In Nature this week, an international team led by researchers from Radboud University Medical Center report data suggesting that whole-genome sequencing can diagnose severe intellectual disability in newborns even when standard tests come back negative. The scientists performed genome-wide sequencing in 50 patients with severe intellectual disability and their unaffected parents. While previous genetic screens in these same patients failed to identify disease markers, the genome-wide analysis found 84 novel sequence variations and eight novel structural variations associated with severe intellectual disability. The results led to a diagnosis of 42 percent of patients studied. Clinical Sequencing News has more in this study here.
Meanwhile, in Nature Biotechnology, investigators from Institut Pasteur in Paris report on the use of the gene-editing technology CRISPR-Cas9 to alter the genome of the human malaria parasite Plasmodium falciparum, which has been difficult to manipulate with existing tools. They specifically disrupted chromosomal loci and generated marker-free, single-nucleotide substitutions with high efficiency. The team was also able to generate a strain of the protozoan resistant to a key malaria treatment.