Dr. Abdulrazak Alali, chief of the medical genetics and personalized medicine program at WVU Medicine Children’s, said doctors will be using personalized gene therapies to treat patients with many rare diseases, primarily infants and children, within the next decade. (WVU Photo/Davidson Chan)
A West Virginia University expert said the custom gene-editing treatment that saved the life of a Pennsylvania baby with a rare genetic disorder — the first successful treatment of its kind in the world — could become common practice within the next decade.
Dr. Abdulrazak Alali, a clinical and biochemical geneticist in the WVU School of Medicine Department of Pediatrics, explained that “bespoke” gene-editing therapy is individualized and tailored to fit a patient who has a distinct mutation in a specific gene.
It’s a treatment designed for one patient only, like in the case of KJ Muldoon, an infant from Clifton Heights, Pennsylvania, who was born with a rare genetic disorder that prevented his body from breaking down ammonia, exposing him to increasing levels of toxins that could damage his brain and liver.
In a breakthrough earlier this year, Children’s Hospital of Philadelphia and Penn Medicine successfully provided KJ the made-to-order therapy: an altered form of his DNA, in which just a single component of his genome relating to his disorder had been changed.
Quotes:
“The term ‘genetic condition’ or ‘genetic disease’ includes thousands of human diseases caused by specific mutations that could be inherited from a parent or both parents — or even not inherited at all, in what are called ‘de novo mutations.’ All such conditions are theoretically curable by gene editing.
“On the other hand, genetic conditions called ‘chromosomal disorders’ are not caused by specific mutations. Rather, large regions of specific chromosomes are affected. Such conditions are not amenable to gene therapies at this point since there are no specific mutations to edit.
“Gene editing is not age-restricted, so it could help adults as well as infants. However, we need to remember that many genetic conditions are progressive, and by adulthood, huge damage could have taken place. In many examples, damage is irreversible — liver failure or intellectual disability, for instance. For this reason, gene editing is typically implemented in children.
“The major concern for gene editing is something called ‘off-target mutations,’ which is when the technology used in gene editing — CRISPER-Cas9, for example — causes mutations in other regions of DNA, possibly resulting in a new genetic condition or even a risk for cancer. However, the technology has been shown to have a high safety profile so far.
“For years, we have said gene therapy was coming. Now, I can say with confidence that with the fast diagnosis of genetic conditions, the advances in technology and the support from many family foundations, gene editing will become a common practice in the next five to 10 years, if not sooner.
“If you or your child has a genetic condition, the light at the end of the tunnel is coming closer. It is not just a hope anymore, it is happening right now.” — Dr. Abdulrazak Alali, clinical and biochemical geneticist, Department of Pediatrics, WVU School of Medicine, and chief of medical genetics and personalized medicine, WVU Medicine Children’s
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