Sokhna Haissatou Diaw, PhD
PhD Student
Aug 2020 – Current: PhD's Degree at the Institute of Neurogenetics – University of Lübeck.
Thesis: “Aufklärung molekularer Mechanismen bei seltenen Erkrankungen am Beispiel der Dystonien.”
Institut für Neurogenetik – Universität zu Lübeck
Oct 2017 – Dec 2019: Master's Degree in Medical and Pharmaceutical Biotechnology at the University of Trieste.
Thesis: “Functional Analysis and Characterization of Novel Variants in WDR45: Role of Mitochondrial Integrity and Autophagy.”
Università degli Studi di Trieste
Sep 2013 – Jul 2017: Bachelor's Degree in Biotechnology at the University of Udine.
Thesis: “Study of Polymorphisms of the APE/REF Gene in Patients Affected by Huntington's Disease.”
Università degli Studi di Udine
2023: The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant
2023: Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder
2022: Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration
2022: Emerging role of a systems biology approach to elucidate factors of reduced penetrance: transcriptional changes in THAP1-linked dystonia as an example
2021: Ceramide accumulation induces mitophagy and impairs β-oxidation in PINK1 deficiency
2020: Discordant Monozygotic Parkinson Disease Twins: Role of Mitochondrial Integrity
2020: Linking Huntington's Disease and X-Linked Dystonia Parkinsonism on the Molecular Level
2019: Generation and characterization of human-derived iPSC lines from three pairs of monozygotic twins discordant for Parkinson's disease
Mar 2019 – Jul 2020: Trainee – Genetics of Rare Diseases Laboratory (Katja Lohmann's Research Group)
Institut für Neurogenetik – Universität zu Lübeck
Oct 2016 – Jul 2017: Trainee – Neurogenetic Laboratory (Incoronata Renata Lonigro's Research Group)
Università degli Studi di Udine
Mar 2016 – Apr 2016: Trainee – Immunology Laboratory (Carlo Pucillo's Research Group)
Università degli Studi di Udine