37 research outputs found
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
The epilepsies affect around 65 million people worldwide and have a substantial missing
heritability component. We report a genome-wide mega-analysis involving 15,212 individuals
with epilepsy and 29,677 controls, which reveals 16 genome-wide significant loci, of which 11
are novel. Using various prioritization criteria, we pinpoint the 21 most likely epilepsy genes at
these loci, with the majority in genetic generalized epilepsies. These genes have diverse
biological functions, including coding for ion-channel subunits, transcription factors and a
vitamin-B6 metabolism enzyme. Converging evidence shows that the common variants
associated with epilepsy play a role in epigenetic regulation of gene expression in the brain.
The results show an enrichment for monogenic epilepsy genes as well as known targets of
antiepileptic drugs. Using SNP-based heritability analyses we disentangle both the unique and
overlapping genetic basis to seven different epilepsy subtypes. Together, these findings
provide leads for epilepsy therapies based on underlying pathophysiology
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Inclusion, Diversity, Access, and Equity in Infectious Diseases Fellowship Training: Tools for Program Directors.
The Infectious Diseases Society of America (IDSA) has set clear priorities in recent years to promote inclusion, diversity, access, and equity (IDA&E) in infectious disease (ID) clinical practice, medical education, and research. The IDSA IDA&E Task Force was launched in 2018 to ensure implementation of these principles. The IDSA Training Program Directors Committee met in 2021 and discussed IDA&E best practices as they pertain to the education of ID fellows. Committee members sought to develop specific goals and strategies related to recruitment, clinical training, didactics, and faculty development. This article represents a presentation of ideas brought forth at the meeting in those spheres and is meant to serve as a reference document for ID training program directors seeking guidance in this area