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
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 […]
Genetic Disease Research
Neoplasms
This section primarily focuses on germline cancers that are inherited. If you are looking for information on somatic cancer investigation, please click here.
Genetic Disease Research
Otorhinolaryngologic Diseases
Exploring the genetic factors involved in otorhinolaryngologic diseases, which affect the ear, nose, and throat, can lead to a better understanding of these conditions and their underlying mechanisms. Genomic research can aid in early detection, […]