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6 May, 2008

The study of rare inherited disorders offers unique opportunities to get insight into basic biological processes of potential relevance to extremely common diseases in humans. A study, led by Prof. Eli Sprecher of Rambam Medical Center and the Rappaport Institute and Faculty of Medicine at the Technion, and published this month in the prestigious American Journal of Human Genetics, remarkably illustrates this principle.


The story started about 2 years ago when a large Israeli family was referred for genetic counseling to Drs. Ronen Spiegel and Stavit Shalev, at Ha’emek Medical Center, Afula. The family presented with a complex disease, unknown to the medical world, including absence of hair (Alopecia), Neurological defects and hormonal deficiencies (Endocrinopathy), which gave to this new disorder its name: ANE syndrome. Using a panoply of advanced technologies, Janna Nousbeck, a PhD candidate in Sprecher's lab, and co-workers succeeded in demonstrating that ANE syndrome results from the absence of a small molecule called RBM28. The deciphering of the molecular basis of a disease is in itself an important finding. Sprecher and his group went even further, investigating the underpinning of the role played by RBM28 during tissue development. With the help of a Japanese collaborator, Dr. Akemi Ishida-Yamamoto, they discovered that the molecule lacking in ANE syndrome, plays a crucial role in the assembly of ribosomes, the factories for protein synthesis in every cell of the body. Thus, through the study of an exceedingly rare disorder, the Rambam-Technion group has identified the cause of this new disease, allowing for proper genetic counseling to be provided to the unfortunate family; while at the same time shedding new light upon a very fundamental biological process. This discovery, which constitutes a breakthrough in our understanding of cell biology, is part of a long-standing effort carried out by Sprecher's group over the past decade, which has led so far to the elucidation of the cause of no less than 9 genetic diseases.

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