Helped treat an infant with a rare genetic disorder using customized gene-editing therapy
New York: A nine-month-old baby boy, who was born with a rare and life-threatening genetic disease was successfully treated with a customized gene-editing treatment. Indian-origin cardiologist Kiran Musunuru was in the team of doctors who became the first to treat the baby using the customized gene-editing therapy.
The nine-month-old baby, identified as KJ, was born with severe CPS1 deficiency -- a condition that affects only one in 1.3 million people -- was treated by Rebecca Ahrens-Nicklas, a senior physician, and doctor Kiran Musunuru.
The doctors at the Children’s Hospital of Philadelphia and the University of Pennsylvania began work immediately after the boy’s diagnosis, completing the complex design, manufacturing, and safety testing of the personalized therapy within six months.
The baby was just seven months old when he received the experimental treatment in February 2025.
Dr Kiran Musunuru used the CRISPR base editing technique, which meant he carefully changed one tiny part of the baby's DNA without cutting it, to fix the gene causing the disease.
Dr Musunuru is a heart disease expert and Associate Professor of Cardiovascular Medicine and Genetics in the Perelman School of Medicine at the University of Pennsylvania. He is a principal expert in genetic research and medicine.
He was born to Indian immigrant parents who settled in the US. His father, Dr Rao Musunuru, is also a renowned cardiologist who moved from Andhra Pradesh and built a distinguished medical career in the United States.
Dr Kiran graduated in Biochemical Sciences from Harvard College in 1997.
Later, he completed a PhD in Biomedical Sciences at Rockefeller University in 2003, followed by a medical degree from Weill Cornell Medical College in 2004.
In addition to his medical and scientific training, the 48-year-old doctor has pursued extensive interdisciplinary education to support his work at the intersection of science, public health, and policy.
He earned an MPH in Epidemiology from the Johns Hopkins Bloomberg School of Public Health in 2009, followed by an ML in Law from the University of Pennsylvania Law School in 2019.
Most recently, in 2024, he completed an MRA in Regulatory Affairs from the Perelman School of Medicine at the University of Pennsylvania.
His research focusses on the genetics of heart disease and seeks to identify genetic factors that protect against disease and use them to develop therapies to protect the entire population, according to Dr Kiran's website.
In his recent work, he has been using gene editing to create a one-shot "vaccination" against heart attacks.
