Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease for which there is a 10% rate of familial cases, with the rest being sporadic cases. Both genetic and environmental factors contribute to the etiology of ALS, and more than 120 genes have been reported to be tied to the disease, but few with strong association. Thus, identifying additional genes contributing to ALS will help shed light on the disease and its related therapies.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare multisystemic congenital myopathy that mainly affects males, and which is incompletely understood genetically speaking.
In an article published on Dec. 18, 2023, in Nature, researchers from the Centre for Genomic Regulation in Barcelona (Spain) and Wellcome Sanger Institute in Hinxton (U.K.) reported achieving a milestone regarding KRAS targeting in cancer. The team quantified the impact of >26,000 KRAS variants and how these mutations affected protein folding and its interaction with the six main effectors – RAF1, PIK3CG, RALGDS, SOS1, K27 and K55.
Launching a company based on knowledge that “the fundamental principle that most people hold to be true is off by a trillion” is a rare opportunity, said Jake Rubens, co-founder and president of Quotient Therapeutics Inc., a company that emerged from stealth this week, backed by two years of platform development and a $50 million investment from Flagship Pioneering.
Launching a company based on knowledge that “the fundamental principle that most people hold to be true is off by a trillion” is a rare opportunity, said Jake Rubens, co-founder and president of Quotient Therapeutics Inc., a company that emerged from stealth this week, backed by two years of platform development and a $50 million investment from Flagship Pioneering.
Malformations of cortical development (MCD) are a group of neurodevelopmental disorders characterized by malformation of cortical structures, which often lead to epilepsy, and include cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC).
Cell cycle-associated protein 1 (CAPRIN1) is an ubiquitously expressed protein, the levels of which are usually high in tissues with an elevated cell turnover; it is also abundant in the brain, where it regulates the transport and translation of synaptic protein mRNA.
Two studies published back to back in Nature have looked at the accumulation of mutations in blood-forming stem cells with age, gaining new insights into how the overall landscape of such cells changes across the lifespan.