『#416 How Baby KJ Became the First Patient Treated With Personalized CRISPR』のカバーアート

#416 How Baby KJ Became the First Patient Treated With Personalized CRISPR

#416 How Baby KJ Became the First Patient Treated With Personalized CRISPR

無料で聴く

ポッドキャストの詳細を見る
CRISPR has carried enormous promise since scientists first realized its potential to edit the human genome, but it has also raised some of the biggest ethical questions in modern genetics. In this episode, Kira Dineen sits down with Dr. Kiran Musunuru to trace the evolution of human gene editing, beginning with the controversial 2018 announcement that scientist He Jiankui had used CRISPR to edit human embryos in China, resulting in the birth of the world’s first gene-edited babies. The experiment, which targeted the CCR5 gene in an attempt to reduce susceptibility to HIV, sparked international condemnation and intensified debate over germline genome editing, where genetic changes could potentially be passed on to future generations. From there, the conversation shifts to a dramatically different application of CRISPR: treating serious genetic disease in an individual patient. Dr. Musunuru shares the remarkable story of Baby KJ, who was born with severe carbamoyl phosphate synthetase 1 (CPS1) deficiency and became the first patient to receive a personalized CRISPR-based therapy designed specifically for his genetic variant. The team developed KJ’s customized base-editing treatment in approximately six months, moving from identification of his variant through preclinical testing, manufacturing, regulatory review, and ultimately treatment. Dr. Musunuru explains how KJ’s therapy works, what researchers have learned from his response so far, and whether his case could establish a new pathway for treating patients with ultra-rare genetic conditions who may never fit into a traditional drug-development model. This interview was recorded in person at AGBT Precision Health in Coronado, California, we caught up with Dr. Musunuru after a presentation. Episode Discussion Topics: The 2018 announcement of the world’s first CRISPR-edited babies in ChinaWhy He Jiankui’s experiment targeting the CCR5 gene sparked global scientific and ethical backlashThe difference between editing embryos and germline cells versus editing somatic cells in a patientWhat the CRISPR babies controversy taught the scientific community about oversight, regulation, and responsible use of gene-editing technologyHow the field of CRISPR medicine has evolved since 2018How naturally occurring PCSK9 variants helped reveal a powerful target for lowering LDL cholesterol and preventing cardiovascular diseaseUsing CRISPR base editing to permanently turn down PCSK9 activity in the liver as a potential one-time treatment for high cholesterolThe development of PCSK9 gene-editing therapies for patients with familial hypercholesterolemia and premature coronary artery diseaseThe possibility of moving cardiovascular care from lifelong medications to durable, one-time genetic treatmentsHow cardiovascular gene editing helped pave the way for applying similar base-editing technology to rare diseases like Baby KJ’s CPS1 deficiencyWhat CPS1 deficiency is and why it can become life-threatening shortly after birthHow Baby KJ’s diagnosis created an opportunity to pursue a personalized gene-editing treatmentWhy KJ’s specific genetic variant was a candidate for base editingHow base editing differs from traditional CRISPR approaches that make double-stranded breaks in DNADeveloping a gene-editing therapy specifically for a single patientDelivering the gene editor to liver cells using lipid nanoparticlesWhy the liver is an especially promising target for in vivo gene-editing therapiesThe collaboration between researchers, clinicians, biotechnology companies, regulators, and KJ’s family that made the treatment possibleNavigating FDA review for a therapy that had never previously been given to a humanWhy KJ received multiple doses of the therapyEarly signs that the treatment was having an effect, including increased dietary protein tolerance and reduced dependence on nitrogen-scavenging medicationWhy researchers are careful not to describe KJ’s treatment as a cureThe importance of long-term monitoring for both effectiveness and potential safety concernsEvaluating off-target editing and other potential risks of personalized gene-editing therapiesWhether creating an individual therapy for a single patient can realistically become scalableMoving from an “N-of-1” treatment toward gene-editing platforms that could be adapted for multiple patients with different variantsHow regulatory frameworks may need to evolve for personalized genetic medicinesWhich other rare genetic diseases could potentially benefit from this approachWhat Baby KJ’s story could mean for the future of precision medicine and gene editing About Dr. Kiran Musunuru Kiran Musunuru, MD, PhD, MPH, ML, MRA, is the Barry J. Gertz Professor for Translational Research at the Perelman School of Medicine at the University of Pennsylvania. He is Director of the Genetic and Epigenetic Origins of Disease Program within the Penn Cardiovascular Institute, Scientific Director of the Penn Center ...
adbl_web_anon_alc_button_suppression_t1
まだレビューはありません