New technology has permitted clonal isolation of normal and diseased genetic elements which occur at frequencies of 10-6 in the genome of humans. These cloned DNA segments have provided new diagnostic methods and opportunities to: (1)\observe gene expression and regulation; (2)\find linkage relationships of known and unknown disease loci; (3)\determine chromosomal organization; and (4)\set new sights for actual genetic correction of heritable disease. Care of patients affected with sickling hemoglobinopathies and thalassemia already has changed because of the new developments. At the meeting, these recombinant DNA developments will be projected to additional disorders, such as muscular dystrophy, Huntington's chorea and heritable cancers. Also to be considered are identification of genes for human diseases that are presently established phenotypically but anonymous genotypically and methods of gene replacement therapy for selected human disorders. The Banbury Conference Center of Cold Spring Harbor Laboratory offers an appropriate setting for leading researchers in human and molecular genetics to exchange information about the state of the art and set new, logical and informed directions for future research.