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In the first scientific conference to convene in the new headquarters of the Ó³»­´«Ã½, nearly 300 academic and industrial scientists from around the globe gathered to discuss recent strides in illuminating both the causes and consequences of the genetic differences buried deep within our genomes. The conference, entitled "Beyond HapMap," was the third in a series of annual meetings to examine the work made possible by the International Haplotype Map ("HapMap") Project, a worldwide mission to assemble a comprehensive map of common genetic variation in humans. The effort is fueled by a collective motivation to dissect the importance of these genetic differences in common human diseases and to define the influences that help create genomic diversity.

The meeting opened with back-to-back updates from the International HapMap Consortium that summarized the results and analysis of the project's second phase, which is nearly complete and soon to be released in the public domain. In the spirit of the meeting's forward-looking theme, roughly a third of the presentations focused on the applications of the HapMap to deciphering the genetics of complex human diseases, such as obesity, type 1 diabetes, and cardiovascular disease. Many speakers presented genome-wide association studies — large-scale efforts to uncover the genetic variants that underlie disease — and discussed effective strategies for study design and analysis, as well as results from a handful of recently completed studies. Other scientists presented work aimed at understanding the forces that shape the human genome, including evolutionary selection, recombination, and human migration patterns, as well as other forms of genetic variation not directly captured by the HapMap.

The HapMap project was officially launched in 2002, a collaboration among scientists from Canada, China, Japan, Nigeria, the United Kingdom, and the United States, to catalog single nucleotide polymorphisms ("SNPs") in the DNA of nearly 270 people with diverse geographic ancestries. In humans, these tiny differences in DNA sequence are often nestled together on chromosomes and are inherited in clusters known as "haplotypes." The SNP data are deposited in a common resource for the entire biomedical research community and have been collected in two stages. Phase I, which surveyed approximately 1 million SNPs in sampled individuals, was completed last year and published in Nature. The data from phase II are due for public release in the coming months and will include roughly 4 million SNPs, a 4-fold increase in genome coverage. This enhanced resolution will not only bolster current studies that utilize HapMap data, but will also open new avenues of genetic exploration.

The work of the HapMap has ushered a new era of biomedical investigation, which was noticeably reflected at the conference by the scale and number of ongoing efforts to correlate genetic differences with complex human diseases. These whole genome association studies, particularly their design and analysis, were a major focus of the meeting. Several presentations featured the work of Ó³»­´«Ã½ scientists, including Alkes Price, Nick Patterson, and David Reich, a Ó³»­´«Ã½ associate member and assistant professor in the Department of Genetics at Harvard Medical School, to accurately interpret genetic data collected from diverse populations. Two large-scale studies, recently published in Science and Nature Genetics, were also discussed, which identified genetic variants associated with obesity and a form of cardiovascular disease, respectively. These projects involved efforts of Ó³»­´«Ã½ researchers Chris Newton-Cheh, Helen Lyon, and Joel Hirschhorn. Hirschhorn is an assistant professor at Children's Hospital Boston and Harvard Medical School, an associate member of the Ó³»­´«Ã½ and the coordinator of Ó³»­´«Ã½'s Metabolic Disease Initiative.

The HapMap has also served as a key handle for charting other forms of variability in the human genome, especially those that relate to genome structure rather than sequence. Steve McCarroll, a postdoctoral fellow in the Program in Medical and Population Genetics at the Ó³»­´«Ã½, presented work using HapMap data that uncovered evidence for another form of common genetic variability, which involves deletions of genetic material. In addition to accelerating biomedical knowledge, HapMap efforts have also contributed to the development of a host of advanced research tools, including new DNA sequencing technologies and high-density SNP arrays, which the director of the Ó³»­´«Ã½'s Genetic Analysis Platform, Stacey Gabriel, described.

Humans and their genetic differences, though, were not the only topic for discussion. Pardis Sabeti, a postdoctoral fellow in the Infectious Disease Initiative, reported work currently underway to apply the approaches used in creating the HapMap to other important organisms, namely Plasmodium falciparum, the parasite that causes malaria in humans. This collaborative effort is led by Dyann Wirth, a professor at the Harvard School of Public Health and an associate member of the Ó³»­´«Ã½, and draws on the efforts of many scientists in Cambridge, Boston and abroad. Another group of researchers that includes Mark Daly, an associate member of the Ó³»­´«Ã½ and assistant professor at Massachusetts General Hospital and Harvard Medical School, and Claire Wade, a senior research scientist in the Ó³»­´«Ã½'s Program in Medical and Population Genetics, are applying whole genome association methods to the laboratory mouse as a complementary approach to dissect the genetic basis of complex diseases that affect humans.

While it is indeed an exciting time for genetic discoveries, Philip Reilly, a lawyer, physician and geneticist, and the chairman of the board at Interleukin Genetics, closed the meeting with a tempered view, urging scientists to look beyond the lab bench. He challenged researchers to contemplate not just the scientific impacts of today's promising genetic breakthroughs, but their influence in both social and economic contexts as well.