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
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, […]
Genetic Disease Research
Skin and Connective Tissue Diseases
Understanding the genetic components of skin and connective tissue diseases can offer insights into the development and progression of these conditions affecting the skin, muscles, tendons, and ligaments. Genomic research can aid in early detection […]
Genetic Disease Research
Eye Diseases
Eye diseases encompass a range of conditions that affect the structure and function of the eyes. By studying the genetic and genomic aspects of these diseases, researchers can gain a deeper understanding of the underlying […]