Marjolaine W.
- Country
- France
- Department
- Service Génétique Médicale
Research Overview
Data & Insights
Has run more than one trial at 0 of 10 partner sites.
Specializations
Inherited Renal and Metabolic Disorders
Focus on genetically driven kidney and metabolic pathologies affecting adult and pediatric populations.
- Alport Syndrome
- Fabry disease
- Metabolic Dysfunction‑Associated Steatohepatitis (MASH)
Studies aim to delineate genotype‑phenotype correlations and explore targeted therapeutic strategies.
Rare Neuromuscular and Neurodegenerative Diseases
Investigation of hereditary neuromuscular and neurodegenerative conditions with a genetic basis.
- Huntington disease
- Facioscapulohumeral Muscular Dystrophy
- Spinal Muscular Atrophy
- Spinocerebellar ataxia type 2
Research supports biomarker development and novel gene‑editing approaches.
Molecularly Targeted Oncology
Clinical investigation of tumors defined by actionable genetic alterations.
- MET exon 14‑mutated non‑small cell lung cancer
- KRAS G12C‑positive non‑small cell lung cancer
- HER2‑expressing biliary tract cancer
- Advanced clear cell renal cell carcinoma
Efforts center on precision medicine and genotype‑guided treatment selection.
Autoimmune and Inflammatory Genetic Syndromes
Evaluation of genetically influenced autoimmune disorders with systemic manifestations.
- Systemic lupus erythematosus
- ANCA‑associated vasculitis
- Dermatomyositis
- Psoriatic arthritis
Research includes exploration of immunogenetic pathways and personalized immunotherapies.
Genetic Pulmonary and Respiratory Conditions
Study of inherited respiratory diseases and genetically mediated airway disorders.
- Cystic fibrosis
- Eosinophilic asthma
- Bronchiectasis with chronic Pseudomonas colonization
- Idiopathic pulmonary fibrosis
Projects aim to integrate genetic profiling with novel respiratory therapeutics.
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