Gone (gene) Fishing


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Prof. Jacqui Beckmann, population goldmine


Born and raised in Belgium but pretty much a globetrotter ever since, Prof. Jacqui Beckmann has spent nearly 30 of his 50+ years hunting for genes. The former Associate Director of the French National Genotyping Center, and a leading molecular geneticist, Beckmann's gene sleuthing has included mapping the genes that cause limb girdle muscular dystrophy, kidney disease, mature onset diabetes, and hypertension.


With a rough blueprint of the genes encoding the human body made available by the Human Genome Project, and a flood of findings about what happens when things go wrong in genes, pharmaceutical companies are rushing to develop new medical treatments and technologies. The proposed scenarios vary, including a routine test by your family doctor showing your potential 'future health ID' coupled with suggestions of how to skirt unlucky genetic cards through diet, medication, or even gene therapy. Across the board, however, scientists and physicians agree that within a few decades the growing insights into what makes us tick, genetically speaking, will change the face of medicine.


'It's becoming increasingly clear that virtually all diseases have a genetic component,' says Beckmann, who recently joined the Institute's Crown Human Genome Center. 'Genes play a decisive role in Tay-Sachs, a fatal neurodegenerative disorder, whereas they are only contributing factors in heart disease or diabetes. But even infectious diseases, like AIDS or the common flu, have a genetic element, influencing one's susceptibility to the disease and/or response to it.'


This growing understanding will have a widespread influence on future medical trends. Having uncovered a genetic deficiency leading to, for instance, kidney disease will help us develop new means of targeting the root cause. The next, more dramatic step is that of personalized medicine.


Future therapies will address the fact that we all experience disease differently. A by-product will be that today's 'common disease' will be regarded as a cluster of 'minor diseases.' Diabetes will not be diabetes per se, it will be subdivided into its various categories, with each patient treated according to his or her specific pathology and genetic make-up.


One of the research areas that Beckmann plans to pursue here at the Institute is population genetics. 'Israel is a genetic goldmine,' he explains. 'Its population is highly diverse but also highly homogeneous within each ethnicity. This homogeneous 'back-drop' offers ideal conditions for zeroing in on mutated, disease-causing genes - those responsible not only for common Jewish genetic disorders but also leading diseases worldwide. These include cancer as well as cardiovascular and autoimmune diseases, which are often multifactoral.


Beckmann: 'Research efforts have undergone a major shift in their inherent paradigm - away from the classical laboratory structure of a research team working around hypothesis-driven topics and toward highly automated throughput production. Conceived and polished to an art during the Human Genome Project, the strategy is first to get large amounts of data and then decide how to proceed. In this respect Israel can't hope to compete with genetic research giants such as the United States, Germany, and France; but it does have a head start when it comes to applying this new approach, thanks to its unique population structure.'