Using a customized gene editing therapy, researchers at the Children’s Hospital of Philadelphia have reported success in treating an infant with a severe metabolic disorder. Kiran Musunuru, Barry J. Gertz Professor for Translational Research in the University of Pennsylvania’s Perelman School of Medicine, presented the case at the American Society of Gene and Cell Therapy’s 2025 annual meeting. The case study was simultaneously published in The New England Journal of Medicine.

“I’m a pediatrician in metabolic diseases, and every day in my clinical work I’m confronted with our lack in effective therapies for our patients.” That was the sobering introduction by Sabine Fuchs in her talk at the 2025 Congress of the European Association for the Study of the Liver in Amsterdam this week. The nature of metabolic diseases makes it difficult to develop treatments for them. “There are over 1,500 diseases known by now, and it is just very difficult to develop therapies for each and every individual rare disease.”

Researchers from Pretzel Therapeutics Inc. and the University of Gothenburg have published new insights on how mutations in the POLG gene affect its functionality and are tied to PolG diseases. They have also presented a compound for its potential treatment, PZL-A. They published their results in Nature on April 9, 2025.

Too much of a good thing, it turns out, is a concept that applies to oxygen. And researchers at the University of California at San Francisco are working on a small molecule, Hypoxystat, that can lower tissue oxygen levels and prevent damage when oxygen levels are too high. When administered to mice with the rare mitochondrial disorder Leigh syndrome, the molecule more than tripled their average lifespan.

Researchers have altered the genetic code in a strain of Escherichia coli, reducing the number of stop codons from three to one and assigning the freed-up stop codons to nonstandard amino acids. They reported on the recoded bacterium, which they named OCHRE, in Nature on Feb. 5, 2025.

Around the end of every year, the media reports on pregnancy and women who give birth on the last and first days of the new year. They tell their stories, the names of their babies and the cities where they were born. While 2024 was coming to an end, gynecologists and other researchers finalized their publications to improve the health of women and their babies. The formation of the placenta or the study of preeclampsia are some of the first and last stories that greet and say goodbye to 2024. Those of 2025 will be born soon.

At the Breakthroughs in Muscular Dystrophy special meeting held in Chicago Nov. 19-20, 2024, and organized by the American Society of Gene & Cell Therapy (ASGCT), multiple interventions at the RNA level were among the approaches that were presented to fight muscular dystrophies.

Since the isolation of the gene that causes Duchenne muscular dystrophy (DMD), scientists have progressed in understanding the mechanisms that lead to muscular diseases that can be evident from the early stages of childhood. This has led to the development of diagnostics and therapeutics, some approved by the FDA.

An international consortium of thousands of scientists is creating the Human Cell Atlas, a three-dimensional map of all the cells in the body. The goal is to understand all the cells that make up human tissues, organs and systems, which will enable multiple medical applications. This collection of cell maps is openly available for navigation at single-cell resolution, identified through omics analyses that reveal the tridimensional distribution of each cell.

Cancer therapies can eliminate specific tumors based on their genetic content. However, some cancer cells survive. How do they do it? Part of the answer lies in extrachromosomal DNA (ecDNA), an ace up the tumors’ sleeve to adapt and evade attack. Three simultaneous studies in the journal Nature lay all the cards on the table, revealing ecDNAs’ content, their origin, their inheritance, their influence in cancer, and a way to combat them.