Thriving at PSOM

(Season 3, Ep. 8) From Discovery to First-in-Human Therapy: A Conversation with the Team Behind Infant KJ's Treatment

46 min · 20 de mar de 2026
Portada del episodio (Season 3, Ep. 8) From Discovery to First-in-Human Therapy: A Conversation with the Team Behind Infant KJ's Treatment

Descripción

What happens when medicine, technology, and innovative minds come together to save an individuals life? Baby KJ born in 2024 in Philadelphia with an extremely rare and life-threatening genetic disorder called CPS1 deficiency, which affects the body's ability to remove ammonia. In a combination of fortune, advancing technology, and a world class medical team, Dr. Kiran Musunuru, MD, PhD, MPH, ML, MRA, (Barry J. Gertz Professor for Translational Research, Director of the Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program, and Scientific Director of the Penn Center for Inherited Cardiovascular Disease, Hospital of the University of Pennsylvania), and Dr. Rebecca Ahrens-Nicklas, MD, PhD, (Assistant Professor of Pediatrics (Human Genetics), Director of Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, and Associate Chief for Research, Division of Human Genetics at CHOP and UPenn) were able to bring their years of research in personalized gene-editing therapy using CRISPR to a first in-human innovation. Alongside host Meryl Cohen, they discuss how CRISPR and gene therapy is sitting at the forefront of medical innovation. highlighting how the technology was used to help baby KJ. They also talk about the intensive processes that led up to the fortunate situation of KJ being born in the PennMedicine system. They talk about balancing ethics and patient confidentiality with conveying the story of a true medical breakthrough, and talk about what is next for KJ, gene therapy at large, and their own research. This is story is about the success of years of research, work, and a testament to the entire team of medical professionals at CHOP and HUP seeing patients every day that making innovation possible.

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What happens when medicine, technology, and innovative minds come together to save an individuals life? Baby KJ born in 2024 in Philadelphia with an extremely rare and life-threatening genetic disorder called CPS1 deficiency, which affects the body's ability to remove ammonia. In a combination of fortune, advancing technology, and a world class medical team, Dr. Kiran Musunuru, MD, PhD, MPH, ML, MRA, (Barry J. Gertz Professor for Translational Research, Director of the Penn Cardiovascular Institute's Genetic and Epigenetic Origins of Disease Program, and Scientific Director of the Penn Center for Inherited Cardiovascular Disease, Hospital of the University of Pennsylvania), and Dr. Rebecca Ahrens-Nicklas, MD, PhD, (Assistant Professor of Pediatrics (Human Genetics), Director of Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, and Associate Chief for Research, Division of Human Genetics at CHOP and UPenn) were able to bring their years of research in personalized gene-editing therapy using CRISPR to a first in-human innovation. Alongside host Meryl Cohen, they discuss how CRISPR and gene therapy is sitting at the forefront of medical innovation. highlighting how the technology was used to help baby KJ. They also talk about the intensive processes that led up to the fortunate situation of KJ being born in the PennMedicine system. They talk about balancing ethics and patient confidentiality with conveying the story of a true medical breakthrough, and talk about what is next for KJ, gene therapy at large, and their own research. This is story is about the success of years of research, work, and a testament to the entire team of medical professionals at CHOP and HUP seeing patients every day that making innovation possible.

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