Dr. Edoardo Monfrini is a neurology resident and PhD student in Clinical Research at the University of Milan.
His research activity at the Centro Dino Ferrari started in 2015 during an internship as a medical student at the Laboratory of Biochemistry and Genetics under the supervision of his mentor, Dr. Alessio Di Fonzo. Here, he learned the fundamental notions of neurogenetics and was introduced to the classic (e.g. linkage analysis, PCR, Sanger sequencing) and innovative genetic techniques (e.g. next-generation sequencing) needed to identify the causes of hereditary movement disorders. This absorbing research activity led to the publication of several papers in international peer-reviewed journals, describing original findings in the field of neurogenetics. For example, Dr. Monfrini described as a first author a novel form of hereditary ataxia due to mutations in the Neurofascin gene and he was the first to report the dominant pattern of inheritance of MPAN, a form of neurodegeneration with brain iron accumulation. In addition, he presented several scientific contributions at national and international congresses and won the prize for “Best oral presentation” at the VII Italian national congress of neurology residents.
His clinical activity focuses on diagnosis and treatment of movement disorders and rare neurogenetic disorders. He works in the in-patient and out-patient neurology clinic at the Foundation IRCCS Ca’ Granda Ospedale Maggiore Policlinico. He is the research coordinator of the “SPARK” clinical trial, which is testing a novel anti-alpha-synuclein monoclonal antibody in parkinsonian patients.
Ongoing research projects:
– Identification of novel genetic causes of rare neurological disorders
– Dissection of the genetic architecture of Parkinson’s disease
– Exploration of genetic risk factors in complex neurological disorders
– “SPARK” clinical trial in Parkinson’s disease patients