Genetic diseases

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Many teams are involved in research projects designed to address the basic challenges of various genetic diseases, including monogenic diseases, like hemochromatosis and other inborn metabolic diseases, cystic fibrosis, haemoglobinopathies, neuromuscular diseases, triplet diseases, developmental diseases, and multifactorial diseases, like obesity and atherosclerosis. These projects are often closely linked to the clinical setting, and exploit systematic approaches of analysis, like genomics, epigenomics, transcriptomics, proteomics, and metabolomics. An example of inborn metabolic disorder studied by DMMBM scientists is the fructose intolerance due to mutations of the aldolase B gene.
Scientists active in this research area: Amato, Baldini, Bonatti, Carsana, Castaldo, Cevenini, Cocozza, De Felice, De Simone, Errico, Esposito G., Ferraiuolo, Fortunato, Frisso, Grosso, Iolascon, Izzo, Lombardo, Mallardo, Mazzaccara, Nardelli, Nitsch, Paolella, Pastore, Pavone, Ruoppolo, Scudiero, Tinto, Tomaiuolo, Villani.