Presentation
Michela Deleidi graduated from Vita-Salute University, San Raffaele Scientific Institute, Milan, Italy. She completed her residency in neurology followed by a research fellowship at the Neuroregeneration Institute at Harvard Medical School, Boston, USA. During this time, she focused on pluripotent stem cell technology for Parkinson's disease (PD) modeling and regenerative medicine applications. She was awarded an Alexander von Humboldt Fellowship and moved to Germany to complete her PhD studies at the German Center for Neurodegenerative Diseases (DZNE) in Tübingen. By combining cellular reprogramming with genome editing, her work led to one of the first stem cell-based models of Parkinson's disease, clearly demonstrating a mechanistic link to lysosomal storage diseases. Since 2016, Michela Deleidi has been a Helmholtz Young Investigator at the DZNE and Assistant Professor of Neurology at the University of Tübingen. In January 2023, she moved to France where she currently heads the "Mechanisms and Therapy of Genetic Brain Diseases" team at the Imagine Institute. The research vision of her group is to study how discrete genetic factors contribute to neurological disorders, with a particular interest in the mechanistic links between rare inherited diseases and age-related neurodegenerative diseases. Her team is currently pursuing the following lines of research: 1) mechanistic links between rare monogenic diseases (mitochondrial and lysosomal storage disorders) and complex age-related brain disorders (Alzheimer's and Parkinson's disease); 2) links between seemingly unrelated diseases such as inflammatory bowel disease, infections, and Parkinson's disease. Her team is developing models using induced pluripotent stem cells and long-term organoid cultures combined with single-cell analysis.
Resources & publications
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Journal (source)Am. J. Hum. Genet.
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and...
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Journal (source)Am. J. Hum. Genet.
Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing ...
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Journal (source)Am. J. Hum. Genet.
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
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Journal (source)Eur. J. Hum. Genet.
High incidence and variable clinical outcome of cardiac hypertrophy due to AC...
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Journal (source)J. Med. Genet.
No correlation between mtDNA amount and methylation levels at the CpG island ...
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Journal (source)Am. J. Hum. Genet.
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch...
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Journal (source)Nat Commun
Genetic diagnosis of Mendelian disorders via RNA sequencing.
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Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa...
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Journal (source)Am. J. Hum. Genet.
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe En...
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Journal (source)J. Med. Genet.
Segregation of mitochondrial DNA mutations in the human placenta: implication...
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Journal (source)Hum. Mutat.
Inhibition of mitochondrial translation in fibroblasts from a patient express...
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Journal (source)Am. J. Hum. Genet.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with...
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Journal (source)Am. J. Hum. Genet.
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal ...
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Journal (source)Am. J. Hum. Genet.
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Senso...
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Journal (source)Nature
Mitochondrial double-stranded RNA triggers antiviral signalling in humans.
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Journal (source)Am. J. Hum. Genet.
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati...
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Journal (source)Hum. Mol. Genet.
Mutations in the MRPS28 gene encoding the small mitoribosomal subunit protein...
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Journal (source)Hum. Mutat.
Clinical, neuroimaging and biochemical findings in patients and patient fibro...
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Journal (source)Blood
Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative bl...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)J Med Genet
Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non...
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Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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Journal (source)Am J Hum Genet
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...
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Journal (source)Blood
Defective palmitoylation of transferrin receptor triggers iron overload in Fr...