A Global Palestinian Medical Achievement: Dr. Mahmoud Ruzayqat Identifies a Genetic Mutation Causing a Rare Disease in a Family that Lost 13 Children

SadaNews - The Palestinian researcher and specialist in genetics and hereditary diseases, Dr. Mahmoud Ruzayqat, has achieved a scientific milestone by successfully identifying a genetic mutation that causes a rare disease in a Palestinian family from Hebron Governorate. This discovery was documented in a scientific study and recorded in the databases of the U.S. National Center for Biotechnology Information (NCBI), one of the leading global platforms for indexing medical and genetic research and data.

The NCBI has cataloged the disorder under the name "Ruzayqat's NCAM1 Related Neurological Disorders," named after Dr. Mahmoud Ruzayqat, following the documentation of the scientific discovery and its linkage for the first time to a mutation in the NCAM1 gene. This step reflects scientific recognition of the Palestinian research contribution in the field of rare genetic diseases.

The story began in 2022 when Dr. Mahmoud Ruzayqat started following up on the case after traditional medical tests failed to determine the genetic cause of the disease that was taking the lives of the family's children one after the other.

Over several years of clinical follow-up and advanced genetic analyses, Ruzayqat and his team identified the genetic mutation causing the disease and arrived at an accurate genetic diagnosis of the case. This later allowed for the application of genetic testing for embryos and the selection of healthy embryos before implantation, adding new knowledge to global studies in the field of rare genetic diseases.

The study revealed the tragic human experience of the family, which lost 13 children who exhibited the same symptoms at birth without previously reaching an accurate scientific explanation for their deaths, making the case one of the most complicated genetic conditions.

This discovery has altered the course of dealing with the disease, as it has become possible to diagnose cases early and implement medical follow-up programs and genetic counseling for families at risk of transmitting the disease. Dr. Mahmoud Ruzayqat led the embryonic diagnosis and genetic testing before implantation, which enabled the selection of healthy embryos and their transfer in cooperation with a specialized assisted fertilization center, resulting in the birth of two healthy babies free from the genetic mutation causing the disease, alongside a baby currently under medical supervision.

Dr. Ruzayqat stated that genetic tests were conducted in the "Genome" laboratories he manages in Palestine and Jordan, while collaborating with the Italian fertility lab, which contributed to the birth of healthy children free from the genetic mutation causing the disease.

He added that the significance of this achievement extends beyond this family to other families that have begun to visit the lab to benefit from genetic tests and genetic counseling, contributing to early diagnosis and prevention of recurrence in future generations.

This discovery is considered a significant scientific milestone in Dr. Ruzayqat’s career, as it formed the scientific basis for his thesis for which he obtained his PhD in Molecular Genetics from the Italian University of Salerno, succeeding in identifying the genetic mutation causing this rare disease and contributing to the advancement of scientific knowledge in the field of genetic diseases.

This achievement reflects the growing status of Palestinian researchers in the field of genetic medicine and their ability to contribute to the development of scientific knowledge through discoveries that open new horizons for diagnosing rare genetic diseases, enhancing opportunities for prevention and treatment, and improving the quality of life for patients and their families.