JMIR Public Health Surveill
February 2024
The pandemic provided a stark reminder of the inequities faced by populations historically marginalized by the health care system and accelerated the adoption of digital health technologies to drive innovation. Digital health technologies' purported promises to reduce inefficiencies and costs, improve access and health outcomes, and empower patients add a new level of urgency to health equity. As conventional medicine shifts toward digital medicine, we have the opportunity to intentionally develop and deploy digital health technologies with an inclusion focus.
View Article and Find Full Text PDFIntroduction: Quantitative gait analysis (QGA) has the potential to support clinician decision-making. However, it is not yet widely accepted in practice. Evidence for clinical efficacy (i.
View Article and Find Full Text PDFIntroduction: Cilia biogenesis relies on intraflagellar transport (IFT), a conserved transport mechanism which functions bi-directionally to bring protein complexes to the growing ciliary tip and recycle signaling and transport proteins between the cilium and cell body. In , anterograde IFT is critical for assembly of sensory cilia in the neurons of both chordotonal (ch) organs, which have relatively long ciliary axonemes, and external sensory (es) organs, which have short axonemal segments with microtubules in distal sensory segments forming non-axonemal bundles. We previously isolated the () mutant in a mutagenesis screen for auditory mutants.
View Article and Find Full Text PDFBackground: The use of digital health measurement tools has grown substantially in recent years. However, there are concerns that the promised benefits from these products will not be shared equitably. Underserved populations, such as those with lower education and income, racial and ethnic minorities, and those with disabilities, may find such tools poorly suited for their needs.
View Article and Find Full Text PDFBackground: Quantitative gait analysis can support clinical decision-making. These analyses can be performed using wearable sensors, nonwearable sensors, or a combination of both. However, to date, they have not been widely adopted in clinical practice.
View Article and Find Full Text PDFInt J Environ Res Public Health
January 2023
Virtual events have become more popular recently, and while these events have the potential to be inclusive to a broader range of attendees, there is limited information available on how to plan and deliver a virtual, accessible, and bilingual event. The objective of this paper is to share how our team planned and delivered a virtual conference that was fully bilingual and accessible to individuals with disabilities by incorporating closed captions, sign language interpretation, language interpretation (audio), regularly scheduled breaks, and a multi-sensory experience. We describe our approaches to planning the conference, such as including individuals with disabilities in decision-making, selecting virtual conference platforms, captioners, and interpreters, and how we incorporated a multi-sensory experience.
View Article and Find Full Text PDFInt J Environ Res Public Health
August 2022
The COVID-19 pandemic negatively affected many individuals. In particular, it is likely that individuals with disabilities and unpaid caregivers were disproportionately affected, however, its exact impact is largely unknown. The primary objective of this work was to identify challenges faced by individuals with disabilities and unpaid caregivers.
View Article and Find Full Text PDFAs the use of connected devices rises, an understanding of how digital health technologies can be used for equitable healthcare across diverse communities is needed. We surveyed 1007 adult patients at six Federally Qualified Health Centers regarding wearable fitness trackers. Findings indicate the majority interest in having fitness trackers.
View Article and Find Full Text PDFBackground: Whether due to aging, disability, injury, or other circumstances, an increasing number of Canadians experience functional limitations that reduce their ability to participate in activities of daily life. While the built environment has become increasingly accessible, existing Canadian evacuation guidelines lack comprehensive strategies for evacuating individuals with functional limitations from buildings during emergencies. To inform guideline revisions, a map of existing solutions for evacuating such individuals is required.
View Article and Find Full Text PDFIntroduction: Increased genomics knowledge and access are advancing precision medicine and care delivery. With the translation of precision medicine across health care, genetics and genomics will play a greater role in primary care services. Health disparities and inadequate representation of racial and ethnically diverse groups threaten equitable access for those historically underserved.
View Article and Find Full Text PDFGenome-wide association studies have identified over 200 genomic loci associated with inflammatory bowel disease (IBD). High-effect risk alleles define key roles for genes involved in bacterial response and innate defense. More high-throughput systems are required to rapidly evaluate therapeutic agents.
View Article and Find Full Text PDFBackground & Aims: Genome-wide association studies have identified 200 inflammatory bowel disease (IBD) loci, but the genetic architecture of Crohn's disease (CD) and ulcerative colitis remain incompletely defined. Here, we aimed to identify novel associations between IBD and functional genetic variants using the Illumina ExomeChip (San Diego, CA).
Methods: Genotyping was performed in 10,523 IBD cases and 5726 non-IBD controls.
Background & Aims: Crohn's disease (CD) has the highest prevalence in Ashkenazi Jewish populations. We sought to identify rare, CD-associated frameshift variants of high functional and statistical effects.
Methods: We performed exome sequencing and array-based genotype analyses of 1477 Ashkenazi Jewish individuals with CD and 2614 Ashkenazi Jewish individuals without CD (controls).
Proc Natl Acad Sci U S A
June 2016
Drosophila larval locomotion, which entails rhythmic body contractions, is controlled by sensory feedback from proprioceptors. The molecular mechanisms mediating this feedback are little understood. By using genetic knock-in and immunostaining, we found that the Drosophila melanogaster transmembrane channel-like (tmc) gene is expressed in the larval class I and class II dendritic arborization (da) neurons and bipolar dendrite (bd) neurons, both of which are known to provide sensory feedback for larval locomotion.
View Article and Find Full Text PDFGenome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) and ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These discoveries have already had a tremendous impact on our understanding of the genetic architecture of these diseases and have directed functional studies that have revealed some of the biological functions that are important to IBD (e.g.
View Article and Find Full Text PDFBackground: Neutralizing autoantibodies (Abs) against granulocyte-macrophage colony-stimulating factor (GM-CSF Ab) have been associated with stricturing ileal Crohn's disease (CD) in a largely pediatric patient cohort (total 394, adult CD 57). The aim of this study was to examine this association in 2 independent predominantly adult inflammatory bowel disease patient cohorts.
Methods: Serum samples from 742 subjects from the NIDDK IBD Genetics Consortium and 736 subjects from Australia were analyzed for GM-CSF Ab and genetic markers.
Full realization of the value of the loxP-flanked alleles generated by the International Knockout Mouse Consortium will require a large set of well-characterized cre-driver lines. However, many cre driver lines display excision activity beyond the intended tissue or cell type, and these data are frequently unavailable to the potential user. Here we describe a high-throughput pipeline to extend characterization of cre driver lines to document excision activity in a wide range of tissues at multiple time points and disseminate these data to the scientific community.
View Article and Find Full Text PDFCrohn's disease and ulcerative colitis, the two common forms of inflammatory bowel disease (IBD), affect over 2.5 million people of European ancestry, with rising prevalence in other populations. Genome-wide association studies and subsequent meta-analyses of these two diseases as separate phenotypes have implicated previously unsuspected mechanisms, such as autophagy, in their pathogenesis and showed that some IBD loci are shared with other inflammatory diseases.
View Article and Find Full Text PDFMore than 1,000 susceptibility loci have been identified through genome-wide association studies (GWAS) of common variants; however, the specific genes and full allelic spectrum of causal variants underlying these findings have not yet been defined. Here we used pooled next-generation sequencing to study 56 genes from regions associated with Crohn's disease in 350 cases and 350 controls. Through follow-up genotyping of 70 rare and low-frequency protein-altering variants in nine independent case-control series (16,054 Crohn's disease cases, 12,153 ulcerative colitis cases and 17,575 healthy controls), we identified four additional independent risk factors in NOD2, two additional protective variants in IL23R, a highly significant association with a protective splice variant in CARD9 (P < 1 × 10(-16), odds ratio ≈ 0.
View Article and Find Full Text PDFGenome-wide association studies and candidate gene studies in ulcerative colitis have identified 18 susceptibility loci. We conducted a meta-analysis of six ulcerative colitis genome-wide association study datasets, comprising 6,687 cases and 19,718 controls, and followed up the top association signals in 9,628 cases and 12,917 controls. We identified 29 additional risk loci (P < 5 × 10(-8)), increasing the number of ulcerative colitis-associated loci to 47.
View Article and Find Full Text PDFWe undertook a meta-analysis of six Crohn's disease genome-wide association studies (GWAS) comprising 6,333 affected individuals (cases) and 15,056 controls and followed up the top association signals in 15,694 cases, 14,026 controls and 414 parent-offspring trios. We identified 30 new susceptibility loci meeting genome-wide significance (P < 5 × 10⁻⁸). A series of in silico analyses highlighted particular genes within these loci and, together with manual curation, implicated functionally interesting candidate genes including SMAD3, ERAP2, IL10, IL2RA, TYK2, FUT2, DNMT3A, DENND1B, BACH2 and TAGAP.
View Article and Find Full Text PDFBackground: Preterm birth is an enormous public health problem, affecting over 12% of live births and costing over $26 billion in the United States alone. The causes are complex, but twin studies support the role of genetics in determining gestation length. Despite widespread use of the mouse in studies of the genetics of preterm birth, there have been few studies that actually address the precise natural gestation length of the mouse, and to what degree the timing of labor and birth is genetically determined.
View Article and Find Full Text PDFUlcerative colitis is a chronic, relapsing inflammatory condition of the gastrointestinal tract with a complex genetic and environmental etiology. In an effort to identify genetic variation underlying ulcerative colitis risk, we present two distinct genome-wide association studies of ulcerative colitis and their joint analysis with a previously published scan, comprising, in aggregate, 2,693 individuals with ulcerative colitis and 6,791 control subjects. Fifty-nine SNPs from 14 independent loci attained an association significance of P < 10(-5).
View Article and Find Full Text PDFObjective: The evolutionarily conserved Kit receptor is vital for function of hematopoietic stem cells (HSC). Kit(W-41) (W-41) and Kit(W-42) (W-42) are single residue changes in the KIT intracellular phosphotransferase domain, while Kit(W-v) (W-v) is a single residue change in the ATP binding domain. This study tests how each mutation affects HSC function.
View Article and Find Full Text PDF