Exploring Ch’timi’s History, Structure, and Decline: A Field Study Chez les Ch’tis

This research investigated the history of the Ch’timi language and some of the differences between it and Standard French, as well as its decline and what, if anything, is being done to stop it. Ch’timi is a part of the Picard language group, spoken primarily in the north of France, and parts of Belgium. It is an endangered language, and few people still speak it to this day. This field research aims to determine how speakers of the language see it, whether they think it should be preserved, and whether anything is being done to keep it active. To answer these questions, field interviews were conducted with anonymous speakers of the language, and some of their demographic information collected. Further, background literature research was done to determine aspects of the language’s culture and structure. The results of the interview research and the background research, as well as investigations of any organizations dedicated to preserving these languages, shows that very little is actively being done to preserve them and that the people themselves do not see its survival as a priority due to internal stigma, economic reasons, and the low proportion of people who still speak it

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies.status: publishe

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aminoacyl tRNA synthetases (ARSs) link specific amino acids with their cognate transfer RNAs in a critical early step of protein translation. Mutations in ARSs have emerged as a cause of recessive, often complex neurological disease traits. Here we report an allelic series consisting of seven novel and two previously reported biallelic variants in valyl-tRNA synthetase (VARS) in ten patients with a developmental encephalopathy with microcephaly, often associated with early-onset epilepsy. In silico, in vitro, and yeast complementation assays demonstrate that the underlying pathomechanism of these mutations is most likely a loss of protein function. Zebrafish modeling accurately recapitulated some of the key neurological disease traits. These results provide both genetic and biological insights into neurodevelopmental disease and pave the way for further in-depth research on ARS related recessive disorders and precision therapies