Illumina, Emedgene Partner to Automate Data Analysis for Rare Diseases

A simple automated image analysis algorithm has been developed that processes consecutive images from high speed, high resolution digital images of burning fuel droplets. The droplets burn under conditions that promote spherical symmetry. The algorithm performs the tasks of edge detection of the droplet’s boundary using a grayscale intensity threshold, and shape fitting either a circle or ellipse to the droplet’s boundary. The results are compared to manual measurements of droplet diameters done with commercial software. Results show that it is possible to automate data analysis for consecutive droplet burning images even in the presence of a significant amount of noise from soot formation. An adaptive grayscale intensity threshold provides the ability to extract droplet diameters for the wide range of noise encountered. In instances where soot blocks portions of the droplet, the algorithm manages to provide accurate measurements if a circle fit is used instead of an ellipse fit, as an ellipse can be too accommodating to the disturbance.

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RARASnet: Mapping, infrastructure and data analysis for the Brazilian Network of Rare Diseases - a Study Protocol (Preprint)

10.2196/preprints.24826 ◽

2020 ◽

Author(s):

Domingos Alves ◽

Diego Bettiol Yamada ◽

Filipe Andrade Bernardi ◽

Isabelle Carvalho ◽

Márcio Eloi ◽

...

Keyword(s):

Data Analysis ◽

Rare Disease ◽

Rare Diseases ◽

Health Professionals ◽

Medical Condition ◽

Digital Health ◽

Health Indicators ◽

Disease Diagnosis ◽

World Health ◽

Network Member

BACKGROUND A rare disease is a medical condition with low prevalence in the general population, but that collectively can affect up to 10% of the population. Thus, rare diseases have a significant impact on the healthcare system, and health professionals must be familiar with the diagnosis, management, and treatment. OBJECTIVE To provide health indicators regarding the rare diseases in Brazil, and to create a network of reference centers with health professionals from different regions of the country, the RARASnet proposes to map, analyze and communicate all the data regarding the infrastructure of the centers, and the patient's evolution or needs. The focus of the proposed study is to provide all the technical infrastructure and analysis following the World Health Organization and the Brazilian Ministry of Health guidelines. METHODS To build this digitized system, we will provide a security framework to assure the privacy and protection of each patient when collecting data. Also, DevOps methodologies will be applied to align software development, infrastructure operation, and quality assurance. After data collection of all information designed by specialists, the computational analysis, modeling, and results will be communicated in scientific research papers and in a digital health observatory. RESULTS The project has several activities and it is in an initial stage. Initially, a survey was applied to all health care centers to understand the technical aspects of each network member such as the existence of computers,technical support staff, and digitized systems. In this survey, we detected that 64% of participating health units have electronic medical records, while 36% have paper records. Therefore, we will have different strategies to access the data from each center. CONCLUSIONS The nature of rare disease diagnosis is complex and diverse, and many problems will be faced in the evolution of the project. However, decisions based on data analysis are the best option for the improvement of the rare disease network in Brazil. The creation of the RARASnet, along with all the digitized infrastructure, can improve the accessibility of information and standardization of the rare diseases in the country.

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Microchemical imaging in biomedical research

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100130225 ◽

1992 ◽

Vol 50 (2) ◽

pp. 1118-1119

Author(s):

P. Ingram

Keyword(s):

Data Analysis ◽

Electron Probe ◽

The Other ◽

X Ray ◽

Cell Element ◽

Physiological Information ◽

Functional States ◽

Elemental Maps ◽

Electron Energy Loss ◽

Secondary Ion

It is well established that unique physiological information can be obtained by rapidly freezing cells in various functional states and analyzing the cell element content and distribution by electron probe x-ray microanalysis. (The other techniques of microanalysis that are amenable to imaging, such as electron energy loss spectroscopy, secondary ion mass spectroscopy, particle induced x-ray emission etc., are not addressed in this tutorial.) However, the usual processes of data acquisition are labor intensive and lengthy, requiring that x-ray counts be collected from individually selected regions of each cell in question and that data analysis be performed subsequent to data collection. A judicious combination of quantitative elemental maps and static raster probes adds not only an additional overall perception of what is occurring during a particular biological manipulation or event, but substantially increases data productivity. Recent advances in microcomputer instrumentation and software have made readily feasible the acquisition and processing of digital quantitative x-ray maps of one to several cells.

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The Collaborative Network Approach: a model for advancing patient-centric research for Castleman disease and other rare diseases

Emerging Topics in Life Sciences ◽

10.1042/etls20180178 ◽

2019 ◽

Vol 3 (1) ◽

pp. 97-105

Author(s):

Mary Zuccato ◽

Dustin Shilling ◽

David C. Fajgenbaum

Keyword(s):

Rare Diseases ◽

Treatment Options ◽

Castleman Disease ◽

High Impact ◽

Collaborative Network ◽

Network Approach ◽

Grant Applications ◽

Research Questions ◽

Novel Strategy ◽

Patient Centric

Abstract There are ∼7000 rare diseases affecting 30 000 000 individuals in the U.S.A. 95% of these rare diseases do not have a single Food and Drug Administration-approved therapy. Relatively, limited progress has been made to develop new or repurpose existing therapies for these disorders, in part because traditional funding models are not as effective when applied to rare diseases. Due to the suboptimal research infrastructure and treatment options for Castleman disease, the Castleman Disease Collaborative Network (CDCN), founded in 2012, spearheaded a novel strategy for advancing biomedical research, the ‘Collaborative Network Approach’. At its heart, the Collaborative Network Approach leverages and integrates the entire community of stakeholders — patients, physicians and researchers — to identify and prioritize high-impact research questions. It then recruits the most qualified researchers to conduct these studies. In parallel, patients are empowered to fight back by supporting research through fundraising and providing their biospecimens and clinical data. This approach democratizes research, allowing the entire community to identify the most clinically relevant and pressing questions; any idea can be translated into a study rather than limiting research to the ideas proposed by researchers in grant applications. Preliminary results from the CDCN and other organizations that have followed its Collaborative Network Approach suggest that this model is generalizable across rare diseases.

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Perceptions of a Collaborative Professional Learning Program: Seeing the “Bigger Picture”

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_persp-19-00041 ◽

2020 ◽

Vol 5 (1) ◽

pp. 290-303

Author(s):

P. Charlie Buckley ◽

Kimberly A. Murza ◽

Tami Cassel

Keyword(s):

Data Analysis ◽

Professional Learning ◽

Social Communication ◽

Special Educators ◽

Service Providers ◽

Integrative Approach ◽

Theory Approach ◽

Learning Program ◽

Speech Language Pathologists ◽

Related Service

Purpose The purpose of this study was to explore the perceptions of special education practitioners (i.e., speech-language pathologists, special educators, para-educators, and other related service providers) on their role as communication partners after participation in the Social Communication and Engagement Triad (Buckley et al., 2015 ) yearlong professional learning program. Method A qualitative approach using interviews and purposeful sampling was used. A total of 22 participants who completed participation in either Year 1 or Year 2 of the program were interviewed. Participants were speech-language pathologists, special educators, para-educators, and other related service providers. Using a grounded theory approach (Glaser & Strauss, 1967 ) to data analysis, open, axial, and selective coding procedures were followed. Results Three themes emerged from the data analysis and included engagement as the goal, role as a communication partner, and importance of collaboration. Conclusions Findings supported the notion that educators see the value of an integrative approach to service delivery, supporting students' social communication and engagement across the school day but also recognizing the challenges they face in making this a reality.

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