Creating and publishing a scientific masterpiece

JCI Editor at Large Ushma S. Neill provides updated advice on generating a scientific manuscript with maximum impact.

Breast milk-derived alkylglycerols support beige adipose tissue

In this episode, Tamás Röszer and colleagues demonstrate that breast-milk-derived alkylglycerols preserve beige adipocytes to protect against obesity.

JCI's Conversations with Giants in Medicine: George Church

JCI Editor at Large Ushma S. Neill interviews the geneticist, innovator, and entrepreneur George Church, of Harvard and MIT. Dr. Church developed the methods for the first genome sequencing, and his subsequent work has brought down the price of sequencing over 10-million-fold. His was one of the two research groups that first got CRISPR/Cas9 to work for precise gene editing in human cells by a homologous recombination, and he has been behind countless other scientific innovations and disruptions, specifically in the world of precision genome sequencing.

Secondary insult reveals etiology of GATA2 enhancer mutation-associated blood disorder

The transcription factor GATA-2 is critical regulator of hematopoietic stem and progenitor cell (HSPC) development and function, and mutations in the enhancer region of GATA2 are linked to blood disorders. In this episode, Emery Bresnick and colleagues develop and characterize a mouse model that harbors a human disease-associated GATA2 enhancer mutation. In this model, hematopoietic development and function were normal unless the animals were exposed to a secondary stress that necessitated blood cell regeneration. The results of this study provide important insight into GATA-2-dependent pathogenesis.

Naturally occurring cone disorder in nonhuman primates

Achromatopsia is form of congenital retinal degeneration characterized by the loss of cone photoreceptor function, resulting in dramatic loss of visual acuity. Mouse models of cone disorders are available; however, clinical translation of these models is limited, as cone density in the murine retina is much less than that of humans. In this episode, Sara Thomasy and Ala Moshiri discuss the identification and characterization of a naturally occurring mutation in nonhuman primates that results in features that mirror human achromatopsia. This nonhuman primate model has high potential for therapeutic testing and optimization of gene editing and of cone cell replacement strategies.