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ABOUT US
In 2001, thanks to the substantial support of the Pierfranco
& Luisa Mariani Foundation, the Center for the Study
of Mitochondrial Pediatric Diseases was esablished as part
of the C. Besta Institute of Neurology. The Center
is located at the Bicocca branch of the Institute. Within
the same structure, biochemical and molecular diagnostics
of adult mitochondrial pathologies are also carried out.
Research and advanced diagnostic
activities are strictly combined to each other in order to
offer a service of excellence to patients and families, and
make progress toward the elucidation of the causes of and
mechanisms leading to mitochondrial disease. The ultimate
goal is to identify rational therapeutic strategies to combat
mitochondrial disorders.
Diagnostics
The Center offers to patient and families a range of complete
and integrated tests essential for the study of mitochondrial
illnesses. These include the biochemical
analysis of the respiratory chain, the screening
of the most frequent mutations of mitochondrial DNA and
of all the so-far-known nuclear genes responsible
for mitochondrial diseases. The complete sequence
analysis of the entire mitochondrial genome is also
available for selected cases. These procedures are carried
out by our highly-qualified personnel, working with state-of-the-art
equipment, and are combined with the clinical evaluation,
genetic counseling, morphologic analysis of muscle biopsies
and neuroradiological and neurophysiological evaluations available
at the Institute of Neurology. Due to our two-decade
long experience in the field, we are able to propose today
to our patients one of the most complete and qualified
diagnostic-therapeutical protocols in the world.
Scientific Research
In addition to highly qualified diagnostic activities, the
Center hosts numerous research projects,
whose aim is to further the understanding of the genetic bases
of mitochondrial diseases and the molecular and cellular mechanisms
linking the genetic defect to the different neurological syndromes
affecting both pediatric and adult patients. To this aim,
the Center works in close collaboration with the Division
of Child Neurology at the Institute of Neurology.
Our team is proud of a long record of scientific achievements
in the research on mitochondrial disease. Our researchers,
under the direction of Dr.
Massimo Zeviani, have been successful in the
identification of numerous genetic defects associated with
mitochondrial pathologies. Our group is a founder partner
of “Miteuro”,
a EU network made up of over fifty European laboratories,
whose aims are to clarify the pathogenic mechanisms of mitochondrial
disease in order to identify the appropriate therapies. The
Center also hosts numerous advanced training and theoretical
courses for neuroscience researchers, neurologists
and child neurologists at both national and European levels.
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