Gaël N.
- Country
- France
- Department
- Génétique médicale
Research Overview
Data & Insights
Has run more than one trial at 0 of 10 partner sites.
Specializations
Medical Genetics and Rare Inherited Disorders
The investigator applies genomic analysis to hereditary kidney diseases and inherited metabolic disorders, advancing diagnostic precision.
- Congenital antithrombin deficiency
- Dominantly inherited Alzheimer disease
- Monogenic liver fibrosis
- Rare vasculitides (e.g., ANCA-associated)
These efforts support targeted counseling and personalized therapeutic strategies.
Oncology and Tumor Genomics
Focus lies on molecular profiling of solid tumors such as non‑small cell lung cancer and advanced biliary tract cancers, guiding precision oncology.
- FGFR‑altered gastrointestinal cancers
- KRAS G12C‑mutant lung carcinoma
- Claudin‑18.2 positive pancreatic adenocarcinoma
- Melanoma with BRAF V600E mutation
Genomic insights inform selection of targeted agents and immunotherapies.
Cardiovascular and Metabolic Diseases
Research addresses risk stratification in atherosclerotic cardiovascular disease and management of chronic kidney disease with high proteinuria.
- Elevated lipoprotein(a) (Lp(a))
- Heart failure with reduced ejection fraction
- Atrial fibrillation in hypertensive patients
- Obesity‑related metabolic syndrome
Findings aim to reduce cardiovascular events and improve renal outcomes.
Autoimmune and Inflammatory Conditions
The investigator studies immune‑mediated diseases including ANCA‑associated vasculitis and moderate‑to‑severe atopic dermatitis, exploring novel immunomodulators.
- Systemic lupus erythematosus
- Rheumatoid arthritis refractory to methotrexate
- Hidradenitis suppurativa
- Chronic spontaneous urticaria
These studies seek to improve disease control and quality of life.
Neurological and Neurodegenerative Disorders
Efforts target early detection and therapeutic avenues for Alzheimer disease and multiple sclerosis, integrating biomarker research.
- Early symptomatic Alzheimer’s disease
- Progressive primary‑progressive multiple sclerosis
- Diffuse intrinsic pontine glioma
- Parkinson’s disease with cognitive decline
Work contributes to disease‑modifying strategies and patient monitoring.
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