Amman – Abdul Hameed Shoman Foundation Cultural Forum hosted internationally renowned Lebanese American neuroscientist and geneticist Professor Huda Zoghbi, one of the world's leading researchers in neuroscience and genetics, for a lecture titled "Rett Syndrome: From Gene Discovery to Treatment Development."
Zoghbi's participation in the Forum coincided with her visit to Jordan to receive the inaugural Abdul Hameed Shoman Award for International Scientific Excellence, in recognition of her exceptional contributions to neuroscience and genetics and the global impact of her discoveries.
The session, introduced and moderated by Professor Saeed Ismail, brought together academics, researchers, physicians, students, members of the public, and families of children with Rett syndrome. The event provided a unique opportunity to engage directly with a scientist whose discoveries fundamentally transformed the understanding of neurodevelopmental disorders.
During the lecture, Zoghbi reflected on her scientific journey studying Rett syndrome, explaining that her interest in the disorder began in 1983 during her pediatric neurology training when she encountered two girls with similar symptoms, including loss of language and motor skills and repetitive involuntary hand movements. The experience prompted her to investigate the causes of the rare condition and launched a decades-long research journey.
She described how years of studying cases and reviewing medical records led her to conclude that Rett syndrome was caused by a genetic defect, particularly because it affects females almost exclusively. In 1999, she and her research team identified mutations in the MECP2 gene as the cause of Rett syndrome, a landmark discovery that transformed scientific understanding of the disorder, enabled genetic diagnosis, and opened new pathways for research and treatment development.
Zoghbi noted that identifying the causative gene enabled the development of genetic tests for early diagnosis, improved understanding of the disorder and its varying symptoms, and advanced scientific knowledge of how genes influence brain development and neurological function.
“The discovery of the MECP2 gene transformed our understanding of Rett syndrome and opened entirely new possibilities for studying brain function and developing targeted therapies,” Zoghbi said.
She also reviewed major research advances achieved over recent decades and ongoing efforts to develop therapies targeting the underlying genetic causes of the disorder. Emphasizing the importance of continued scientific research, she highlighted how progress in neurogenetics is creating new possibilities for improving the lives of patients and their families.
Beyond its significance for Rett syndrome, Zoghbi explained that research into the disorder has contributed to broader scientific understanding of neurological and neurodevelopmental conditions. Insights gained through studying the disease continue to inform new research directions and potential therapeutic approaches across the field of neuroscience.
One of the most moving aspects of the evening was the presence of families of children living with Rett syndrome. Their participation highlighted the profound human impact of scientific research and underscored the hope that ongoing discoveries offer to affected children and their loved ones.
The lecture concluded with an interactive discussion involving physicians, students, researchers, interested members of the public, and families of children with Rett syndrome. The conversation explored key challenges in genetic neurological disorders and emphasized the importance of investing in scientific research and strengthening collaboration among laboratories and academic institutions worldwide to accelerate discoveries and translate them into effective treatments.
The event forms part of the Abdul Hameed Shoman Foundation's efforts to make scientific knowledge accessible to wider audiences and create opportunities for dialogue between internationally distinguished scientists, the research community, and the public. Through such events, the Foundation continues to strengthen public engagement with science and promote awareness of research that addresses critical global health challenges.