A team of Israeli scientists led by Dr. Karl Skorecki have made a major discovery which links a specific genetic mutation to kidney disease. The full article can be found here on the Arutz Sheva website.
Dr. Karl Skorecki was born and raised in Toronto. He earned his medical degree from the University of Toronto in 1977 then moved to the U.S. for his post-graduate clinical and research training. In 1995, Dr. Skorecki moved with his family to Israel where he joined the Technion Faculty of Medicine and has been conducting research in the field of population genetics, both in general and as it pertains to specific diseases.
According to Dr. Skorecki, about five thousand patients in Israel are affected with end stage kidney disease (ESKD), which is the most lethal stage of the disease. He estimates that there are about 50,000 patients in Israel who suffer from lesser stages of the disease, which, although not as lethal, still result in complications.
Currently, treatment options for kidney disease include dialysis and transplant, neither of which are completely effective. In both cases, the patient suffers a lower quality of life and reduced life expectancy. Because of this, Dr. Skorecki and his team set out to find a genetic link to the cause of kidney disease in the hopes that they could develop techniques for its prevention.
Dr. Skorecki observed that there is a notable variance in the rate of kidney disease depending upon which ethnic group is considered. This led them to suspect that there may be a genetic connection to the disease. Groups from the Technion Faculty and the Rambam Medical Center began researching this link and published a paper in 2006 with their findings. What they discovered was that a mutation of the APOL-1 gene is responsible for up to 70% of kidney disease. According to Dr. Skorecki, if the cause of this mutation could be isolated and prevented, this would in turn prevent a majority of kidney disease.
Dr. Skorecki has also done research in the field of population genetics as it pertains to Jewish people. He found that the Jewish genome is remarkably similar to the peoples of the Levant (Lebanese, Palestinians, Druse, and Cypriots). Skorecki notes that this stands in sharp contrast to the notion that Jews have little or nothing to do with the Near East.
The article is written by Eli Stutz and was published on the Arutz Sheva website on September 12, 2010. As it is a science article, it is fairly unlikely that there is some kind of bias in it. It chooses to focus on a prominent scientist who made aliyah to Israel, probably in large part due to the fact that Arutz Sheva is considered a Zionist media outlet, but I do not believe this compromises the validity or integrity of the article. It was well written, very concise and organized. The quotations it included were relevant and well chosen.
The main criticism I would make of the article is that, although it was published very recently, it is somewhat unclear as to when these discoveries were made. The article does mention that the research paper produced by the Technion and Rambam Centers was published in 2006, but it is slightly ambiguous as to whether it was that paper or subsequent findings by Dr. Skorecki that solidified the link between the APOL-1 gene and kidney disease. The reason for this ambiguity is that the language of the introduction (as well as the lead-in to the section on the Jewish genome which mentions "another recent discover...") makes it sound as if this is breaking news, but upon further reading of the article it appears that the 2006 paper may have been the foundation of the new discovery. Overall, however, this is fairly insignificant shortcoming of the article.
Hopefully Dr. Skorecki and his team are successful in their attempt to block the APOL-1 mutation. Perhaps further coverage will follow.
Sunday, September 12, 2010
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