Cell-specific imputation of drug connectivity mapping with incomplete data.

Drug repositioning allows expedited discovery of new applications for existing compounds, but re-screening vast compound libraries is often prohibitively expensive. "Connectivity mapping" is a process that links drugs to diseases by identifying compounds whose impact on expression in a collection of cells reverses the disease's impact on expression in disease-relevant tissues. The LINCS project has expanded the universe of compounds and cells for which data are available, but even with this effort, many clinically useful combinations are missing.

Simple Linear Cancer Risk Prediction Models With Novel Features Outperform Complex Approaches.

Purpose: The ability to accurately predict an individual's risk for cancer is critical to the implementation of precision prevention measures. Current cancer risk predictions are frequently made with simple models that use a few proven risk factors, such as the Gail model for breast cancer, which are easy to interpret, but may theoretically be less accurate than advanced machine learning (ML) models.

Methods: With the UK Biobank, a large prospective study, we developed models that predicted 13 cancer diagnoses within a 10-year time span.

Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis.

Trifunctional protein deficiency/Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD/TFP) deficiency is a disorder of fatty acid oxidation and ketogenesis. Severe neonatal lactic acidosis, cardiomyopathy, and hepatic dysfunction are caused by the accumulation of toxic long-chain acylcarnitines. The feasibility of umbilical cord blood use in screening for acylcarnitine analysis and free carnitine has been hypothesized but not reported in LCHAD/TFP neonates.

Climbing the Ladder: Experience with Developing a Large Group Genetic Counselor Career Ladder at Children's National Health System.

Children's National Health System (CNHS) is a not-for-profit pediatric hospital that employs around twenty genetic counselors in a range of specialties, including clinical pediatric, neurology, fetal medicine, research, and laboratory. CNHS lacked a structured system of advancement for their genetic counselors; therefore, a formal career ladder was proposed by the genetic counselors based on years of experience, responsibility, and job performance. This career ladder utilized monetary, academic, and seniority incentives to encourage advancement and continue employment at CNHS.