Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective

Background Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder characterized by congenital malformations of the great toes and progressive heterotopic ossification of soft and connective tissues. Assiduous attention to the unmet needs of this patient community is crucial to prevent potential iatrogenic harm and optimize care for individuals with FOP. Objective To gather international expert opinion and real-world experience on the key challenges for individuals with FOP and their families, highlight critical gaps in care, communication, and research, and provide recommendations for improvement. Methods An international group of expert clinicians, patients and patient advocates, caregivers and representatives from the international FOP community participated in a virtual, half-day meeting on 22 March 2021 to discuss the key unmet needs of individuals with FOP. Results Individuals with FOP often face the frustration of long diagnostic journeys, the burden of self-advocacy and the navigation of novel care pathways. Globally, patients with FOP are also confronted with inequities in access to diagnosis and specialist care, and consequently, unequal access to registries, clinical trials, and essential support from patient associations. Organizations such as the International FOP Association, the International Clinical Council on FOP, and national FOP organizations work to provide information, facilitate access to expert clinical guidance, nurture patient empowerment, fund FOP research and/or foster meaningful collaborations with the research community. The non-profit Tin Soldiers Global FOP Patient Search program aims to identify and provide a pathway to diagnosis and care for individuals with FOP, particularly in underserved communities. Such global initiatives and the increasingly widespread use of telemedicine and digital platforms offer opportunities to improve vital access to care and research. Conclusions This multi-stakeholder perspective highlights some of the unmet needs of individuals with FOP and their families. Regional and international organizations play an important role in improving the quality of life of those they reach in the global FOP community. However, globally, fundamental issues remain around raising awareness of FOP among healthcare professionals, identifying individuals with FOP, reducing time to diagnosis, and ensuring access to best practice in care, support, and clinical research. Medical writing support was industry-sponsored

Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Bridging the gap: A library‐based collaboration to enhance data skills for clinical researchers

Abstract Introduction Enterprise data warehouses (EDWs) serve as foundational infrastructure in a modern learning health system, housing clinical and other system‐wide data and making it available for research, strategic, and quality improvement purposes. Building on a longstanding partnership between Northwestern University's Galter Health Sciences Library and the Northwestern Medicine Enterprise Data Warehouse (NMEDW), an end‐to‐end clinical research data management (cRDM) program was created to enhance clinical data workforce capacity and further expand related library‐based services for the campus. Methods The training program covers topics such as clinical database architecture, clinical coding standards, and translation of research questions into queries for proper data extraction. Here we describe this program, including partners and motivations, technical and social components, integration of FAIR principles into clinical data research workflows, and the long‐term implications for this work to serve as a blueprint of best practice workflows for clinical research to support library and EDW partnerships at other institutions. Results This training program has enhanced the partnership between our institution's health sciences library and clinical data warehouse to provide support services for researchers, resulting in more efficient training workflows. Through instruction on best practices for preserving and sharing outputs, researchers are given the tools to improve the reproducibility and reusability of their work, which has positive effects for the researchers as well as for the university. All training resources have been made publicly available so that those who support this critical need at other institutions can build on our efforts. Conclusions Library‐based partnerships to support training and consultation offer an important vehicle for clinical data science capacity building in learning health systems. The cRDM program launched by Galter Library and the NMEDW is an example of this type of partnership and builds on a strong foundation of past collaboration, expanding the scope of clinical data support services and training on campus

User Testing with Microinteractions

Enabling and supporting discoverability of research outputs and datasets are key functions of university and academic health center institutional repositories. Yet adoption rates among potential repository users are hampered by a number of factors, prominent among which are difficulties with basic usability. In their efforts to implement a local instance of InvenioRDM, a turnkey next generation repository, team members at Northwestern University’s Galter Health Sciences Library & Learning Center supplemented agile development principles and methods and a user experience design-centered approach with observations of users’ microinteractions (interactions with each part of the software’s interface that requires human intervention). Microinteractions were observed through user testing sessions conducted in Fall 2019. The result has been a more user-informed development effort incorporating the experiences and viewpoints of a multidisciplinary team of researchers spanning multiple departments of a highly ranked research university