SELFIE: ITER superconducting joint test facility

In the frame of a contract with ITER Organization (IO) on magnets assembly support, CEA designed and built a superconducting joint test facility called SELFIE (ITER SELf-FIEld joint test facility). This facility is installed at CEA Cadarache and started to operate in 2022. This project was initiated by IO for quality control of critical assembly activities. Indeed, the magnet superconducting joints assembly is a special process, for which the performance cannot be verified until the full Tokamak is at cryogenic temperature and obviously repair cannot be envisaged once the machine is assembled. Therefore, the quality control of these joints assembly relies on procedures and qualification of the workers in charge of their implementation. As the joints assemblies will span over three years of the ITER construction, the qualified workers will have to assemble periodically some Production Proof Samples (PPS) joints to train and keep their certification valid. The purpose of SELFIE is to test these PPS in a timely manner. The tests scope is the measurement of the PPS resistance (few nOhms). For that purpose, PPS integrated in ITER conductors length (∼200 kg weight and 3600 mm length) are tested in a liquid helium bath (4.2 K), at nominal current (up to 70 kA), in self-field. The current is provided by a superconducting transformer integrated in the same cryostat as the sample. CEA finalized the preliminary design in 2019, complying with the requirement to achieve a full test sequence within one week (controlled cool down, test and warm-up), with an optimised operation cost. The detailed design phase was started in April 2020 followed by the manufacturing phase up to mid 2021. SELFIE integration and installation were achieved in December 2021 and the cold commissioning done in January 2022. This paper presents the SELFIE test facility and the first results

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10-15), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10-16), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10-14), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10-11), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10-12). We also confirmed significant association at three previously described loci (P < 5 × 10-8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10(-12)). We also confirmed significant association at three previously described loci (P < 5 × 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG