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
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
Mitochondrial Disorders
Studying mitochondrial disorders, which result from mitochondrial dysfunction, can reveal critical information about the genetic basis of these conditions. By focusing on the genomics aspects of mitochondrial disorders, researchers can work towards early detection, prevention, […]