Iran reports progress in treating rare genetic neurological disorders in children

In an interview with ANA News Agency, Reza Shervin Badro, pediatric neurologist and faculty member at Tehran University of Medical Sciences, explained that the human brain is one of the most complex organs in the body, with genetic factors playing a central role in its development. As a result, a large number of neurological disorders in children—affecting both the central and peripheral nervous systems—have a genetic basis.

He noted that disorders can arise across multiple parts of the nervous system, including motor neurons in the spinal cord, peripheral nerves, neuromuscular junctions, and muscle tissue itself. Disruptions in the genes regulating these systems can lead to a wide spectrum of rare diseases.

Badro emphasized the distinction between genetic and inherited diseases, explaining that not all genetic conditions are inherited. Many pediatric neurological disorders result from spontaneous mutations, meaning they may appear without any family history of the disease.

He added that thousands of rare neurological disorders have been identified in children. These include a wide range of developmental and epileptic conditions, many of which are genetically driven. In numerous cases, impaired neurological development is accompanied by seizures as part of the clinical presentation.

According to him, although these disorders can be classified into thousands of genetic subtypes, they are typically grouped clinically into eight to ten main categories based on symptoms and affected systems.

The Iranian specialist highlighted the global shift toward personalized medicine, noting that even within a single rare disease, different genetic mutations can lead to different clinical manifestations, requiring tailored treatment strategies for each patient. Modern medicine, he said, increasingly focuses on treating the root cause of disease rather than merely managing symptoms.

He further explained that enzyme replacement therapy is used in conditions caused by specific enzyme deficiencies, while stem cell transplantation can be an effective option for certain disorders. Other treatments target disrupted molecular and biochemical pathways, and gene therapy represents the most advanced approach, aiming to directly correct underlying genetic defects.

Regarding Iran’s progress, Badro said the country has made significant advances across all these therapeutic areas, including enzyme therapy, stem cell transplantation, advanced pharmaceuticals, and gene therapy research.

He noted that Iran is recognized regionally and internationally for its expertise in stem cell transplantation and has developed numerous biosimilar drugs through knowledge-based companies, reducing treatment costs and improving patient access.

He stressed that early diagnosis plays a crucial role in treatment success. Many genetic diseases can now be detected before birth, while others are identified through newborn screening programs, particularly for inherited metabolic disorders where early intervention can prevent severe complications.

He also pointed to treatable cases, such as certain children presenting with drug-resistant seizures and developmental delays caused by vitamin B6-related disorders. If diagnosed early, these conditions can be effectively managed and long-term neurological damage can be prevented.

However, he cautioned against overestimating current medical capabilities, stating that not all genetic diseases are curable through gene or cell therapy. Treatment decisions, he said, must be based on scientific evidence and individual clinical conditions.

Badro further noted that gene therapy remains extremely expensive globally, with costs reaching several million dollars per patient, and requires extensive research and clinical trials.

In conclusion, he emphasized that Iran has strong potential to advance alongside leading countries in the field, supported by universities, research centers, knowledge-based companies, and the pharmaceutical industry. Strengthening applied research and developing domestic technologies, he said, will reduce dependence on foreign treatments and improve care for patients with rare diseases.