Publications by authors named "E P Radford"

Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk is distributed among patients with these conditions and their parents nor its interplay with rare variants. It is also unclear whether polygenic background affects risk directly through alleles transmitted from parents to children, or whether indirect genetic effects mediated through the family environment also play a role.

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Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause a frequent neurodevelopmental disorder. This work will have a substantial impact on the rare disease community, leading to thousands of diagnoses worldwide. These studies also highlight the untapped diagnostic potential of noncoding regions.

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Myxobacteria (phylum Myxococcota) are abundant and virtually ubiquitous microbial predators. Facultatively multicellular organisms, they are able to form multicellular fruiting bodies and swarm across surfaces, cooperatively hunting for prey. Myxobacterial communities are able to kill a wide range of prey microbes, assimilating their biomass to fuel population growth.

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Importance: Handheld phone use while driving is a major factor in vehicle crashes. Scalable interventions are needed to encourage drivers not to use their phones.

Objective: To test whether interventions involving social comparison feedback and/or financial incentives can reduce drivers' handheld phone use.

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Article Synopsis
  • Researchers conducted comprehensive genome editing on the BAP1 gene, which is related to tumors and neurodevelopmental issues, to study rare genetic variants.
  • They identified over 18,000 unique variants, with more than 6,000 showing abnormal functions, and linked their findings to health data from the UK Biobank and various cancer collections.
  • The study revealed that certain harmful BAP1 variants are connected to higher levels of the IGF-1 protein, highlighting a potential target for therapy, and they developed a highly accurate tool for interpreting genetic variants.
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