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Genetic Cause of Bedouin Children’s Disease Discovered

Genetic Cause of Bedouin Children’s Disease Discovered

July 30, 2008

Medical Research, Negev Development & Community Programs, Press Releases

BEER-SHEVA, ISRAEL – January 9, 2007 – Ground-breaking researchers at Ben-Gurion University of the Negev (BGU) and Soroka University Medical Center in Beer-Sheva have identified the genetic defect responsible for Infantile Neuroaxonal Dystrophy (NAD), a severe and often fatal neurodegenerative disease common in children of the Bedouin people, an Arab formerly nomadic  tribe with a large population in Southern Israel.


Led by Dr. Ohad Birk of the Morris Kahn Laboratory of Human Genetics at the National Institute for Biotechnology in the Negev at BGU, and director of the Genetics Institute at Soroka University Medical Center, the research team discovered the specific gene that causes NAD. Before a molecular basis for the disease was found, pre-natal diagnosis and other genetic tests for the disease were impossible.


Using brain imaging of affected individuals, the research group from BGU found that the individuals’ brains displayed diffuse cerebellar atrophy and abnormal ion deposition. Their research pinpointed the genetic defect that accompanies NAD and concluded that the gene encodes a phospholipase – an enzyme which normally breaks down phospholipids. This defect then causes the degradation of certain phospholipids in the brains of the patients.


“While life-changing for the Bedouin tribe and Israeli people, the consequences of this discovery reach beyond this single disease,” said Dr. Birk. “Finding this defect in the phospholipase enzyme opens up other common and severe neurodegenerative diseases such as Alzheimer’s and Parkinson’s to share in this whole new field of research.”


Children stricken with the debilitating NAD have fine health until their first birthday, after which their neurological function declines until they reach a vegetative state a year later. The children typically live only until 7 to 10-years-old. NAD can be found in several populations around the world, but occurs most often in the children of consanguineous marriages or intermarriages between close relatives such as first cousins.


The research was recently published in the American Journal of Human Genetics along with a similar study done by a research group in the United States, studying the same disease in another population. Dr. Birk’s Israeli research team included doctorate student Shareef Khateeb, as well as Dr. Hagit Flusser, Dr. Rivka Ofir and other members.


BGU’s Morris Kahn Laboratory at the National Institute for Biotechnology in the Negev focuses on unraveling the molecular basis of hereditary human diseases based on studies of unique inbred communities in Southern Israel. The research results are immediately implemented as genetic tests made available to the community, promoting community welfare. Over the past two years, the research team has discovered the links between eight genes and human diseases and introduced more than two dozen novel genetic tests.

About American Associates, Ben-Gurion University of the Negev

American Associates, Ben-Gurion University of the Negev (AABGU) plays a vital role in sustaining David Ben-Gurion’s vision: creating a world-class institution of education and research in the Israeli desert, nurturing the Negev community and sharing the University’s expertise locally and around the globe. As Ben-Gurion University of the Negev (BGU) celebrates its 50th birthday this year, AABGU imagines a future that goes beyond the walls of academia. It is a future where BGU invents a new world and inspires a vision for a stronger Israel and its next generation of leaders. Together with supporters, AABGU will help the University foster excellence in teaching, research and outreach to the communities of the Negev for the next 50 years and beyond.

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