Precision medicine for genetic childhood movement disorders

precision medicine for endocrinology

Oral pharmacotherapy of childhood movement disorders.

Movement disorders, a common problem in children with neurologic impairment, are receiving increasing clinical attention. The differences in movement disorders between adults and children are striking; presentation is frequently insidious and may be characterized by mild hypotonia. The clinical manifestations of extrapyramidal disorders are profoundly influenced by the age of onset. The conditi...

Precision Chemistry for Precision Medicine

During the 2015 State of the Union address, President Obama unveiled plans for a $215 million Precision Medicine Initiative. The details of this plan were laid out by past and present directors of the National Institutes of Health, Harold Varmus and Francis Collins, in a commentary in the New England Journal of Medicine. While the announcement stood as a public statement of support for funding,...

Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases

Determining the exact genetic causes for a patient and providing definite molecular diagnoses are core elements of precision medicine. Individualized patient care is often limited by our current knowledge of disease etiologies and commonly used phenotypic-based diagnostic approach. The broad and incompletely understood phenotypic spectrum of a disease and various underlying genetic heterogeneit...

Challenges of Identifying Clinically Actionable Genetic Variants for Precision Medicine

Advances in genomic medicine have the potential to change the way we treat human disease, but translating these advances into reality for improving healthcare outcomes depends essentially on our ability to discover disease- and/or drug-associated clinically actionable genetic mutations. Integration and manipulation of diverse genomic data and comprehensive electronic health records (EHRs) on a ...