Browsing: Rare

Credit: Kateryna Kon/Science Photo Library/Getty Images As tissues age, they quietly accumulate many mutations that can drive cancer. In the…

Credit: TanyaJoy / iStock / Getty Images Plus Missense variants remain a challenge in genetic interpretation due to their subtle and context-dependent…

Credit: Andriy Onufriyenko / Getty Images Fibrolamellar carcinoma (FLC) is one of the rarest and most challenging liver cancers, affecting…

Baxter, S. M. et al. Centers for Mendelian Genomics: a decade of facilitating gene discovery. Genet. Med. 24, 784–797 (2022).CAS …

Credit: Nanoclustering / Science Photo Library / Getty Images The process of variable translation of mRNAs through alternative start codon…

Credit: hapabapa / Editorial RF / iStock Editorial / Getty Images Plus Thymidine kinase 2 deficiency (TK2d) is an ultra-rare…

Credit: Blablo101 / iStock / Getty Images Plus It’s been less than six months since the news of Baby KJ…

Growing product pipelines and government support for rare disease treatments is expected to drive the growth of the global market…

Metal-organic frameworks and peripheral immune tolerance were the big winners of the Nobel prizes in chemistry, and in physiology or…

Credit: Dragos Condrea / iStock / Getty Images Plus When James (“Jim”) Wilson, MD, PhD, arrived at Penn in 1992,…