The next era of human genetics — since the vast majority of human genes are already identified — will be marked by functional analysis and studies aiming at the understanding of complex interactions between multiple genes. Modern human genetics is rapidly moving toward functional analysis of genes and gene products, using the information to understand the molecular pathogenesis of human diseases. This new knowledge will form the basis for novel treatment, prevention and intervention strategies in medicine.

Dr. Leena Peltonen Dr. Leena Peltonen, one of the field's most recognized human molecular geneticists, will deliver this year's Margaret Pittman Lecture, part of the NIH Director's Lecture series. Her talk, "Story of My Roots: Disease Mutations of a Population," will take place on Wednesday, Jan. 28 at 3 p.m. in Masur Auditorium, Bldg. 10. She will describe the search for disease genes of rare and common phenotypes to demonstrate strategies to identify disease genes and predisposing alleles. Peltonen has studied gene defects in multiple human diseases for the past 25 years. The greatest landmark of her research history was the identification and characterization of the molecular background of the lysosomal accumulation disease, aspartylglucosaminuria (AGU). Among her many accomplishments, Peltonen is one of the pioneers of novel strategies using samples from isolated populations to position and clone disease genes. The highly successful work of her group has been crucial in launching the concept of the use of population isolates in the search for disease genes and provides a model of such research today. Her group has positioned more than 20 disease loci to restricted chromosomal regions, and via positional cloning strategy has successfully identified more than 10 disease genes and characterized their functions.

Peltonen was the founding chair of the department of human genetics at UCLA and is currently the Gordon and Virginia MacDonald distinguished chair in human genetics at the university. She got her basic scientific education at one of the Centers of Excellence at the Academy of Finland, and started her thesis work while still in medical school. She obtained her M.D. at the University of Oulu in 1976 and her Ph.D. in biochemistry in 1978.

Peltonen has had a total of 50 Ph.D. theses produced and many of them have been accepted with honors. She has also organized numerous international scientific symposia and courses, which have established her as an international scientific educator. She has published a total of 369 original publications, 56 reviews in English, and 45 reviews in Finnish or Swedish. During the last 20 years, her papers have appeared in leading journals of molecular genetics and molecular biology, including Nature, Nature Genetics, American Journal of Human Genetics, and the New England Journal of Medicine.