Laboratory of Biochemistry and Genetics - Division of Neurology
Affiliation and Address
University of Milan
Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico
Division of Neurology
Contacts and References
Laboratory Head: Prof. Giacomo P. Comi Neurologist, Full Professor and Director of the Division of Neurology
Mail: giacomo.comi@unimi.it / neurologia@policlinico.mi.it
Since 1985, the Laboratory of Biochemistry and Genetics has been one of the diagnostic and research facilities of the “Dino Ferrari Center” at the University of Milan, located within the Palazzina Sforza of the Ospedale Maggiore Policlinico. Since its foundation, the Laboratory has been committed to the biochemical and, subsequently, bio-molecular investigation of neuromuscular diseases (Muscular Dystrophies, Metabolic Diseases) and neurodegenerative pathologies (specifically, infantile-onset motor neuron diseases – Spinal Muscular Atrophy – and adult-onset forms such as Amyotrophic Lateral Sclerosis). It is also dedicated to the development of cellular therapeutic strategies and pharmacogenomics for these conditions. In these fields, the Laboratory has contributed, for both diagnostic and research purposes, to the identification of the genetic causes of numerous hereditary pathologies affecting skeletal muscle: Duchenne (DMD) and Becker (BMD) muscular dystrophies, autosomal dominant and recessive myodystrophic forms, inclusion body myositis, glycogen and glycolytic pathway disorders, fatty acid utilization and transport defects, and mitochondrial metabolic defects. The employment of next-generation genetic methodologies enables the study of the genetic etiology of major hereditary neurodegenerative diseases. Furthermore, the use of in vitro models has led to the creation and expansion of a cell culture section, whose availability within the Telethon Network of Genetic Biobanks (TNGB) represents a vital resource for new studies. The integration of patient-based investigation and applied research has fostered the education of generations of neurologists and biologists, preparing them to face the challenges posed by the complexity of neurological diseases, the mechanisms that cause them, and the experimental validation of therapeutic protocols to combat them.
The mission of the Laboratory is to define the biochemical and genetic causes of a broad spectrum of neurological disorders, with a specific focus on neuromuscular diseases. These include, among others, Dystrophinopathies (Duchenne and Becker Muscular Dystrophy, DMD and BMD), Limb-Girdle Muscular Dystrophies (LGMD), Congenital Myopathies (CM), and Metabolic Myopathies involving impaired glucose metabolism (e.g., Glycogenosis), lipid metabolism, or oxidative metabolism (e.g., Mitochondrial Diseases). The Laboratory also investigates motor neuron neurodegenerative diseases with both childhood onset (e.g., Spinal Muscular Atrophy SMA5q) and adult onset (e.g., Amyotrophic Lateral Sclerosis). Furthermore, the Laboratory serves as a reference center for the analysis of ultra-rare (neglected) forms of childhood neuromuscular pathologies, such as:
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Spinal Muscular Atrophy with Respiratory Distress (SMARD1, 1:100,000)
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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME, 1:1,000,000)
The implementation of Next-Generation Sequencing (NGS) techniques enables the analysis of a wide range of monogenic and molecular neurological diseases.
The Laboratory is engaged in a multifaceted scientific research program dedicated to understanding the etiopathogenesis of neuromuscular and neurodegenerative diseases and developing pharmacological and molecular therapies for their treatment.
Key areas of research and achievement include:
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Gene Discovery: The laboratory has identified, and contributed to the identification of, new causative genes for mitochondrial diseases, metabolic myopathies, congenital myopathies, and motor neuron diseases.
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Clinical Trials: Since 2008, the facility has contributed to clinical pharmacological trials for Duchenne and Becker Muscular Dystrophy, Spinal Muscular Atrophy (SMA), and Muscle Glycogenoses.
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Innovative Therapies: The cutting-edge treatments under investigation range from Enzyme Replacement Therapy (ERT) to various forms of molecular therapies, including gene therapy mediated by adeno-associated viral (AAV) vectors.
Pathologies studied
- Distrofie Muscolari di Duchenne e Becker (Distrofinopatie)
- Distrofie Muscolari Congenite
- Distrofie Muscolari dei Cingoli (LGMD)
- Malattie Mitocondriali
- Malattie del Motoneurone
- Glicogenosi Muscolari
- Malattia di Charcot-Marie-Tooth 2A (CMT2A) (Mitofusina 2)
- Neuropatie Acquisite
- Distrofia oculo-faringea (OPMD)
- Miastenia Gravis (MG)
- Canalopatie Muscolari
- Paraparesi Spastiche Ereditarie (HSP) – Sindrome di Strümpell-Lorrain
- Sindrome di Guillain-Barrè e Miastenia Gravis
- Distrofia Facio-Scapolo-Omerale (FSHD)
- Distrofie Miotoniche
- Miastenie Congenite (CMS)
- Polineuropatia Infiammatoria Demielinizzante Cronica-CIDP
- Cefalea – Cefalee Primarie e Secondarie
The team
Contact persons
Head of Laboratory: Prof. Giacomo P. Comi
MD, Neurologist, Full Professor, and Director of the Department of Neurology.