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SciCrunch Registry is a curated repository of scientific resources, with a focus on biomedical resources, including tools, databases, and core facilities - visit SciCrunch to register your resource.
The Deciphering Developmental Disorders (DDD) study aims to find out if using new genetic technologies can help doctors understand why patients get developmental disorders. To do this we have brought together doctors in the 23 NHS Regional Genetics Services throughout the UK and scientists at the Wellcome Trust Sanger Institute, a charitably funded research institute which played a world-leading role in sequencing (reading) the human genome. The DDD study involves experts in clinical, molecular and statistical genetics, as well as ethics and social science. It has a Scientific Advisory Board consisting of scientists, doctors, a lawyer and patient representative, and has received National ethical approval in the UK. Over the next few years, we are aiming to collect DNA and clinical information from 12,000 undiagnosed children in the UK with developmental disorders and their parents. The results of the DDD study will provide a unique, online catalogue of genetic changes linked to clinical features that will enable clinicians to diagnose developmental disorders. Furthermore, the study will enable the design of more efficient and cheaper diagnostic assays for relevant genetic testing to be offered to all such patients in the UK and so transform clinical practice for children with developmental disorders. Over time, the work will also improve understanding of how genetic changes cause developmental disorders and why the severity of the disease varies in individuals. The Sanger Institute will contribute to the DDD study by performing genetic analysis of DNA samples from patients with developmental disorders, and their parents, recruited into the study through the Regional Genetics Services. Using microarray technology and the latest DNA sequencing methods, research teams will probe genetic information to identify mutations (DNA errors or rearrangements) and establish if these mutations play a role in the developmental disorders observed in patients. The DDD initiative grew out of the groundbreaking DECIPHER database, a global partnership of clinical genetics centres set up in 2004, which allows researchers and clinicians to share clinical and genomic data from patients worldwide. The DDD study aims to transform the power of DECIPHER as a diagnostic tool for use by clinicians. As well as improving patient care, the DDD team will empower researchers in the field by making the data generated securely available to other research teams around the world. By assembling a solid resource of high-quality, high-resolution and consistent genomic data, the leaders of the DDD study hope to extend the reach of DECIPHER across a broader spectrum of disorders than is currently possible.
Proper citation: Deciphering Developmental Disorders (RRID:SCR_006171) Copy
http://www.birncommunity.org/tools-catalog/human-imaging-database-hid/
THIS RESOURCE IS NO LONGER IN SERVICE. Documented October 5, 2017.
Database management system developed to handle the increasingly large and diverse datasets collected as part of the MBIRN and FBIRN collaboratories and throughout clinical imaging communities at large. The HID can be extended to contain relevant information concerning experimental subjects, assessments of subjects, the experimental data collected, the experimental protocols, and other metadata normally included with experiments.
Proper citation: Human Imaging Database (RRID:SCR_006126) Copy
Online repository of open access images including MR Sessions, MRI, Freesurfer APARC, Freesurfer ASEGs, Clinical Assessments, Atlas Scaling Factors, and Fast Segmentations data. CENTRAL currently contains 374 Projects, 3808 Subjects, and 5174 Imaging Sessions (June 2014). Central is powered by XNAT (The Extensible Neuroimaging Archive Toolkit), an open source software platform designed to facilitate management and exploration of neuroimaging and related data. XNAT includes a secure database backend and a rich web-based user interface.
Proper citation: XNAT Central (RRID:SCR_006235) Copy
An ontology for the description of biological and clinical investigations built with international, collaborative effort. The ontology represents the design of an investigation, the protocols and instrumentation used, the material used, the data generated and the type analysis performed on it. This includes a set of universal terms that are applicable across various biological and technological domains, and domain-specific terms relevant only to a given domain. Currently OBI is being built under the Basic Formal Ontology (BFO). This project was formerly titled the Functional Genomics Investigation Ontology (FuGO) project.
Proper citation: Ontology for Biomedical Investigations (RRID:SCR_006266) Copy
Authoritative, need-to-know information from Johns Hopkins available for mobile devices and the web. Guides provide up to date information and break down details of diagnosis, drug indications, dosing, pharmacokinetics, side effects and interactions, pathogens, management, and vaccines into frequently-updated, quick-read entries. Available for infectious disease (ABX), diabetes, and HIV.
Proper citation: Johns Hopkins Point of Care Guides (RRID:SCR_006314) Copy
http://www.patientcrossroads.com/
A trusted third-party gatekeeper of patient data from participants in a rare disease ecosystem, collecting and managing the information in a scalable, cost-effective manner. Each patient registry provides critical disease knowledge which makes that disease easier to study, increasing the probability a treatment can be developed. PatientCrossroads takes a network approach to patient registry programs. Unlike companies that merely sell registry software, we offer a full range of administration, management, and genetic curation services. What does this consolidated, patient-centric approach to patient registries mean? * Patients can more easily find registries and provide their valuable data (including locations of blood and tissue samples as well as reports of diagnoses, disease symptoms, treatment usage, and lifestyle activities) * Patients can be confident in the privacy of their de-identified data and the knowledge that PatientCrossroads does not sell patient data * Researchers and pharmaceutical companies have a larger, more easily accessible pool of potential patients for research studies and clinical trials targeting specific rare diseases * Pharmaceutical companies can collect post-market surveillance data in a more scalable and cost-effective manner * Rare disease advocacy and research foundations can more easily organize their global patient populations for inclusion in trials and studies
Proper citation: PatientCrossroads (RRID:SCR_006279) Copy
THIS RESOURCE IS NO LONGER IN SERVICE, documented on August 19,2021.Designed with the neurosurgeon in mind, this portal contains everything you need to acquire new skills and techniques, including courses, an image database, and the world''s largest neurosurgical wiki reference - NeuroWiki. The new University of Neurosurgery includes: * More than 40 new online courses - in all neurosurgical subspecialties. * Archived webinars. * Lectures from the CNS Annual Meetings. * Neurosurgical image database. We are continuing to add new content - check back often.
Proper citation: Congress of Neurological Surgeons University of Neurosurgery (RRID:SCR_006309) Copy
http://www.autoimmunitycenters.org/
Nine centers that conduct clinical trials and basic research on new immune-based therapies for autoimmune diseases. This program enhances interactions between scientists and clinicians in order to accelerate the translation of research findings into medical applications. By promoting better coordination and communication, and enabling limited resources to be pooled, ACEs is one of NIAID''''s primary vehicles for both expanding our knowledge and improving our ability to effectively prevent and treat autoimmune diseases. This coordinated approach incorporates key recommendations of the NIH Autoimmune Diseases Research Plan and will ensure progress in identifying new and highly effective therapies for autoimmune diseases. ACEs is advancing the search for effective treatments through: * Diverse Autoimmunity Expertise Medical researchers at ACEs include rheumatologists, neurologists, gastroenterologists, and endocrinologists who are among the elite in their respective fields. * Strong Mechanistic Foundation ACEs augment each clinical trial with extensive basic studies designed to enhance understanding of the mechanisms responsible for tolerance initiation, maintenance, or loss, including the role of cytokines, regulatory T cells, and accessory cells, to name a few. * Streamlined Patient Recruitment The cooperative nature of ACEs helps scientists recruit patients from distinct geographical areas. The rigorous clinical and basic science approach of ACEs helps maintain a high level of treatment and analysis, enabling informative comparisons between patient groups.
Proper citation: Autoimmunity Centers of Excellence (RRID:SCR_006510) Copy
https://repository.niddk.nih.gov/home/
NIDDK Central Repositories are two separate contract funded components that work together to store data and samples from significant, NIDDK funded studies. First component is Biorepository that gathers, stores, and distributes biological samples from studies. Biorepository works with investigators in new and ongoing studies as realtime storage facility for archival samples.Second component is Data Repository that gathers, stores and distributes incremental or finished datasets from NIDDK funded studies Data Repository helps active data coordinating centers prepare databases and incremental datasets for archiving and for carrying out restricted queries of stored databases. Data Repository serves as Data Coordinating Center and website manager for NIDDK Central Repositories website.
Proper citation: NIDDK Central Repository (RRID:SCR_006542) Copy
Initiative to assemble a multicenter team of expert neuroscientists to evaluate the late effects of Traumatic brain injury (TBI), including single and repetitive TBI of varying severity, and Chronic Traumatic Encephalopathy (CTE), using histological examination of postmortem bio specimens and neuroimaging tools as a foundation to develop in vivo diagnostics. As a first aim, this proposal will bring together a team of 5 accomplished neuropathologists in neurodegenerative disease to establish consensus criteria for the post-mortem diagnosis of CTE. This team will also define the stages of CTE pathology, the features that differentiate CTE from other neurodegenerations and the effects of substance abuse, and the characteristics of posttraumatic neurodegeneration after single TBI. As a second aim, this proposal will establish a national bio specimen and data bank for TBI (Understanding Neurological Injury and Traumatic Encephalopathy (UNITE) bio bank) by developing a nationwide brain donor registry and hotline to acquire high quality bio specimens and data. The UNITE bank will use strictly standardized protocols and a web-based interface to ensure that tissue and data are readily available to qualified investigators. Comprehensive retrospective clinical data including clinical symptoms, brain trauma and substance abuse history, and medical records (including common data elements) will be entered into a secure database. Behavioral/ mood dysfunction, cognitive changes, substance abuse and traumatic exposure will be correlated with quantitative assessment of the multifocal tauopathy, Ass deposition and axonal injury. As a third aim, neuroimaging signatures of the neuropathology will be determined in post-mortem tissue using high spatial resolution diffusion tensor imaging (DTI) and autoradiography using a highly selective PET ligand for tau. Quantitative assessment of axonal injury, tau, and Ass will be correlated with ex vivo DTI abnormalities and tau ligand autoradiography. Pilot neuroimaging studies of individuals at high risk for the development of CTE will also be conducted in the final 2 years of the proposal. This proposal will determine the clinical and neuroimaging correlates of CTE and posttraumatic neurodegeneration and create the groundwork for establishing their incidence and prevalence. This study will have a tremendous impact on public health of millions of Americans and greatly increase our understanding of the latent effects of brain trauma.
Proper citation: CTE and Post-traumatic Neurodegeneration: Neuropathology and Ex Vivo Imaging (RRID:SCR_006543) Copy
Data and knowledge management infrastructure for the new Center for Clinical and Translational Science (CCTS) at the University of Utah. This clinical cohort search tool is used to search across the University of Utah clinical data warehouse and the Utah Population Database for people who satisfy various criteria of the researchers. It uses the i2b2 front end but has a set of terminology servers, metadata servers and federated query tool as the back end systems. FURTHeR does on-the-fly translation of search terms and data models across the source systems and returns a count of results by unique individuals. They are extending the set of databases that can be queried.
Proper citation: FURTHeR (RRID:SCR_006383) Copy
Software application that supports the execution of multivariable prediction models with patient-specific characteristics so that personalized estimates of outcomes, often as a function of alternative treatments, can be generated within the routine flow of patient care. This can support evidence-based, shared medical decision-making to improve the safety, outcomes and cost-effectiveness of care. The current application is in the setting of generating individualized informed consent documents for PCI. However, the tool can support that translation of novel biomarkers, genetics and pharmacogenomic interactions into clinical care. The platform gives healthcare providers instantaneous access to the latest clinical prediction models coupled with rich visualization tools. These models may come from national organizations, outcomes researchers or a specific institution. In addition to decision support applications, it can be used to rapidly create personalized educational materials, patient letters, informed consent documents and a broad array of other items that can help elevate the quality of healthcare delivery.
Proper citation: ePRISM (RRID:SCR_006386) Copy
An open-source natural language processing system for information extraction from electronic medical record clinical free-text. This is a system through which one creates one or more pipelines to process clinical notes and to identify clinical named entities. It processes clinical notes, identifying types of clinical named entities, drugs, diseases/disorders, signs/symptoms, anatomical sites and procedures. Each named entity that is found is given attributes for the text span, the ontology mapping code, the context (family history of, current, unrelated to patient), and negated/not negated. cTAKES is built on the UIMA framework. cTAKES 2.5 does not provide a GUI of its own for installation or processing. The cTAKES documentation shows how to use the GUIs provided by the UIMA framework, and how to run cTAKES from a command line. Before using cTAKES you need to know that cTAKES does not provide any mechanisms of its own to handle patient data securely. It is assumed that cTAKES is installed on a system that can process patient data, or that any data being processed by cTAKES has already been through a deidentification step in order to comply with any applicable laws. The tool has been developed and deployed at Mayo Clinic since early 2000.
Proper citation: cTAKES (RRID:SCR_006379) Copy
http://www.nkdep.nih.gov/lab-evaluation/gfr/creatinine-standardization.shtml
Standard specification to reduce inter-laboratory variation in creatinine assay calibration and therefore enable more accurate estimates of glomerular filtration rate (eGFR). Created by NKDEP''''s Laboratory Working Group in collaboration with the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) and the European Communities Confederation of Clinical Chemistry (now called the European Federation of Clinical Chemistry and Laboratory Medicine), the effort is part of a larger NKDEP initiative to help health care providers better identify and treat chronic kidney disease in order to prevent or delay kidney failure and improve patient outcomes. Recommendations are intended for the USA and other countries or regions that have largely completed standardization of creatinine calibration to be traceable to an isotope dilution mass spectrometry (IDMS) reference measurement procedure. The program''''s focus is to facilitate the sharing of information to assist in vitro diagnostic manufacturers, clinical laboratories, and others in the laboratory community with calibrating their serum creatinine measurement procedures to be traceable to isotope dilution mass spectrometry (IDMS). The program also supports manufacturers'''' efforts to encourage their customers in the laboratory to coordinate use of standardized creatinine methods with implementation of a revised GFR estimating equation appropriate for use with standardized creatinine methods. Communication resources and other information for various segments of the laboratory community are available in the Creatinine Standardization Recommendations section of the website. Also available is a protocol for calibrating creatinine measurements using whole blood devices. The National Institute for Standards and Technology (NIST) released a standard reference material (SRM 967 Creatinine in Frozen Human Serum) for use in establishing calibrations for routine creatinine measurement procedures. SRM 967 was validated to be commutable with native serum samples for many routine creatinine procedures and is useful to establish or verify traceability to an IDMS reference measurement procedure. Establishing calibrations for serum creatinine methods using SRM 967 not only provides a mechanism for ensuring more accurate measurement of serum creatinine, but also enables more accurate estimates of GFR. For clinical laboratories interested in independently checking the calibration supplied by their creatinine reagent suppliers/manufacturers, periodic measurement of NIST SRM 967 should be considered for inclusion in the lab''''s internal quality assurance program. To learn more about SRM 967, including how to purchase it, visit the NIST website, https://www-s.nist.gov/srmors/quickSearch.cfm
Proper citation: Creatinine Standardization Program (RRID:SCR_006441) Copy
Online catalog of human genes and genetic disorders, for clinical features, phenotypes and genes. Collection of human genes and genetic phenotypes, focusing on relationship between phenotype and genotype. Referenced overviews in OMIM contain information on all known mendelian disorders and variety of related genes. It is updated daily, and entries contain copious links to other genetics resources.
Proper citation: OMIM (RRID:SCR_006437) Copy
Online community for industry news and careers for life science professionals.
Proper citation: BioSpace (RRID:SCR_012010) Copy
http://www.nichd.nih.gov/research/supported/pages/tbi.aspx
The National Center for Medical Rehabilitation Research (NCMRR) established a multi-center network of sites that are working together to design clinical intervention protocols and measures of outcome for TBI. Through rigorous patient evaluation, using common protocols and interventions designed for multiple points of care����??including the accident scene, emergency room, intensive care unit, rehabilitation and long-term follow-up����??the NCMRR TBI Clinical Trials Network can study the required numbers of patients to provide answers more rapidly than individual centers acting alone. This interdisciplinary research Network is designed to evaluate the relationship among acute care practice, rehabilitation strategies, and the long-term functional outcome of TBI patients����??that is, to identify which intervention variables result in improvements in long-term outcomes. Taking advantage of the network model structure has allowed TBI research to progress toward a number of clinical research goals. Specifically, the NCMRR wants to highlight two major achievements to date. First, the TBI Network created a profile of its typical patient to determine the number of patients with different clinical features who might be eligible for future studies and to help estimate recruitment times necessary. Second, Network researchers are developing clinical treatment guidelines and procedures for all points in the continuum of care, including TBI Clinical Trials Network Guidelines for surgical care, systems-based protocol for severe and moderate TBI patients, deep-vein thrombosis prophylaxis procedures, and rehabilitation guidelines for physical therapy, speech-language pathology, occupational therapy, and neuropsychology.
Proper citation: Traumatic Brain Injury Clinical Trials Network (RRID:SCR_013165) Copy
Database of images on medical parasitology created to provide educational materials for medical students primarily, but professional workers in medical or paramedical fields may also refer to this site covering the significant parasites in the world. Each database of protozoans, nematodes, trematodes, cestodes and arthropods contains information on the morphology, life cycle, geographical distribution, symptoms, prevention, etc. Users who wish to contribute can send the editor unpublished images of human parasites (microscopical, clinical, radiological or epidemiological aspects of human parasitic infections) by mail or e-mail. Pathology specimens (slide, samples) are welcome too. The A.M.P. received the citation of reliable sources such as Parasitology today and The Lancet, and is now listed in the Internet Resources on Specific Infectious Diseases Topics of the Mandell, Douglas and Bennets Principles and Practice of Infectious Diseases Fifth Edition.
This website was established with a great contribution of the PROJECT COLLABORATORS and many contributors of The Korean Society for Parasitology.
Proper citation: Atlas of Medical Parasitology (RRID:SCR_008163) Copy
http://www.hopkins-hivguide.org/
Launched in 2004, the HIV Guide is a single disease resource, with two main parts: the HIV database, which is accessed by searching on diagnosis, drug name, pathogen, or management or by accessing the resistance tool, and there are also browsable areas of the site, which include news, features, continuing medical education programs and other types of additional readings and information. Guides are authored by academic clinicians and subject to rigorous peer review. You may browse the guide by: Diagnosis Covering opportunistic infections, malignancies, and complications of therapy. Drugs Includes indications, dosing, drug interactions, and author recommendations. Pathogen - Describes microbiology, clinical syndromes, and therapy. Management Including antiretroviral therapy guidelines and strategies. Resistance Tool Provides up-to-date interpretation of genotypic resistance test results. Whether searching for a drug, a pathogen, a diagnosis, or a management issue, your search results will be delivered in a concise and standard form designed to give you the most clinically useful information first, with the option to go deeper if you choose. If you search by diagnosis, you will receive a page listing points covering establishment of a diagnosis, related pathogens, treatment recommendations, issues to consider on follow up, references and more. At each step, we provide you immediately with the information you need to treat the diagnosis and give you the option to read more or more deeply if you choose. On the diagnosis page, you are also provided with links to the information sheet for each drug that may be prescribed, and if you indicate which drug you intend to use, you will be provided with relevant drug selected comments. If you search by drug, you will receive a page listing FDA indications, usual adult dosing, adverse drug reactions, drug interactions, spectrum, and forms. You are also able to access full pharmacological information (mechanism, absorption, Cmax, volume of distribution, protein binding, metabolism/excretion, t _, dosing for glomerular filtration of 50-80, dosing for glomerular filtration of 10-50, dosing for glomerular filtration of <10 ml/min, dosing in hemodialysis, dosing in peritoneal dialysis, dosing in cavh, dosing for decreased hepatic function, pregnancy risk, and breast feeding compatibility). If you search by pathogen, you will receive a page covering the microbiology, clinical relevance, sites of infection, drug selected comments, other information and references. You are also provided with links to information for each drug that may be prescribed, and if you indicate which drug you intend to use, you will be provided with the drug selected comments for that choice. If you search by management, you will receive a page listing definition, indications, and clinical recommendations and additional details, including references. If you click on more wherever it appears on a page, you will find more detailed material about the topic. In addition, the HIV Guide homepage contains a Features section and Literature Review that contain synopses and articles about pertinent topics. The Publications section also provides .pdf versions of the Hopkins HIV Report. Prices represent the cost per unit specified, reflecting the Average Wholesale Price (AWP). AWP prices are taken from the Red Book, manufacturer information, and the McKesson database. These prices are updated every six months. We have listed up to 10 FDA-approved indications for uses of drugs. Though in some cases more may exist, for brevity and formatting issues authors and editors have chosen what they deem the most important. Also listed are disease states for which a drug may be likely prescribed regardless of FDA approval status (see Non-FDA approved uses). The HIV Guide is primarily focused on adult care but does cover issues of perinatal transmission. The material presented on this site represents the considered opinion of the Hopkins expert listed as the author of the module as of the date indicated. The reference section contains an annotated list of the articles that the author considers to be most relevant to the topic. Where authoritative guidelines exist, such as CDC, IDSA or Medical Letter guidelines, they are referenced and discussed along with the author''s recommendations presented.
Proper citation: HIV Guide (RRID:SCR_008252) Copy
http://www.hopkins-abxguide.org/
Concise, clinically useful information for diagnosing, managing and treating infectious diseases in adults; however it does cover some pediatric topics including vaccines. It is designed for primary care providers and other non-infectious disease specialists as a tool that can be used at the point of care to assist in prescribing antibiotics.
Proper citation: ABX Guide (RRID:SCR_008214) Copy
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