Individuals with both sickle cell disease (SCD) and sickle cell trait are at higher risk than others of developing renal medullary cancer (RMC), the rarest and deadliest subtype of kidney cancer. Researchers at MD Anderson Cancer Center have identified the molecular mechanisms behind the increased risk, gaining new insights into antitumor immunity more generally and, potentially, new ways to treat RMC, and possibly other tumors as well.SCD “has been studied for 30 years, but 95% of the effort [has been] working on the red blood cells … how red blood cells contribute to hypoxia and then reduce oxygen supply,” Chunru Lin told BioWorld.
The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare disorder affecting brain development for which a mouse model has finally been developed. Other times, small and large models exist, but an effective treatment remains elusive, as is the case with Krabbe disease, a fatal disease in children that could be prevented with the advances in gene therapy.
Since the development of the base and prime editing technique by David Liu at the Broad Institute, their applications in biomedicine have continued to grow, reaching 17 clinical trials for base editing and one clinical assay for prime editing. The 28th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT) marked a historic milestone this year by presenting the first case of treatment with base editors of a baby with a deadly metabolic disease.
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.
Quralis Corp. has entered into a number of agreements with the aim of advancing the treatment of fragile X syndrome, a genetic condition caused by a mutation of a single gene – fragile X messenger ribonucleoprotein 1 (FMR1) – on the X chromosome.
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.
Metabolic disorders such as argininosuccinic and glutaric aciduria, methylmalonic acidemia, homocystinuria or primary hyperoxaluria require specific diets to prevent the accumulation of substances that the body can’t process. Current treatments mainly focus on managing symptoms and metabolite levels, and do not always prevent the progressive deterioration caused by mutations associated with the condition. However, emerging gene therapies hold promise for transforming these diseases by targeting their underlying causes, as presented in the oral abstract session, “Gene and cell therapy for metabolic diseases” of the ongoing 28th Annual Meeting of the American Society of Gene & Cell Therapy (ASGCT) meeting in New Orleans.
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