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Since 2001, the "Pierfranco and Luisa Mariani Foundation" supports the Mariani Foundation Center for the study of Pediatric Mitochondrial Diseases hosted by the Molecular Neurogenetics Unit of the IRCCS Foundation Neurological Institute "C. Besta" at Bicocca premises.

Within the same structure, the biochemical and molecular diagnosis for mitochondrial pathologies of adults is also carried out.

Different kind of professionals work together at the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases and this ensures an active and profitable multidisciplinary work, which concerns clinic and assistential aspects as well as diagnostic and scientific aspects, enhancing the idea of having a “from bed to bench" medicine.

Furthermore, the presence of experts in both pediatric and adult neurology, guarantees continuity of patient management in the delicate transition from childhood to adulthood.

Advanced research and diagnostics are strictly combined to offer an extremely high-quality service to patients and their families and to improve knowledge of these diseases, with the purpose of formulating the most effective therapeutic strategies to combat them.

In order to reach this goal, the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases can rely on the activity of the biobank "Cell line DNA and Bank of Genetic Movement Disorders and Mitochondrial Diseases" hosted by the Molecular Neurogenetics Unit. The biobank is member of Telethon Network of Genetic Biobanks as well as member of two European networks: EuroBiobank and RD-connect

 

DIAGNOSTICS

The Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases offers patients and their families a "package" of integrated and comprehensive diagnostic tests for the study of mitochondrial diseases, ranging from biochemical analysis of the respiratory chain, pyruvate dehydrogenase and coenzyme Q, to the screening of the most frequent mitochondrial DNA mutations, to the complete analysis of the entire mitochondrial genome, to the study of all nuclear genes responsible for mitochondrial diseases.

These procedures are carried out by highly qualified personnel, using state-of-the-art equipment and they are combined with clinical evaluation, genetic counseling, morphological analysis of muscle biopsy and neuroradiological examinations that can be carried out at the IRCCS Foundation Neurological Institute "C. Besta".

Thanks to our multi-year experience we are now able to offer patients suffering from mitochondrial pathologies, some of the most complete and qualified diagnostic and therapeutic protocols in the world.

 

CLINICAL SERVICE

In addition to the research activity, the Mariani Foundation Center for the Study of Mitochondrial Pediatric Diseases offers standardized care processes to patients with mitochondrial disorders and their families. Thanks to expertise in both pediatric and adult pathology, the Institute is among the few in Italy able to take care of patients with mitochondrial disease from the time of diagnosis throughout the evolution of the disease, providing patients with the necessary continuity in the delicate phase of transition from childhood to adulthood.

The Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases also provides a genetic counseling service to all families where a subject with mitochondrial disease has been identified.

Since 2011, the Center has joined the Regional Registry for Rare Disease and the National Registry for Mitochondrial Diseases funded by Telethon Foundation and by Mitocon ONLUS (a non-profit patients’ association).

 

SCIENTIFIC RESEARCH

In addition to highly qualified diagnostic activities, the Mariani Foundation Center for Pediatric Mitochondrial Diseases carries out several research projects whose aim is to understand the genetic basis of mitochondrial diseases, as well as the molecular and cellular mechanisms that link genetic defects to the different neurological syndromes affecting people in pediatric age.

In order to reach this goal, the Mariani Foundation Center for the Study of Pediatric Mitochondrial Disease works in close collaboration with the Infantile Neuropsychiatry Division of the IRCCS Foundation Neurological Institute "C. Besta".

Our team has a multi-year experience in mitochondrial disease research that led to the identification of many genetic defects associated with mitochondrial pathologies. Our research team collaborates with several national and international laboratories with the aim of clarifying the pathogenetic mechanisms of mitochondrial diseases in order to identify effective therapies.

In this context, the Mariani Foundation Center for the Study of Pediatric Mitochondrial Diseases also carries out a lot of continuous theoretical and practical training courses for researchers and neurologists at national and European level.