The Promise and Pitfalls of Facebook Advertising: a Genetic Counselor’s Perspective

Facebook advertising is a powerful tool for increasing the outreach and recruitment of research participants. We describe our experience as genetic counselors within the context of an internet-based research study, recruiting subjects for a Parkinson disease (PD) biomarker study

Defining the causes of sporadic Parkinson's disease in the global Parkinson's genetics program (GP2)

The Global Parkinson’s Genetics Program (GP2) will genotype over 150,000 participants from around the world, and integrate genetic and clinical data for use in large-scale analyses to dramatically expand our understanding of the genetic architecture of PD. This report details the workflow for cohort integration into the complex arm of GP2, and together with our outline of the monogenic hub in a companion paper, provides a generalizable blueprint for establishing large scale collaborative research consortia

Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Reduced Theta Sampling in Infants at Risk for Dyslexia across the Sensitive Period of Native Phoneme Learning

Research on children and adults with developmental dyslexia—a specific difficulty in learning to read and spell—suggests that phonological deficits in dyslexia are linked to basic auditory deficits in temporal sampling. However, it remains undetermined whether such deficits are already present in infancy, especially during the sensitive period when the auditory system specializes in native phoneme perception. Because dyslexia is strongly hereditary, it is possible to examine infants for early predictors of the condition before detectable symptoms emerge. This study examines low-level auditory temporal sampling in infants at risk for dyslexia across the sensitive period of native phoneme learning. Using magnetoencephalography (MEG), we found deficient auditory sampling at theta in at-risk infants at both 6 and 12 months, indicating atypical auditory sampling at the syllabic rate in those infants across the sensitive period for native-language phoneme learning. This interpretation is supported by our additional finding that auditory sampling at theta predicted later vocabulary comprehension, nonlinguistic communication and the ability to combine words. Our results indicate a possible early marker of risk for dyslexia

Community-Academic Partnerships to Understand Barriers to and Promoters of Participation of Underrepresented Populations in Parkinson's Disease Research

<p>Groups underrepresented in PD research are at risk for worsened clinical outcomes. Factors influencing the enrollment of minoritized populations into research studies are not well understood. Objectives: To understand key barriers to and facilitators of clinical trial enrollment for underrepresented populations. To describe sample community outreach events to engage target audience. To outline actionable steps to improve diversity, equity, and inclusivity (DEI) in PD research.</p&gt

User Experience (UX): Successful Remote Engagement Strategy for Individuals at Risk for Parkinson's Disease in PPMI

Digital instruments continue to gain footing in clinical trials as enhancements to in-clinic engagement. However, few studies focus on how remote engagement can be associated with high rates of attrition due to various aspects of the UX. The study design for the Parkinson’s Progression Markers Initiative (PPMI) Smell Test (ST) Direct screening structure, initiated in mid-2022, incorporates practices within the web-based portal that help to sustain progressive UX and facilitate study compliance. Olfactory dysfunction is a key risk factor for the typical symptoms of PD. Strategic use of technology enables the study to guide participants through a multi-step digital process

Reading instruction causes changes in category-selective visual cortex

Education sculpts specialized neural circuits for skills like reading that are critical to success in modern society but were not anticipated by the selective pressures of evolution. Does the emergence of brain regions that selectively process novel visual stimuli like words occur at the expense of cortical representations of other stimuli like faces and objects? “Neuronal Recycling” predicts that learning to read should enhance the response to words in ventral occipitotemporal cortex (VOTC) and decrease the response to other visual categories such as faces and objects. To test this hypothesis, and more broadly to understand the changes that are induced by the early stages of literacy instruction, we conducted a randomized controlled trial with pre-school children (five years of age). Children were randomly assigned to intervention programs focused on either reading skills or oral language skills and magnetoencephalography (MEG) data collected before and after the intervention was used to measure visual responses to images of text, faces, and objects. We found that being taught reading versus oral language skills induced different patterns of change in category-selective regions of visual cortex, but that there was not a clear tradeoff between the response to words versus other categories. Within a predefined region of VOTC corresponding to the visual word form area (VWFA) we found that the relative amplitude of responses to text, faces, and objects changed, but increases in the response to words were not linked to decreases in the response to faces or objects. How these changes play out over a longer timescale is still unknown but, based on these data, we can surmise that high-level visual cortex undergoes rapid changes as children enter school and begin establishing new skills like literacy

Nibi Eteg: Where the Water Is

Over this past year, ETL produced a documentary on the spiritual and cultural significance individuals have with water. The two stories the team chose to parallel were from the perspectives of Hindu individuals in India and the band of Chippewa Native Americans in Red Lake, Minnesota. Both of these stories explored the connection people share with water, either by religious or cultural practice. Throughout the film, we identified the presence of a gap within American ties to water. The gap, we learned, is not a failure in forming a connection, nor understanding the significance of water, but that individuals struggle to perceive the connection they have with water. In failing to form connection, we succeed at forming apathy towards the water we survive by. Following our documentary premiere, ETL worked in partnership with 13 other campus clubs and organizations ranging from Women’s Leadership and Campus ministry to Chemistry Club and College Democrats and Republicans, to put together Water Week, a week-long journey allowing students to see the importance of and connection we share with water as we walk along our everyday lives. This initiative is one that will continue every year with these clubs, and we hope will expand to even more as the years continue