GREGoR: Accelerating Genomics for Rare Diseases.

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis.

regionalpcs improve discovery of DNA methylation associations with complex traits.

We have developed the regionalpcs method, an approach for summarizing gene-level methylation. regionalpcs addresses the challenge of deciphering complex epigenetic mechanisms in diseases like Alzheimer's disease. In contrast to averaging, regionalpcs uses principal components analysis to capture complex methylation patterns across gene regions.

Don't Sleep on Sleep: A Case Report from a Division I Heptathlete.

A female NCAA Division I track athlete experienced non-localized shin pain midway through her first season, which was diagnosed as medial tibial stress syndrome. Treatments included strengthening and range of motion exercises, reduced training volume, and pain control modalities, but symptoms worsened. It was revealed she had been suffering from severe sleep deprivation (<3 hours/night) contributing to bilateral tibial and fibular stress reactions.

Family planning and contraception in people with multiple sclerosis: perspectives for obstetricians, gynaecologists, and other health care professionals involved in reproductive planning.

Purpose: Multiple sclerosis (MS) is often diagnosed in people of reproductive age. However, family planning counselling is not always integrated within MS care. Decisions on family planning can be further complicated by potential side effects associated with several disease-modifying therapies.