Un beb\u00e9 con una enfermedad gen\u00e9tica devastadora est\u00e1 prosperando despu\u00e9s de convertirse en la primera persona conocida en recibir una\u00a0terapia CRISPR personalizada, dise\u00f1ada para corregir su mutaci\u00f3n espec\u00edfica causante de la enfermedad. Se trata de un enfoque ambicioso que los investigadores esperan que inspire a otros a utilizar CRISPR para tratar enfermedades gen\u00e9ticas ultrarraras. \u00abEste es realmente el futuro de todas estas terapias g\u00e9nicas y celulares\u00bb.<\/p>\n
A baby boy with a devastating genetic disease is thriving after becoming the first known person to receive a bespoke,\u00a0CRISPR therapy<\/a>-for-one, designed to correct his specific disease-causing mutation.<\/p>\n Little KJ Muldoon, now nearly ten months old, is doing well after receiving three doses of a\u00a0gene-editing treatment<\/a>\u00a0to mend a mutation that impaired his body\u2019s ability to process protein, his parents told reporters this week. But it is too soon to use the word \u201ccure\u201d, says Rebecca Ahrens-Nicklas, a pediatrician at Children\u2019s Hospital of Philadelphia in Pennsylvania, and one of Muldoon\u2019s physicians. \u201cThis is still really early days,\u201d she says. \u201cWe know we have more to learn from him.\u201d<\/p>\n To reach this point, an international team of clinicians and researchers in industry and academia, with support from US government funders and regulatory agencies, raced to develop Muldoon\u2019s therapy in a mere six months. Yet, the drug that it developed, described in the\u00a0New England Journal of Medicine<\/i><\/a>\u00a0<\/i>on May 15, is specific to Muldoon\u2019s genetic sequence and will probably never be used for another person, says Ahrens-Nicklas.<\/p>\n It\u2019s an ambitious approach that researchers hope will inspire others to harness CRISPR to treat ultra-rare genetic diseases. \u201cThis truly is the future for all of these gene and cell therapies,\u201d says\u00a0Arkasubhra Ghosh, who studies gene therapy<\/a>\u00a0at Narayana Nethralaya Eye Hospital in Bengaluru, India, and who was not involved in the study. \u201cIt\u2019s really exciting.\u201d<\/p>\n Early illness<\/strong><\/p>\n Dozens of people have received\u00a0CRISPR-based therapies for genetic conditions such as sickle-cell anaemia<\/a>, but those treatments were designed to be used in many people with the same disorder, regardless of the underlying mutations that caused it. By contrast, researchers tailored Muldoon\u2019s therapy to correct a specific genetic sequence in his genome.<\/p>\n Muldoon had inherited two mutations, one from each parent, that meant that he did not produce the normal form of a crucial enzyme called carbamoyl phosphate synthetase 1 (CPS-1). This compromised his ability to process the nitrogen-containing compounds produced when the body breaks down protein. As a result, his blood had high levels of ammonia, a compound that is particularly toxic to the brain.<\/p>\n The best treatment for CPS-1 deficiency is a\u00a0liver transplant<\/a>, but it would be months before Muldoon became eligible. Meanwhile, each day brought added risk of brain damage or death: only about half of babies with severe CPS-1 deficiency survive long enough to receive a transplant.<\/p>\n