Opportunities, barriers, and recommendations in down syndrome research.

BACKGROUND: Recent advances in medical care have increased life expectancy and improved the quality of life for people with Down syndrome (DS). These advances are the result of both pre-clinical and clinical research but much about DS is still poorly understood. In 2020, the NIH announced their plan to update their DS research plan and requested input from the scientific and advocacy community. OBJECTIVE: The National Down Syndrome Society (NDSS) and the LuMind IDSC Foundation worked together with scientific and medical experts to develop recommendations for the NIH research plan. METHODS: NDSS and LuMind IDSC assembled over 50 experts across multiple disciplines and organized them in eleven working groups focused on specific issues for people with DS. RESULTS: This review article summarizes the research gaps and recommendations that have the potential to improve the health and quality of life for people with DS within the next decade. CONCLUSIONS: This review highlights many of the scientific gaps that exist in DS research. Based on these gaps, a multidisciplinary group of DS experts has made recommendations to advance DS research. This paper may also aid policymakers and the DS community to build a comprehensive national DS research strategy.

Reopening During the Unprecedented: The Association of Biomolecular Resource Facilities Community Coronavirus Disease 2019 Pandemic Response. Part 2: Efforts to Effectively Ramp Up Core Facility Activities.

Shared research resources, also known as core facilities, serve a crucial role in supporting research, training, and other needs for their respective institutions. In response to the coronavirus disease (COVID-19) pandemic, all but the most critical laboratory research was halted in many institutions around the world. The Association of Biomolecular Resource Facilities conducted 2 surveys to understand and document institutional responses to the COVID-19 pandemic from core facility perspectives. The first survey was focused on initial pandemic response and efforts to sustainably ramp down core facility operations. The second survey, which is the subject of this study, focused on understanding the approaches taken to ramp up core facility operations after these ramp-down procedures. The survey results revealed that many cores remained active during the ramp-down, performing essential COVID-19 research, and had a more coordinated institutional response for ramping up research as a whole. The lessons gained from this survey will be indexed to serve as a resource for the core facility community to understand, plan, and mitigate risk and disruptions in the event of future disasters.

Name It! Store It! Protect It!: A Systems Approach to Managing Data in Research Core Facilities.

As the capabilities of technology increase, so do the production of data and the need for data management. The need for data storage at many academic institutions is increasing exponentially. Technology is expanding rapidly, and institutions are recognizing the need to incorporate data management that can be available for future data sharing as a critical component of institutional services. The establishment of a process to manage the surge in data storage is complex and often hindered by not having a plan. Simple file naming-nomenclature-is also becoming ever more important to leave an established understanding of the contents in a file. This is especially the case as research experiences turnover from research projects and personnel. The indexing of files consistently also helps to identify past work. Finally, the protection of the data contents is becoming increasing challenging. As the genomic field expands, and medicine becomes more personalized, the identification of methods to protect the contents of data in both short- and long-term storage needs to be established so as not to risk the potential of revealing identifiable information. This is often something we do not consider in a nonclinical research environment. The need for establishing basic guidelines for institutions is critical, as individual research laboratories are unable to handle the scope of data storage required for their own research. In addition to the immediate needs for establishing guidelines on data storage and file naming and how to protect information, the recognition of the need for specialized support for data management supporting research cores and laboratories at academic institutions is becoming a critical component of institutional services. Here, we outline some case studies and methods that you may be able to adopt at your own institution.