Hadassah’s scientists discovered a new disease
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A neurologic disease that occurs in children aged 3-7 years
Scientists from the University Hospital of Hadassah and the Hebrew University in Jerusalem found a gene defect leading to severe neurologic disease. The scientists for two years investigated the disease that occurs in children aged 3-7 years. The result of the research was published in the most prestigious journal of the US devoted to human genetics: “American Journal of Human Genetics” (www.cell.com/ajhg/abstract/S0002-9297(17)30280-X). In their article, scientists describe the way to solve the puzzle of the disease in children from different countries of the world: Israel, Russia, Canada, the United States and France.
Orly Elpeleg – a professor at the Hebrew University and head of a group of researchers from Hadassah, explained that this disease was not previously identified as a disease and was not mentioned in textbooks. The attention of researchers was attracted by the case of a three-year-old girl, who was admitted to Hadassah for treatment. The girl had signs of illness: absolutely incomprehensible motor dysfunctions appeared, she gradually lost the opportunity to speak and she developed severe cognitive disorders.
At the same time, “Hadassah” began using a new advanced DNA sequencing technique. This allowed scientists to read the girl’s genome and find her gene defects responsible for her child’s health condition. “This check has been carried out in Hadassah since 2010. We conduct gene sequencing for each child”, Professor Elpeleg told. As a result, in Hadassah, there is a bank of genetic maps of 2400 patients, and the staff began to check whether there are any patients with similar symptoms of the disease. “To our surprise, we found one such child with a genetic defect,” Professor Elpeleg said. “It was amazing – a nine-year-old girl whom we treated earlier, today lives in Russia, she has exactly the same symptoms of the disease since she was 5. At this stage it became clear to us that we discovered a new disease”. “Dr. Edwardson, confirmed that both patients had the same disease. The data were entered into an international gene bank, and within a few hours we found 4 children around the world that had this gene defect present. And the same symptoms. Until a certain age, they were completely healthy and then there was a sharp deterioration in the condition.
“Absolutely healthy children, at first glance, begin to limp, forget words and gradually turn into children with a severe defect, and then become completely incapacitated. The additional importance of research – finding a defective gene site can be the key to recovery. Science cannot yet correct the gene, but it can possibly stop its reproduction.”
For more than 100 years, Hadassah University Hospital in Jerusalem (www.hadassah-med.com) has been a leader in medicine and nursing in Israel, laying the foundation and setting the standards for the country’s modern health care system. The majority of medical breakthroughs in Israel have taken place there. With more than 130 departments and clinics, Hadassah-Ein Kerem provides Israel’s most advanced diagnostic and therapeutic services for the local and national population and a significant number of international patients.
