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Tracking the PCCA Gene in Sephardim

Tracking the PCCA Gene in Sephardim

May 20, 2011

Medical Research

The Jewish Week — Prof. Ohad Birk, head of the Genetics Institute at Soroka University Medical Center and The Morris Kahn Lab of Human Genetics at Ben-Gurion University of the Negev, is collaborating with patients and other scientists to identify the gene that causes a devastating disease found among Jews of Iraqi and Moroccan descent.

Prof. Ohad Birk

Prof. Ohad Birk

Progressive Cerebro-Cerebellar Atrophy (PCCA) is a disease characterized by the progressive wasting away of cells throughout the brain, causing severe retardation by the age of one or two.

Children with the disease appear normal at birth, but soon develop spasticity (stiffness of the body, especially in the arms and legs), and most of them also have epilepsy.

Prof. Birk has done a great deal of research among the populations found in the Southern part of Israel, especially the Bedouins.

Four years ago he began a study of Moroccan and Iraqi Jewish families, where PCCA was presenting itself. He found that one in 40 Moroccan Jews and one in 40 Iraqi Jews are carriers of a mutated gene that causes this disease.

“This is significant, given that there are about 1 million North African and Iraqi Jews in the world,” says Prof. Birk who is now working for a cure.

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