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.
Genetic Disease Research
Endocrine System Diseases
Endocrine system diseases affect the glands and hormones responsible for regulating various bodily functions. Investigating the genetics and genomics of endocrine system diseases can provide valuable insights into the genetic factors that influence these conditions. […]
Genetic Disease Research
Cardiovascular Diseases
Cardiovascular diseases encompass a wide range of conditions that affect the heart and blood vessels. Genomics plays a crucial role in understanding the genetic factors underlying these diseases. By investigating the genetics of cardiovascular diseases, […]
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 […]