Gene Therapy For Inherited Disease In Infants

Forbes

02-06-2025

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat ... More inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth.
For the first time, we are witnessing therapies that can fundamentally alter the course of inherited disease lifelong. The most recent breakthrough describes treating inherited disease in infants. In a case in Nature Medicine, a premature baby with a devastating genetic epilepsy syndrome achieved a 60% reduction in life-threatening seizures following treatment with an experimental therapy.
This is the first installment in a two-part series describing the opportunities for correcting inherited defects before and immediately after birth. These therapies have provided a chance for those inherited diseases to be treated. Part 1 focuses on the treatment of a newborn. In contrast, Part 2 examines novel applications in the uterus as fetuses before they are born.
Today, doctors can spot many genetic changes long before they cause problems. Sometimes, this is done through a noninvasive blood test from the mother during pregnancy or from a tiny drop of blood taken from a newborn's heel. These samples are analyzed using powerful genetic sequencing tools to search for signs of hundreds of inherited diseases quickly and accurately.
With the help of artificial intelligence, doctors can screen for hundreds of conditions rapidly and accurately, making early detection more accessible than ever before. My new book explores how these breakthroughs are changing the lives of children and adults alike. For some families, this early detection is life-changing.
In a recent case, a newborn began having seizures just days after birth. Using rapid genome sequencing to look for changes in the baby's DNA, they searched for anything that might explain the symptoms. They found a mutation in a gene known to cause a rare form of severe epilepsy.
The ongoing electrical chaos caused by the mutation impairs brain development. The seizures can also cause delays or regressions in motor skills, language, and social interaction. Additionally, many suffer from sensory issues, losing the ability to track objects visually or respond to sounds. The discovery of the mutated gene allowed them to move quickly to the next step: targeted treatment.
More tools than ever before are available to address the root cause when a concerning genetic change is detected. In this case, they used an innovative therapy designed to "quiet" the faulty gene, aiming to reduce the baby's seizures. In the reported case, the preterm infant receiving the therapy saw seizure frequency plummet from 20–25 hourly events to just 5–7.
Current data showed that the therapy's effects waned after 4–6 weeks due to declining concentrations of the medicine, requiring repeat injections. The therapy proved safe over 20 months, and 19 treatments were performed, with no severe side effects observed. There is also strong clinical evidence of this treatment being effective in multiple animal models, though there are still challenges.
Finding optimal dosing intervals for preterm infants is particularly challenging, as their rapid growth can significantly affect drug metabolism. Furthermore, frequent dosing risks overwhelming infant systems, while longer intervals may allow seizures to reappear and jeopardize developmental progress. Early trials indicate that monthly infusions might help maintain therapeutic levels.
Safety is also a top priority as these therapies advance. While early trials have not reported organ toxicity or immune reactions, the long-term effects of chronic treatment with this therapy in developing brains remain uncertain. Prolonged exposure could disrupt key cognitive development processes. Still, the implications are profound.
This case is more than a single success—it signals a paradigm shift. As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life. Tomorrow, we will intervene before birth.
These kinds of breakthroughs are no longer a distant dream. Science and medical research are still pushing the cutting edge. Already, fetal surgeries have corrected structural defects in utero or the womb. The next leap is here: treating inherited disorders at the molecular level before a child is even born. The following story in this series will highlight the first successful use of gene therapy to treat spinal muscular atrophy before birth. The impact is profound for these children and their families. Early intervention can prevent irreversible damage, offering the potential for a normal childhood and a dramatically improved quality of life.
As costs fall and technology improves, all newborns could soon have their DNA sequenced, enabling targeted treatments at the earliest and most effective stage. Over time, this approach will expand access, reduce the burden of inherited disease, and reshape the future of human health care.
One profound question remains: If we correct a genetic error in a child, will that change be passed on to future generations? For now, most therapies target the body's somatic cells, not the germline—but as our tools improve, the possibility of heritable cures edges closer, raising hope and new ethical questions.
As we stand at the frontier of precision neurology, cases like this illuminate a path forward. For families facing rare genetic epilepsies, this medicine offers more than seizure control. They provide a lifeline to cognitive and developmental gains previously deemed unattainable. While larger trials are needed, the era of disease-modifying therapies for pediatric brain disorders has unequivocally begun. Part 2 will delve into how correcting genetic errors before birth could rewrite the trajectory of inherited diseases.