Research in Children's Division of Genetics is directed at the study of genes that underlie inherited disorders and the function of their encoded proteins. The Clinical Genetics Program and the laboratories are closely interrelated, facilitating the rapid translation of progress in the laboratory to clinical applications.

The research program of the Division has been in the vanguard of the genetics revolution, starting with the early cytogenetic work of Drs. Park S. Gerald and Samuel A. Latt. Their efforts were followed by the landmark somatic cell hybrid work of Dr. Gail Bruns and the specific phage libraries of Dr. Latt, which laid part of the foundation of the Human Genome Project and led to the later positional cloning success of the Division, including isolating the genes for Duchenne Muscular Dystropy, Aniridia/Wilms Tumor, two forms of Limb Girdle Muscular Dystrophy, Angelman syndrome, and a form of Nemiline Myopathy.

Featured researchers in the Division of Genetics hold faculty appointments at Harvard Medical School.