This page represents genomic investigations available for a diverse array of genetic conditions that affect infants and children from birth or shortly thereafter. By studying the genetics and genomics of these disorders, researchers can identify the underlying causes and develop targeted approaches to diagnosis, treatment, and prevention. This work may lead to improved health outcomes and quality of life for affected individuals and their families.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Genetic Disease Research
Musculoskeletal Diseases
Understanding the genetic factors involved in musculoskeletal diseases can offer insights into the development and progression of these conditions, which affect the bones, joints, and muscles. Genomic research can aid in early detection and prevention, […]

Genetic Disease Research
Digestive System Diseases
Digestive system diseases involve conditions that affect the gastrointestinal tract and related organs. By exploring the genetic and genomic aspects of these diseases, researchers can uncover the underlying genetic factors that contribute to disease onset […]

Genetic Disease Research
Recommended Newborn Screening Panels
Newborn screening panels aim to identify genetic disorders early in life , allowing for timely intervention and improved health outcomes. The use of genomics in newborn screening can facilitate the detection of a broad range […]