Abstracts

The document contains abstracts from various genetic studies, with one study assessing ethical decision-making competences regarding genome editing in 50 medical students and 50 adolescents, revealing concerns about risks and limits of the technology. Another study increased the diagnostic yield for mitochondrial DNA mutations by nearly 2% using exome sequencing in 2,111 cases. A separate study solved 39% of inherited retinal disease cases by identifying pathogenic variants, while another confirmed the role of biallelic mutations in the PIGP gene in early-infantile epileptic encephalopathy. Additionally, a novel missense variant in the LOX gene was linked to multiple aneurysms, and genotype-phenotype correlations were explored in MYH2-related congenital myopathy. A patient with Weill-Marchesani 4 syndrome was diagnosed using whole exome sequencing. Lastly, a study using PrediXcan algorithms on data from 16,473 late-stage AMD cases and 19,033 controls identified 12 genes with imputed gene expression correlated to AMD, including a new susceptibility locus, Clorf21. The number of participants in each study was not provided, except for the genome editing competence and mitochondrial DNA mutation studies.