{"id":19012,"date":"2025-04-06T19:00:53","date_gmt":"2025-04-06T16:00:53","guid":{"rendered":"https:\/\/reganews.co.il\/en\/?p=19012"},"modified":"2025-04-06T16:33:37","modified_gmt":"2025-04-06T13:33:37","slug":"researchers-in-haifa-identify-gene-behind-rare-fatal-infant-disease","status":"publish","type":"post","link":"https:\/\/reganews.co.il\/en\/researchers-in-haifa-identify-gene-behind-rare-fatal-infant-disease\/","title":{"rendered":"Researchers in Haifa Identify Gene Behind Rare Fatal Infant Disease"},"content":{"rendered":"

A major breakthrough at Bnai Zion Medical Center: A research team led by Dr. Adel Shalata, head of the Genetics Department, has identified a new gene\u2014TIMM29\u2014as the cause of Sengers syndrome, a rare and fatal genetic condition in infants. The disease affects mitochondrial function, leading to muscle weakness, heart failure, cataracts, and early death.<\/p>\n

\"\"
Illustration | Photo: Keren Freeman\/Flash90<\/figcaption><\/figure>\n

The comprehensive study, conducted in collaboration with researchers in Israel and abroad, showed that damage to the gene disrupts cellular energy production. A fruit fly model demonstrated symptoms similar to those seen in affected infants.<\/p>\n

\u201cThis research is a significant step toward preventing the disease and improving genetic diagnosis in the community,\u201d said Dr. Shalata. \u201cOur next goal is to expand genetic screening.\u201d<\/p>\n

\"\"
Photo: Micha Brickman<\/figcaption><\/figure>\n

Hope for the Future<\/strong>
\nTo date, 17 cases of infant deaths from the disease have been recorded in Israel. The discovery will allow carrier testing among parents and the prevention of affected births through advanced fertility methods. Bnai Zion expressed pride in the breakthrough, which could save lives.<\/p>\n","protected":false},"excerpt":{"rendered":"

Researchers in Haifa have identified the gene responsible for Sengers syndrome, a severe genetic disorder that causes early childhood death. 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