Advancing diagnosis and management of liver disease in adults through exome sequencing.

Background: Whole-exome sequencing (WES) is an effective tool for diagnosis in patients who remain undiagnosed despite a comprehensive clinical work-up. While WES is being used increasingly in pediatrics and oncology, it remains underutilized in non-oncological adult medicine, including in patients with liver disease, in part based on the faulty premise that adults are unlikely to harbor rare genetic variants with large effect size. Here, we aim to assess the burden of rare genetic variants underlying liver disease in adults at two major tertiary referral academic medical centers.

Hepatology Genome Rounds: An interdisciplinary approach to integrate genomic data into clinical practice.

In the last decade, the utility of whole-exome sequencing in uncovering genetic aetiologies of a variety of liver diseases has been demonstrated. These new diagnoses have guided the management, treatment, and prognostication of previously undiagnosed patients, largely thanks to improved insight into the underlying pathogenesis of their conditions. Despite its clear benefits, the uptake of genetic testing by hepatologists has been limited, in part due to limited prior genetic training and/or opportunities for continuing education.

The evolution of synaptic and cognitive capacity: Insights from the nervous system transcriptome of .

The gastropod mollusk is an important model for cellular and molecular neurobiological studies, particularly for investigations of molecular mechanisms of learning and memory. We developed an optimized assembly pipeline to generate an improved nervous system transcriptome. This improved transcriptome enabled us to explore the evolution of cognitive capacity at the molecular level.

Tips for Building a Community for Incoming Medical Students Virtually in the COVID-19 Era.

Unlabelled: A sense of community benefits medical trainees by preserving mental well-being, nurturing collegiality and mentorship, and grounding ties with partnering organizations and services. Within medical school, building these support relationships often begins shortly after matriculation. In the current pandemic and the accompanying shift to a virtual class format, we believe that a dedicated effort to foster this sense of community is crucial for students who otherwise may feel untethered to their new learning environment.

Emerging Role of Genomic Analysis in Clinical Evaluation of Lean Individuals With NAFLD.

Whereas the rising prevalence of nonalcoholic fatty liver disease (NAFLD) is closely related with the global obesity epidemic, up to 10–20% of individuals with NAFLD are lean as defined by a body mass index of < 25 kg/m, or < 23 kg/m in Asians. This entity designated as “lean NAFLD” is estimated to affect 8 to 10 million individuals in the United States alone. Here, we review the emerging data on the epidemiology, natural history and prognosis of lean NAFLD and put forward a diagnostic approach that combines detailed clinical phenotyping with genomic analysis.