The Resilience Project
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The Resilience Project
The Resilience Project is a project, undertaken by the Icahn School of Medicine at Mount Sinai in collaboration with Sage Bionetworks. Overview The project seeks to identify protective factors against disease through collaboration with people who have significant risk factors for disease that nevertheless do not manifest typical signs and symptoms. In a pilot study, big data was used to identify individuals with apparent resistance to severe genetic disease. This approach may seem weird, since the gene that is known to cause a genetic disorder could also be dealt with (head on) by just using overwriting the genetic code of this faulty gene with "good code" using gene therapy. However, there is never just one version of "good code" (even people that do not have a disorder, the gene that is otherwise known to cause the defect can be present with different code). So rather than having to deal with these problems, Stephen Friend decided to use a workaround method (which consists of t ...
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Icahn School Of Medicine At Mount Sinai
The Icahn School of Medicine at Mount Sinai (ISMMS or Mount Sinai), formerly the Mount Sinai School of Medicine, is a private medical school in New York City. It is the academic teaching arm of the Mount Sinai Health System, which manages eight hospital campuses in the New York metropolitan area, including Mount Sinai Hospital and the New York Eye and Ear Infirmary. Mount Sinai is ranked #11 among American medical schools by the 2023 '' U.S. News & World Report''.https://www.usnews.com/best-graduate-schools/top-medical-schools/icahn-school-of-medicine-at-mount-sinai-04072 In 2021, it was ranked 15th in the country for biomedical research and leads the country in research funding from the National Institutes of Health for neuroscience (#2) and genetics (#2). It attracted over $400 million in total NIH funding in 2021. Mount Sinai's faculty includes 23 elected members of the National Academies of Sciences, Engineering, and Medicine and 40 members of the American Society for Cl ...
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Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice of ...
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Emerging Technologies
Emerging technologies are technologies whose development, practical applications, or both are still largely unrealized. These technologies are generally new but also include older technologies finding new applications. Emerging technologies are often perceived as capable of changing the status quo. Emerging technologies are characterized by radical novelty (in application even if not in origins), relatively fast growth, coherence, prominent impact, and uncertainty and ambiguity. In other words, an emerging technology can be defined as "a radically novel and relatively fast growing technology characterised by a certain degree of coherence persisting over time and with the potential to exert a considerable impact on the socio-economic domain(s) which is observed in terms of the composition of actors, institutions and patterns of interactions among those, along with the associated knowledge production processes. Its most prominent impact, however, lies in the future and so in the ...
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Databases In The United States
In computing, a database is an organized collection of data stored and accessed electronically. Small databases can be stored on a file system, while large databases are hosted on computer clusters or cloud storage. The design of databases spans formal techniques and practical considerations, including data modeling, efficient data representation and storage, query languages, security and privacy of sensitive data, and distributed computing issues, including supporting concurrent access and fault tolerance. A database management system (DBMS) is the software that interacts with end users, applications, and the database itself to capture and analyze the data. The DBMS software additionally encompasses the core facilities provided to administer the database. The sum total of the database, the DBMS and the associated applications can be referred to as a database system. Often the term "database" is also used loosely to refer to any of the DBMS, the database system or an application ...
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Big Data
Though used sometimes loosely partly because of a lack of formal definition, the interpretation that seems to best describe Big data is the one associated with large body of information that we could not comprehend when used only in smaller amounts. In it primary definition though, Big data refers to data sets that are too large or complex to be dealt with by traditional data-processing application software. Data with many fields (rows) offer greater statistical power, while data with higher complexity (more attributes or columns) may lead to a higher false discovery rate. Big data analysis challenges include capturing data, data storage, data analysis, search, sharing, transfer, visualization, querying, updating, information privacy, and data source. Big data was originally associated with three key concepts: ''volume'', ''variety'', and ''velocity''. The analysis of big data presents challenges in sampling, and thus previously allowing for only observations and sampling. ...
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Applied Genetics
Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an organism's genes using technology. It is a set of Genetic engineering techniques, technologies used to change the genetic makeup of cells, including the transfer of genes within and across species boundaries to produce improved or novel organisms. New DNA is obtained by either isolating and copying the genetic material of interest using recombinant DNA methods or by Artificial gene synthesis, artificially synthesising the DNA. A Vector (molecular biology), construct is usually created and used to insert this DNA into the host organism. The first recombinant DNA molecule was made by Paul Berg in 1972 by combining DNA from the monkey virus SV40 with the Lambda phage, lambda virus. As well as inserting genes, the process can be used to remove, or "Gene knockout, knock out", genes. The new DNA can be inserted randomly, or Gene targeting, targeted to a specific ...
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Broad Institute
The Eli and Edythe L. Broad Institute of MIT and Harvard (IPA: , pronunciation respelling: ), often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, Cambridge, Massachusetts, United States. The institute is independently governed and supported as a 501(c)(3) nonprofit research organization under the name Broad Institute Inc., and it partners with the Massachusetts Institute of Technology, Harvard University, and the five Harvard teaching hospitals. History The Broad Institute evolved from a decade of research collaborations among MIT and Harvard scientists. One cornerstone was the Center for Genome Research of Whitehead Institute at MIT. Founded in 1982, the Whitehead became a major center for genomics and the Human Genome Project. As early as 1995, scientists at the Whitehead started pilot projects in genomic medicine, forming an unofficial collaborative network among young scientists interested in genomic a ...
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Beijing Genomics Institute
BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian District, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Project. It also sequences the genomes of other animals, plants and microorganisms. BGI has transformed from a small research institute, notable for decoding the DNA of pandas and rice plants, into a diversified company active in animal cloning, health testing, and contract research. BGI's earlier research was continued by the Beijing Institute of Genomics, Chinese Academy of Sciences. BGI Research, the group's nonprofit division, works with the Institute of Genomics and operates the China National GeneBank under a contract with the Chinese government. BGI Genomics, a subsidiary, was listed on the Shenzhen Stock Exchange in 2017. In 2021, details came to light about multiple controversies involving the BGI Group. These controversies include al ...
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23andMe
23andMe Holding Co. is a publicly held personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva sample that is laboratory analysed, using single nucleotide polymorphism genotyping, to generate reports relating to the customer's ancestry and genetic predispositions to health-related topics. The company's name is derived from the 23 pairs of chromosomes in a wild-type human cell. The company had a previously fraught relationship with the United States Food and Drug Administration (FDA) due to its genetic health tests; as of October 2015, DNA tests ordered in the US include a revised health component, per FDA approval. 23andMe has been selling a product with both ancestry and health-related components in Canada since October 2014, and in the UK since December 2014. In 2007, 23andMe became the first company to begin offering autosomal DNA tes ...
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Sage Bionetworks
Sage Bionetworks is a nonprofit organization in Seattle that promotes open science and patient engagement in the research process. It is led by Lara Mangravite. It was co-founded by Stephen Friend and Eric Schadt. Open science Sage Bionetworks is notable for being an early advocate of open science. The company operates a software platform for collaborative data analysis called Synapse that allows researchers to work together on data curation and computational modeling asynchronously in a manner inspired by GitHub. Synapse also serves as the software infrastructure for running computational challenges. Sage is also developing a citizen-science platform called Bridge. Research The bulk of Sage's scientific results emerge from cancer and neurosciences, with notable contributions to the Cancer Genome Atlas Pan-Cancer project. Another Sage initiative, ''The Resilience Project'' describes itself as a search for individuals who have genetic changes expected to cause severe illness bu ...
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