COMPARTMENT AS A PATHOGENETIC MECHANISM AND THERAPEUTIC TARGET

Researcher ROBERTO SITIA
Diseases A1 - Antitrypsin deficiency | Multiple Sulfatase Deficiency | Ehlers-Danlos syndrome

Current
SMALL MOLECULES TO RESCUE FOLDING-DEFECTIVE SARCOGLYCANS: IN VIVO ASSESSMENT OF NOVEL THERAPEUTIC STRATEGIES

Researcher DORIANNA SANDONA'
Diseases Limb Girdle Muscular Dystrophy type 2D | Limb Girdle Muscular Dystrophy type 2E | Limb Girdle Muscular Dystrophy type 2F

Current
EXPLORING THE PATHOGENETIC BASIS OF ICF SYNDROME WITH HUMAN INDUCED PLURIPOTENT STEM CELLS

Researcher MARIA R. MATARAZZO
Diseases Immunodeficiency-centromeric instability-facial anomalies syndrome