Neurologic disorders
Research into inherited and complex conditions affecting the brain, nerves and neuromuscular system.
Research focus 02
Genetic disease
research.
A phenotype-first approach to common and rare genetic disorders, connecting clinical presentation, biological pathways, candidate genes and genomic evidence.
Our approach
Complex phenotypes.
Clear investigation.
Genetic diseases can affect virtually every system in the body. Our research approach organizes this complexity by clinical category, then applies appropriate molecular technologies to investigate the genes and variants that may contribute to disease.
Clinical areas
Research across
the human system.
Metabolic disease
Investigation of genetic conditions affecting biochemical pathways, nutrition and metabolism.
Newborn screening
Research supporting panels for early identification of selected actionable inherited disorders.
Multisystem conditions
Phenotype-driven study of rare diseases, congenital differences and disorders spanning several organ systems.
Eye and hearing disorders
Genomic investigation of inherited sensory conditions and their heterogeneous genetic causes.
Musculoskeletal disease
Research across skeletal, connective-tissue and inherited muscle disorders.
Research pathway
Phenotype. Evidence.
Interpretation.
Our stepwise framework begins with careful clinical characterization, proceeds through molecular analysis and evidence review, and supports research into early detection and timely intervention.
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