Laboratory of Biochemistry and Genetics

The Laboratory of Biochemistry and Genetics is part of Dino Ferrari Center and University of Milan and it is host in the Sforza building inside Policlinic Hospital.

Since 1985, the Lab is involved in the study of the biochemical and molecular features of neuromuscular (muscular dystrophies, metabolic disorders) and neurodegenerative (in particular those featuring motor neuron pathology such as Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy) disorders and in the development of cellular and molecular therapeutic interventions to these disorders.

Our efforts lead to the identification of novel molecular defects underlining several neurological disorders including Duchenne and Becker dystrophies, autosomal recessive and dominant muscular dystrophies, inner body myositis, disorders of glucose metabolism and storage, dysfunction of fatty acids metabolism and mitochondrial diseases.

The spectrum of disorders investigated by our Center is enlarging and now cover most of the main neurodegenerative disorders with a genetic background. The availability of primary cell cultures and the use of cell models from the DNA and Tissues Telethon Biobank is a precious resource towards the identification of pathogenetic mechanisms underling the aforementioned disorders.

The integration of the results from clinical workout and laboratory investigations has developed a generation of neurologists and biologists able to face the challenge represented by the complexity of neurological disorders, their pathogenetic mechanisms and the experimental validation of therapeutic strategies.

Our laboratory is in charge of the following pathologies

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