Genetics

Research

In addition to the Clinical Genetics Program, Children's Division of Genetics includes research laboratories devoted to 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 transition of progress in the laboratory to clinical applications.

The research program of the Division has been very productive, starting with the early cytogenetic work of Drs. Park S. Gerald and Samuel A. Latt, followed by the landmark somatic cell hybrid work of Dr. Gail Bruns and the specific phage libraries of Dr. Latt. Both of these efforts were part of the foundations of the Human Genome Project and led to the later positional cloning success of the Division. These successes included isolating the gene for Duchenne Muscular Dystropy, Aniridia/Wilms Tumor, two forms of Limb Girdle Muscular Dystrophy, Angelman syndrome, and a form of Nemiline Myopathy, just to name a few.

Recent work has centered on:

• The genetics of extreme longevity (Dr. Kunkel)
• The pathogenesis of muscular dystrophies and myoptathies (Drs. Beggs and Kunkel)
• Stem cell therapy of genetic diseases (Drs. Gussoni and Kunkel)
• Cranial nerve involvement in eye muscle disorders (Dr. Engle)
• Ancient conserved sequence motifs (Dr. Bruns)
• Disorders of cholesterol metabolism (Dr. Irons)