A child diagnosed with a rare genetic disorder was successfully treated with a customized CRISPR gene editing therapy by a team at Children Hospital of Philadelphia and Penn Medicine in a historical medical breakthrough.
The landmark study published in The New England Journal of Medicine showcases the power of customized gene editing therapy to treat patients with rare metabolic disease.
Nine-month-old KJ Muldoon was the first patient to be treated with a gene editing technology customized for his rare disease.
"In patients who have urea cycle disorders, they can't break down protein, and unfortunately, what happens is ammonia builds up, and ammonia can be toxic to the brain and cause permanent neurologic damage, Dr. Rebecca Ahrens-Nicklas, of CHOP, said.
https://www.cbsnews.com/philadelphia/news/chop-penn-medicine-gene-editing-therapy
Scientists have created a new gene therapy for a debilitating genetic disorder called maple syrup urine disease (MSUD).
The treatment can prevent recurrence of deadly symptoms in a cow calf born with the disease. Their protocol could one day be translated into a much-needed therapy for patients with two types of classic MSUD,
who currently face limited treatment options. Results were published in Science Translational Medicine.
https://www.thehindu.com/sci-tech/gene-therapy-for-maple-syrup-urine-disease-shows-promise/article69275319.ece
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