Major Israeli Breakthrough: Scientists Identify the Gene Behind a Devastating Brain Disorder in Newborns

Bnei Zion Medical Center reported today (Tuesday) that an international scientific breakthrough has uncovered the genetic source of a severe neurological disease that causes microcephaly (an abnormally small head), serious brain damage, and early death among infants.

The study, led by Dr. Aadel Shalata, director of the Simon Winter Institute for Human Genetics at Bnei Zion Medical Center, was published in the prestigious scientific journal The American Journal of Human Genetics. It is the result of extensive work by a team of researchers from 10 different countries, who succeeded in identifying mutations in the NRDC (Nardilysin) gene as the direct cause of the disease.

The wide-ranging study identified 14 children from different families around the world, most of them from the Middle East, who suffered from profound developmental delay, seizures, and structural defects in the brain. Most of the diagnosed infants died within the first three years of life as a result of the disease, while some survived but remain in extremely serious condition.

To prove the connection between the gene and the disease, the researchers used fruit fly (Drosophila) models and fibroblast cells taken from patients, demonstrating how the loss of normal NRDC protein function leads to the collapse of vital systems within the cell and causes extremely severe damage to brain development.

Dr. Shalata said upon the publication of the study: "The discovery of the NRDC gene is a medical and human closing of the circle for families who experienced the most terrible loss of all without a clear medical explanation. Our study proves that genetic defects in one basic cellular unit can lead to devastating consequences in the development of the human brain. Now that we have the genetic 'fingerprint' of the disease, we can provide families with an accurate diagnosis, preventive genetic counseling, and hope for preventing the recurrence of the disease in future pregnancies."

The new discovery is expected to be added immediately to the panel of genetic tests offered to at-risk families, making it possible for the first time to carry out precise prenatal diagnosis for this disease. The researchers hope that understanding the biological mechanism of NRDC, which is involved in vital processes in the mitochondria and the cell, will open the door in the future to developing new treatment directions for similar neurological diseases.