44 results about "Rare disease" patented technology

Disclosed are methods for detecting and / or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

We describe methods and apparatus for high-speed high-contrast imaging one-, two- and three-dimensional imaging enabled by differential interference contrast time encoded amplified microscopy of transparent media without the need for chemical staining, that are suitable for a broad range of applications from semiconductor process monitoring to blood screening. Our methods and apparatus build on a unique combination of serial time-encoded amplified microscopy (STEAM) and differential interference contrast (DIC) microscopy. These methods and apparatus are ideally suited for identification of rare diseased cells in a large population of healthy cells and have the potential to revolutionize blood analysis and pathology including identification of cancer cells, such as Circulating Tumor Cells (CTC) in early stage disease.

An online system and method enabling users to exchange information and establish collaboration in scientific projects on rare diseases is described. The website allows users to create a list of symptoms for a patient with a rare disease who is under their care. The patient's list of symptoms is then used to find other patients sharing a similar list of symptoms. A matching system creates a match report that ranks patients with similar symptoms. Once a list of potential matches is available, the user may take the initiative of contacting other colleagues with similar clinical cases under their care, for the purpose of exchanging information and / or establishing collaboration in scientific projects about a particular rare disease. A database containing information on rare diseases, along with other services, is also provided to the users at the website.

The invention discloses a zero-sample learning method based on data enhancement. The zero-sample learning method comprises the steps of drawing a contour of a focus, performing focus contour processing on the contour according to a morphological operation method, and then filling a color on the focus by means of a continuous gradient color filling method; increasing diversity of the focus with filled colors by means of a matrix linear transforming method, generating a plurality of simulated focus pictures, and combining the simulated focus pictures with a disease background picture by means ofimage fusion technology, and adding a Gaussian white noise to the fused picture for obtaining an expanded sample set; training a VGG classifier by means of the expanded sample set, and training an optimal classifier; and testing a dermatopathy case by means of the optimal classifier. The zero-sample learning method effectively settles a zero-sample learning auxiliary diagnosis problem of a rare disease.

A rare disease matching and prediction portal is provided where a number of symptoms are matched with a list of rare diseases to produce candidate diseases, after which the candidate diseases are evaluated based on weighted lists of symptoms for each candidate disease to produce a confidence indicating a likelihood that a patient suffers from one of the rare diseases. Information curated from publications and other curated databases related to rare diseases are utilized to determine the weighted list of symptoms for each disease based on prevalence relevance of each symptom to each candidate disease, and a customized algorithm is applied to determine the confidences for the candidate diseases. Along with the confidences, the portal may provide a disease profile for each disease which includes possible treatments for the candidate diseases. The patient may then be treated for at least one of the candidate diseases based on the confidences.

The invention discloses a rare disease medical data integration system based on the Internet. The system comprises a unified identity authentication and authorization unit, a rare disease metadata management subsystem, a rare disease category management and queue management subsystem, a rare disease custom form management subsystem, a rare disease knowledge base management subsystem, a rare disease case input subsystem and a decision analysis platform based on phenotypic information and genomics information of rare diseases. According to the invention, the medical data information of rare diseases is effectively collected, sorted, classified, summarized and cooperatively consulted; a comprehensive coverage information management system is established, and the medical data of rare diseasesare subjected to technical statistics and analysis, and then the Internet technology is used for coverage, so the comprehensive clinical treatment is provided for patients, and positive diagnosis reference is provided for medical institutions and professional doctors.

High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

The invention discloses a medical insurance big data based analysis method for measuring and calculating the incidence of rare diseases, and relates to medical insurance data processing and analysis technologies. Measured and calculated diseases are diseases that cannot be completely cured, so that people have to suffer from the diseases for life long time if the diseases are diagnosed. Numeratorand denominator information required by incidence calculation can be obtained by summarizing multiple key parameters of medical insurance data every month, so that the incidence can be obtained through calculation, wherein the numerator is the number of new cases of a target disease in a certain range of population within specific time, and the denominator is the number of exposed populations within the specific time, that is, people may have the target disease, but people, which have already had the disease and cannot become the new cases, need to be excluded. The incidence data can be obtained through the method, so that the development of epidemiological study of rare diseases can be promoted, and data and technology support can be provided for the reasonable making of clinical guidelines; and conversion applications of medical insurance big data can be further promoted, and the blank of epidemiological data on rare diseases in China can be filled up.

An online system and method enabling users to exchange information and establish collaboration in scientific projects on rare diseases is described. The website allows users to create a list of symptoms for a patient with a rare disease who is under their care. The patient's list of symptoms is then used to find other patients sharing a similar list of symptoms. A matching system creates a match report that ranks patients with similar symptoms. Once a list of potential matches is available, the user may take the initiative of contacting other colleagues with similar clinical cases under their care, for the purpose of exchanging information and / or establishing collaboration in scientific projects about a particular rare disease. A database containing information on rare diseases, along with other services, is also provided to the users at the website.

The invention discloses a rare disease registration system. The system comprises a client and a server end; the client and the server end perform data interaction; the server end comprises a rare disease knowledge base management module which is used for integrating rare disease related data from a plurality of data sources and providing the rare disease related data for a user; a rare disease case data sharing module which is used for counting case data of each rare disease for a user to check; and a rare disease registration service subsystem. Therare disease registration service subsystemcomprises a user identity authentication module used for managing user registration information of various users and verifying the user registration information of the users when the users log in the service subsystem; a workbench module used for providing a tool set used by a user during disease research; a group management module used for managing the research group created by the user; and a formtemplate management module used for managing the research form template related to each rare disease. According to the invention, researchers can be assisted to carry out effective rare disease research, so that the diagnosis efficiency of rare diseases is improved.

The invention discloses a rare disease auxiliary analysis method based on artificial intelligence. The method comprises the following steps of: obtaining a rare patient behavior log in a log source; extracting related features of a rare patient in the rare patient behavior log; performing similarity comparison on the related features of the rare patient and rare patient feature vectors in a rare patient feature library, and selecting the rare patient feature vector with the highest similarity as the feature vector of the rare patient; pushing a corresponding treatment scheme to the rare patient according to the feature vector of the rare patient; and conducting clustering analysis on the feature vector of the rare patient, and adding the feature vector of the rare patient to a corresponding position of a group feature library according to the clustering analysis result. According to the method, the group feature library can be perfected, a rare disease knowledge database can be established, the behaviors of a user can be analyzed, a corresponding treatment scheme can be pushed to the user according to the analysis result, and the problems of rare disease patient multivariate heterogeneous data storage and automatic analysis are solved.

The invention provides a method and a system for rapidly acquiring a rare disease pathogenic site. The method comprises the following steps: constructing a comparison pairing coordinate matrix, detecting variation and genotyping according to a difference comparison pairing mapping relationship and a position where the difference comparison pairing mapping relationship is located, and scoring all variation to screen out pathogenic / possible pathogenic variation. The method and the system constructed by the invention can be used for rapidly and comprehensively detecting the first-generation sequencing result of the rare disease gene and obtaining the pathogenic / possible pathogenic variation points, so that the error of artificial variation identification is avoided, and the working efficiencyand the variation detection accuracy and comprehensiveness are improved.

The invention discloses a system for rare diseases. The system comprises a user identity authentication and authority management module, an auditing management module, a metadata management module, aform template management module in communication connection with the metadata management module, a genotype acquisition module, a rare disease case data management module in communication connection with the form template management module and the genotype acquisition module, and an analysis module in communication connection with the rare disease case data management module. According to the invention, rare disease cases to be researched can be efficiently and comprehensively collected according to research purposes, research on possible interaction of genes and the environment during occurrence of diseases is carried out in combination with the computer technology, and the diagnosis efficiency of rare diseases is improved.

The invention discloses a method for detecting FUS gene mutation and TARDBP gene mutation. The invention establishes an analysis method based on PCR-HRM (high-resolution melting). The method can rapidly identify all known mutation and novel mutation in an amplification area and provides important technical means for discovery, genetic counseling and mechanism research of pathogenic genes of rare diseases such as ALS. Besides, the method is high in detection efficiency, high in accuracy and specificity, low in cost and simple to operate.

The invention relates to a whole exon data-based inbreeding family identification method, device and equipment, and belongs to the technical field of medical identification. The method comprises the following steps: obtaining exon sequences of sample genome DNA, and carrying out preset step treatment on the exon sequences to obtain a genotyping result corresponding to each sample genome DNA; on the basis of the genotyping result, obtaining the ROH data by using a preset tool; based on the genotyping result, utilizing a preset tool to obtain an inbreeding coefficient; and according to the ROH data and the inbreeding coefficient, obtaining an estimation result of whether the sample belongs to the inbreeding family or not. According to the method, the characteristic that rare diseases are usually more easily from recessive homozygosis of the inbreeding family is utilized, whether an unknown sample belongs to the inbreeding family or not is rapidly identified by integrating two genetic parameters (inbreeding coefficient and ROH) of whole exon sequencing data; the method is simple and rapid to operate, and a target sample can be rapidly separated and identified.

The present invention provides a therapeutic agent, etc., for various tumors, including angioimmunoblastic T-cell lymphoma (AITL), which is a rare disease. The present invention pertains to a therapeutic agent, etc., for tumors identified by phosphorylation of a proto-oncogene protein belonging to the VAV family, the therapeutic agent including dasatinib, a prodrug thereof, a pharmacologically acceptable salt of these, or a hydrate or solvate of these as an active ingredient.

The invention discloses a cross-platform distributed rare disease management system, which comprises an application layer, a middle layer, a data storage layer and a base layer; the application layercomprises a client, a WEB end and an API interface; the data storage layer comprises a database; the basic layer comprises a server and is used for managing rare diseases, integrating resource information related to the rare diseases and storing the resource information through the database. The resource information related to the rare diseases can be conveniently managed, and the resource information related to the rare diseases is centrally managed. The system can better perform analytical statistics on various data, improves the credibility level of analysis and statistics through big data,can be used for management of patients with rare diseases in hospitals, reduces the workload of medical staff, enables doctors to master the conditions of the patients conveniently, can be used for scientific research related to rare diseases, and provides sufficient medical record data and analysis and statistics support. Related organizations can master resource information related to the rarediseases and related conditions of the patients with the rare diseases through the system, and the application also benefits the patients with the rare diseases.

The invention discloses a rare disease research group management method. The method comprises the following steps: a server receives a single-center group creation request or a multi-center group creation request sent by a client corresponding to a user proposing a group creation request; the server directly creates a corresponding single-center group according to the single-center group creationrequest and allocates a group identifier to the single-center group; or the server verifies the multi-center group creation request; and if the verification is passed, the server creates a corresponding multi-center group according to the multi-center group creation request and allocates a group identifier to the multi-center group, and if the verification is not passed, the server sends a multi-center group verification result to a client corresponding to the user who makes the group creation request. According to the invention, researchers researching the same disease can form a group, and intra-group data sharing is realized, so that effective rare disease research can be carried out.

Disclosed are methods for detecting and / or prioritizing phenotype-causing genomic variants and related software tools. The methods include genomic feature based analysis and can combine variant frequency information with sequence characteristics such as amino acid substation. The methods disclosed are useful in any genomics study; for example, rare and common disease gene discovery, tumor growth mutation detection, personalized medicine, agricultural analysis, and centennial analysis.

The invention discloses a rare disease auxiliary reasoning method and system based on phenotype visualization. The method comprises the following steps: constructing a phenotype semantic hierarchy network and a rare disease phenotype feature network; calculating a phenotype co-occurrence relation and phenotype specificity of a disease; visualizing the phenotype semantic hierarchy network, the phenotype co-occurrence relationship and the rare disease phenotype feature network into a network graph; according to the phenotype semantic hierarchy network, the phenotype co-occurrence relation of the rare disease and the phenotype feature network of the rare disease, conducting similarity calculation on the collected phenotype features of the patient, and obtaining candidate diseases; optimizing the phenotype information of the patient based on the phenotype semantic hierarchy network, the phenotype co-occurrence relation of the rare diseases and the candidate diseases, and obtaining an optimized phenotype set; and comparing and displaying the candidate diseases and the optimized phenotype set by using a visual rare disease phenotype feature network, and assisting a doctor to identify and diagnose the rare disease. The method and the system can assist doctors in improving the diagnosis efficiency of rare diseases.

The invention discloses a method of transplanting and proliferating whole genomes for rare diseases in the medical field. The method is characterized in that according to surface receptors of cells, under the action of specific antibodies or polyethylene glycol, cells are easily in contact with cell membranes and are specifically fused with the cell membranes easily, the valid fusion rate is increased, and invalid fusion is reduced. According to a designed cell fusion method, rare genetic disease cells are fused with oncocytes in order to transplant oncogenicity genes and prepare rare diseasehybridoma cell strains with infinite proliferation performance, and the hybridoma cell strains are used for industrially preparing whole genomes of rare diseases. Through monoclonal objective gene screening and proliferation, a rear disease gene pool with monoclonal rear disease hybridoma cell strains as the storage unit is constructed and applied to collection of rare disease genes, industrial preparation and research of pathogeneses, serves as a gene pool for indoor quality control, indoor quality evaluation and reference comparison of diagnoses of rare disease genes and replaces existing reference comparison databases.

The invention discloses a rare disease diagnosis system and teaching application thereof. The rare disease diagnosis system comprises a cloud database, the cloud database is connected with a hospitalmaster control center through a verification system, the hospital master control center comprises a background server module, the background server module is sequentially connected with an informationmemory, a short message sending module, a keyword matching module, an examination data scanning input module and a disease risk degree analysis module, wherein the keyword matching module, the examination data scanning input module and the disease risk degree analysis module are connected with a foreground computer module, and the foreground computer module is connected with the background servermodule through a queuing module. The rare disease diagnosis system and the teaching application thereof have the advantages that diagnosis and treatment doctors with a certain experience can be quickly found, manpower and material resources are reduced, the probability that a patient runs back and forth to find treatment and consequently treatment is delayed is avoided, the referral speed is high, and the probability that the patient is treated and rehabilitated is increased.

The invention discloses a diagnostic marker of MRKH syndrome and application thereof. The diagnostic marker is a group of pathogenic genes related to MRKH syndrome carrying mutation sites. The research of the present invention utilizes the whole exome sequencing analysis to discover the following mutation sites on the PAX8 gene of patients with rare MRKH syndrome for the first time in the world: c.136G>A, c.266T>C, c. 619C>T, c.727C>G, the following mutation sites exist on the TBX6 gene: c.275_287dupTGGAGGAGGGCGG, c.621+1G>A. It has been verified by experiments that the genes carrying the above mutation sites can be used as diagnostic markers for MRKH syndrome, which can be used to diagnose whether a patient has MRKH syndrome, and provide a scientific basis for the next step of clinical early diagnosis of MRKH syndrome.

The invention discloses a rare disease case registration method. The method comprises the steps: S1, establishing a rare disease case registration system; S2, logging in the registration system through a pre-registered user account; S3, judging whether related rare diseases are added into the registration system or not: if so, skipping to the step S6, and otherwise, continuing to execute the stepS4; S4, uploading a to-be-checked file which needs to be submitted for performing queue research on related rare diseases to the registration system; S5, checking the to-be-checked file: if checking is passed, continuing to execute the step S6, and otherwise, returning to the step S4; S6, designing and generating metadata and a dictionary for related rare diseases; S7, making a research form by utilizing the metadata and the dictionary; S8, inputting the case data of the related rare diseases into the research form. According to the method, various rare disease cases can be efficiently and comprehensively collected, so a foundation is laid for a researcher to carry out effective rare disease research in the next step, and the diagnosis efficiency of rare diseases is improved.

The invention discloses a method for measuring and calculating the incidence of rare diseases based on medical insurance big data, which involves medical insurance data processing and analysis technology. The calculated diseases cannot be completely cured, and once diagnosed, they will suffer for life. By summarizing multiple key parameters of monthly medical insurance data, the numerator and denominator information required for the calculation of the incidence rate is obtained, and then the incidence rate is calculated; the required numerator is the number of new cases of the target disease in a certain range of people within a specific time; the required The denominator is the number of exposed population within a certain period of time, that is, people who may develop the target disease, and it is necessary to exclude people who are already sick and are unlikely to become new cases within a certain period of time. The method of the invention can obtain the incidence data of rare diseases, promote the development of epidemiological research on rare diseases, provide data and technical support for the rational formulation of clinical guidelines; further promote the transformation and application of medical insurance big data, and fill the epidemiology of rare diseases in my country blank data.

The invention discloses a rare disease information management method and device based on a B / S framework and a computer readable storage medium. The method comprises the following steps that 1, a researcher registers and logs in a rare disease information management system; 2, the researcher checks disease information of a certain rare disease in the rare disease information management system; step 3, the researcher adds patient case information of a certain rare disease into the disease information of the certain rare disease; 4, the researcher performs case analysis and research on the caseinformation of the patient with the rare disease. The method provided by the invention can assist the researcher to carry out effective rare disease research, and the diagnosis efficiency of rare diseases is improved.

The invention discloses a marker for MRKH syndrome diagnosis and its application in preparing a diagnostic kit. The diagnostic marker is a group of pathogenic gene mutation sites related to MRKH syndrome. The research of the present invention utilizes whole exome sequencing to discover for the first time the mutation site c.68G>T on the PAX8 gene and the mutation site c.367G>T on the BMP4 gene in patients with MRKH syndrome rare disease Mutation site c.‑132‑1G>A on BMP4 gene c.766C>T mutation site BMP7 gene mutation c.1036‑2A>G mutation site c.TBX6 gene .621+1G>A, mutation site c.976C>T in WNT9B gene. The invention provides key clues and research directions for further revealing the etiology and pathogenesis of MRKH syndrome.

The invention discloses a rare disease case registration system based on a B / S architecture, and the system comprises a client, a Web application server which is in communication connection with the client through the Internet, and a database server which is in communication connection with the Web application server through a switch. The client carries out data interaction with the Web application server through a Web browser. The Web application server comprises a user identity authentication and authority management assembly, an audit management assembly, a metadata management assembly, a form template management assembly in communication connection with the metadata management assembly, and a rare disease case data management assembly in communication connection with the form templatemanagement assembly. The database server comprises a rare disease case database server and a meta-database server. The system provided by the invention provides a plurality of tools which are easy touse and reliable, and can efficiently and comprehensively collect various rare disease cases, thereby laying a foundation for a next researcher to carry out effective rare disease research, and improving the diagnosis efficiency of rare diseases.

Devices for detection of antibodies against therapeutic drugs (ADAs), in which chimeric proteins facilitate immobilization and exposure of target epitopes, are described. Results can be obtained in minutes, enabling point of care testing and / or patient self-testing, and risk assessment. The data can also be used for deriving scientific knowledge in the fields of oncology, autoimmune diseases (including but not restricted to diabetes, multiple sclerosis and rheumatoid arthritis), cardiovascular diseases, rare diseases, and other diseases for which treatment comprises administration of a therapeutic drug and / or gene therapy.