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.

Renal fibrosis is a common event in chronic kidney disease, where signaling driven by transforming growth factor-β1 (TGF-β1) plays a crucial role.

The EMA has granted European orphan drug designation to Purespring Therapeutics Ltd.’s PS-002 for IgA nephropathy (IgAN).

Diabetic nephropathy (DN), characterized by progressive damage to the glomeruli and tubulointerstitial compartments, is driven by metabolic reprogramming and mitochondrial dysfunction, including excessive mitochondrial fission mediated by dynamin-related protein 1 (Drp1).

A large-scale study has revealed the impact of germline variants on proteins in 10 cancer types. Scientists from the National Cancer Institute’s Clinical Proteomic Tumor Analysis Consortium (CPTAC) conducted a precision proteogenomic analysis in a pan-cancer study with data from 1,064 patients, identifying tumor heterogeneity and tumorigenesis associated with heritable genetic alterations. The results provide a broad view of cancer risk that could be useful for patient stratification and the design of prevention strategies.