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.
Each year, acute kidney injury affects more than 13 million people and leads to nearly 2 million deaths. It can occur, for example, in cancer patients taking nephrotoxic cisplatin chemotherapy and in individuals who suffer sepsis or ischemic stroke.
Scientists at Jiangsu Hengrui Medicine Co. Ltd. and Shanghai Hengrui Pharmaceutical Co. Ltd. have identified relaxin receptor 1 (RXFP1; LGR7) agonists reported to be useful for the treatment of heart failure, chronic kidney disease, acute kidney injury, fibrosis and inflammatory disorders.
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.
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).
Crinetics Pharmaceuticals Inc. has disclosed somatostatin receptor type 3 (SSTR3) agonists reported to be useful for the treatment of autosomal dominant polycystic kidney disease.
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.
Eli Lilly & Co. has disclosed new calcium/calmodulin-dependent 3’,5’-cyclic nucleotide phosphodiesterase 1 (PDE1) inhibitors reported to be useful for the treatment of chronic kidney disease, Alzheimer’s disease, Parkinson’s disease, schizophrenia, heart failure, pulmonary hypertension, myocardial infarction and ischemic stroke, among others.
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