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Using a method of surveying an entire mammalian genome, scientists have discovered that an immune system protein may play a previously unsuspected role in quelling the spread of tuberculosis infection. The finding has implications for devising new therapies for tuberculosis (TB), especially for the drug resistant strains that now affect some 50 million people world wide. The study, reported in the June 10 issue of the Proceedings of the National Academy of Sciences, was led by Dr. Richard Young at the Whitehead Institute for Biomedical Research. "We believe this is the first time that scientists have used a survey of the entire genome to identify genes turned on by infectious agents. We suspect that this method (strategy) will become a powerful new weapon in the war against other microbes, including HIV," says Dr. Young.

An international consortium of genome laboratories from North America, Europe, and Japan has created a unified gene map that establishes the location of more than 16,000 human genes. The unified gene map represents the first edition of the quintessential goal of the Human Genome Project—a catalog of all the genes that make up a human being—and provides the location of one in five of all human genes.

Keynote speaker Dr. Harold E. Varmus, director of the National Institutes of Health (NIH), President Charles M. Vest of the Massachusetts Institute of Technology (MIT), and Senator Paul E. Tsongas, Chairman of the Board of the Whitehead Institute for Biomedical Research, joined more than 300 business leaders, educators, and scientists in dedication ceremonies for the Whitehead Institute's new research wing.

Non-insulin dependent diabetes mellitus (NIDDM) affects more than 100 million people worldwide. Screening more than 4,000 individuals from an isolated region in Finland, an international research group has located a gene, called NIDDM2, that may be involved in a significant fraction of adult-onset diabetes tied to low insulin secretion. The strategy used to find this gene has important implications for genetic analysis of other complex diseases (caused by the interaction of multiple genes and the environment), as well as our understanding of the causes of human diabetes.

For decades the human Y chromosome, the male sex chromosome, has been the Rodney Dangerfield of human genetics: "it don't get no respect." For long, the Y was considered to be little more than a smaller, less stable version of the X. Now, new evidence from Dr. Page and his collaborators at the Whitehead Institute, the Massachusetts Institute of Technology, and the University of Washington reveals that the Y chromosome has led an independent existence after all.

Familial hypercholesterolemia, a genetic disease characterized by high levels of cholesterol and early mortality, is caused by defects in the receptor for the low-density lipoprotein (LDL)—the bad cholesterol. Now, Boston area scientists have found that this occurs because mutations in the LDL receptor prevent the protein from folding into its normal shape. This in turn impedes the receptor's ability to bind bad cholesterol and remove it from the bloodstream, causing the hypercholesterolemia.

For the first time, scientists have isolated embryonic tissue from zebrafish and successfully grown the tissue in culture. This assay will offer scientists a long-sought and powerful research tool, allowing them to study early development in ways that are not possible with other model organisms like frogs, mice, or chicks. Using this culture, the scientists also found key genes involved in the formation of the zebrafish nervous system.

Scientists have found that a specific defect in the male sex (Y) chromosome, known to cause azoospermia, or the inability to make sperm, can also cause the most common form of male infertility-low sperm production, or oligozoospermia. This study is the first to definitively show that genetic defects can cause low sperm counts in some males and suggests that intracytoplasmic sperm injection (ICSI)—the now popular technology of injecting a single sperm into an egg to circumvent low sperm counts—may cause the sons of these men to inherit infertility.

Dr. Rudolf Jaenisch, a Member of the Whitehead Institute for Biomedical Research, and Dr. Mario Capecchi from University of Utah in Salt Lake City have received the prestigious Molecular Bioanalytic Prize from the Boehringer Mannheim Group in Germany. In awarding this prize, the Group cited the scientists' pioneering work in establishing transgenes as a basic tool for research in molecular biology and medicine.

The Whitehead/MIT Center for Genome Research has received a three year, $26 million grant from the National Institutes of Health (NIH) to begin sequencing specific portions of the human genome. The Center's effort, along with others in the country, launches the final and most important phase of the Human Genome Project-decoding the exact sequence of the 3 billion DNA letters that make up the human being. Ultimately, sequencing the genome will help researchers identify disease-related genes and result in unprecedented advances in health care.