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NEW GENE FOR MENTAL RETARDATION DISCOVERED

SCHNEIDER CHILDREN'S EXPERTS AWARDED PRIZE BY THE ISRAEL GENETICS SOCIETY:

The Israel Genetics Society awarded a prize in September 2005 to experts at Schneider Children's Medical Center for their discovery of a new gene causing mental retardation. The results of the research were presented in October at the Conference for the American Society of Human Genetics in Salt Lake City, USA. The research also received an award from the Israeli Pediatricians Association and was conducted by Prof. Motti Shohat and Dr. Lina Basel of the Genetics Institute at Schneider Children's together with the staff at the Felsenstein Medical Research Center.

There are one in ten carriers of the abnormal gene in today's at-risk population, and identification of the gene will allow prevention of the disease's manifestation in this sector. This significant discovery contributes towards understanding of the biological mechanisms in the development of mental retardation and furthermore promotes early diagnosis and prevents the birth of children with the disorder.

The three-year research was conducted among families from Arab descent because many of their children suffer from severe mental retardation. Mental retardation is expressed in patients by motor developmental delay, speech inability, communication deficiency and dependency. The researchers initially located the defective gene on chromosome 19, after which they identified the gene itself. The biological function of the new gene called CC2D1A was previously unknown.

As mentioned, the identification of the gene will accord the prevention of the disease in the population at risk. The mother first undergoes a genetic blood test. In the event that she is found to be a carrier of the genetic mutation, a carrier test is also conducted on the father. Should both spouses be carriers, a genetic test is conducted on the fetus in the 10^th week of pregnancy.

According to Prof. Motti Shohat, Director of the Genetics Institute at Schneider Children's, "discovery of the gene causing mental retardation is very significant in the early diagnosis of the disease and contributes towards understanding the biological process leading to the disease's development. The finding is even more important relative to the extremely high incidence of the disease among the population at risk."

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