BioWorld looks at translational medicine, including: Insights, strategies for stabilizing dystrophin.

Scientists working at the University of North Carolina, Chapel Hill reported in the Oct. 21, 2020, issue of Nature on the successful development of a one-time specific sequence-directed gene therapy approach using the combination of AAV with CRISPR technology that successfully prevented the presentation of Angelman syndrome throughout the lifetime of a mouse model.

Anthony Wynshaw-Boris, professor and chair of the department of genetics and genome sciences at Case Western Reserve University School of Medicine, set a positive tone in his opening talk at the 2020 annual meeting of the American Society of Human Genetics (ASHG). "This is guaranteed to be the best-ever virtual ASHG annual meeting," he told the audience. The opening plenary abstract session, for one, did not disappoint. It began with the definition of a new disease, identified through a new approach, and possibly leading to a new way to think about rheumatic diseases.

CYBERSPACE – “We are not very good at predicting drug response in the clinic,” Ayesha Muhammad told the audience at the 2020 annual meeting of the American Society of Human Genetics (ASHG), “though it is not for lack of trying.” Nevertheless, adverse drug reactions are among the top 10 causes of in-hospital mortality.

BioWorld looks at translational medicine.

Australian geneticists have developed a new tool, the Single Nucleotide Association Test for CNVs, with which to analyze copy number variations and their associations in genetic neurodevelopmental disorders.

The opening plenary abstract session at the 2020 annual meeting of the American Society of Human Genetics (ASHG) began with the definition of a new disease, identified through a new approach, and possibly leading to a new way to think about rheumatic diseases.

BioWorld looks at translational medicine, including: Macrophages metabolically support muscle; Cutting off AML’s metabolic escape route.