More than 6,400 rare diseases impact an estimated 18 million to 30 million Americans. About 80 percent of these diseases have a genetic basis, and 50 percent affect children.
The Rare Diseases Clinical Research Network (RDCRN) consortia have examined specific rare pediatric diseases. Their research includes conditions like urea cycle disorders, Angelman, Rett, and Prader-Willi syndromes, lysosomal storage disorders, genetic disorders of mucociliary clearance, primary immune deficiencies, and mitochondrial diseases.
Advances in genomic medicine are helping researchers identify new rare diseases. Many common conditions may also reveal themselves as collections of genetic mutations. Improved clinical trial methods and study designs tailored for small sample sizes are critical in addressing rare diseases effectively.
The growing field of genomic medicine makes rare disease research in children increasingly important. Early treatment often leads to better outcomes and quality of life. For instance, in the case of phenylketonuria, early dietary therapy in infants can support normal development, while delayed treatment increases the risk of severe intellectual and physical disabilities.
The Rare Diseases Clinical Research Network (RDCRN) consortia have examined specific rare pediatric diseases. Their research includes conditions like urea cycle disorders, Angelman, Rett, and Prader-Willi syndromes, lysosomal storage disorders, genetic disorders of mucociliary clearance, primary immune deficiencies, and mitochondrial diseases.
Advances in genomic medicine are helping researchers identify new rare diseases. Many common conditions may also reveal themselves as collections of genetic mutations. Improved clinical trial methods and study designs tailored for small sample sizes are critical in addressing rare diseases effectively.
The growing field of genomic medicine makes rare disease research in children increasingly important. Early treatment often leads to better outcomes and quality of life. For instance, in the case of phenylketonuria, early dietary therapy in infants can support normal development, while delayed treatment increases the risk of severe intellectual and physical disabilities.
RSS Feed
