Helena M. H.

Focused on inherited muscle disorders that present in childhood, the investigator evaluates disease mechanisms and emerging disease‑modifying strategies.

• Duchenne muscular dystrophy
• Spinal muscular atrophy
• Congenital myopathies
• Metabolic myopathies
• Rare glycogen storage diseases affecting muscle

Efforts include genotype‑phenotype correlation, natural‑history registries, and evaluation of novel exon‑skipping or gene‑replacement therapies.

In the neuropediatric setting, the investigator addresses malignant and low‑grade central nervous system tumors that arise in children and adolescents.

• Diffuse intrinsic pontine glioma
• Medulloblastoma
• Low‑grade glioma with RAF alterations
• High‑grade glioma with H3K28M mutation
• Pediatric ependymoma

Research integrates molecular profiling, targeted agents, and novel delivery methods to improve survival while preserving neurodevelopment.

The investigator’s work includes severe early‑onset epilepsies that impact neurodevelopment, seeking precision‑medicine approaches.

• Dravet syndrome
• SCN2A‑related epilepsy
• Infantile spasms
• Genetic epileptic encephalopathy
• Status epilepticus in pediatric patients

Key objectives are to identify pathogenic variants, evaluate disease‑specific antiseizure medications, and monitor cognitive outcomes.

Attention is given to rare neurodegenerative disorders that present in childhood or early adulthood, with an emphasis on disease‑modifying interventions.

• Early‑onset Alzheimer’s disease
• Frontotemporal dementia (juvenile form)
• Parkinsonism‑plus syndromes in children
• VEXAS syndrome
• Neurodegeneration with brain iron accumulation

Studies focus on biomarker discovery, natural‑history documentation, and evaluation of emerging disease‑targeted therapies.