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A biorepository is a facility that collects, catalogs, and stores samples of biological material for laboratory research. Biorepositories collect and manage specimens from animals, plants, and other living organisms. Biorepositories store many different types of specimens, including samples of blood, urine, tissue, cells, DNA, RNA, and proteins. If the samples are from people, they may be stored with medical information along with written consent to use the samples in laboratory studies. [1]
The purpose of a biorepository is to maintain biological specimens, and associated information, for future use in research. The biorepository maintains the quality of specimens in its collection and ensures that they are accessible for scientific research.
The four main operations of a biorepository are; (i) collection (ii) processing, (iii) storage or inventory, and (iv) distribution of biological specimens.
(i) Collection or accession occurs when a specimen arrives at the biorepository. Information about the specimen is entered into the laboratory information management system ("LIMS"), which tracks information about all of the specimens in the biorepository. Typical information linked to a specimen would be the specimen's origin and when it arrived at the biorepository.
(ii) Processing of specimens is standardized to minimize variation due to handling. Processing may prepare the specimen for long-term storage. For example, DNA samples are processed into a salt buffer (aqueous solution) of proper pH to stabilize the DNA for storage.
(iii) Storage and inventory are where all samples are held prior to being requested via a distribution request. The inventory system is composed of sample holding boxes and the boxes are stored in freezers of various types depending on the sample storage requirements.
(iv) Distribution is the process of retrieving one or more samples from the biorepository inventory system.
Standard Operating Procedures (SOPs) play a crucial role in the biorepository industry. There are a number of reasons why they are important:
The OECD has issued best practice guidelines for biorepositories, which are referred to as biological resource centres. [4] They are defined by the OECD as follows:
"Biological Resource Centres are an essential part of the infrastructure underpinning biotechnology. They consist of service providers and repositories of the living cells, genomes of organisms, and information relating to heredity and the functions of biological systems. BRCs contain collections of culturable organisms (e.g. micro-organisms, plant, animal and human cells), replicable parts of these (e.g. genomes, plasmids, viruses, cDNAs), viable but not yet culturable organisms, cells and tissues, as well as databases containing molecular, physiological and structural information relevant to these collections and related bioinformatics." [5]
Human cloning is the creation of a genetically identical copy of a human. The term is generally used to refer to artificial human cloning, which is the reproduction of human cells and tissue. It does not refer to the natural conception and delivery of identical twins. The possibilities of human cloning have raised controversies. These ethical concerns have prompted several nations to pass laws regarding human cloning.
Gene knockouts are a widely used genetic engineering technique that involves the targeted removal or inactivation of a specific gene within an organism's genome. This can be done through a variety of methods, including homologous recombination, CRISPR-Cas9, and TALENs.
Cellular differentiation is the process in which a stem cell changes from one type to a differentiated one. Usually, the cell changes to a more specialized type. Differentiation happens multiple times during the development of a multicellular organism as it changes from a simple zygote to a complex system of tissues and cell types. Differentiation continues in adulthood as adult stem cells divide and create fully differentiated daughter cells during tissue repair and during normal cell turnover. Some differentiation occurs in response to antigen exposure. Differentiation dramatically changes a cell's size, shape, membrane potential, metabolic activity, and responsiveness to signals. These changes are largely due to highly controlled modifications in gene expression and are the study of epigenetics. With a few exceptions, cellular differentiation almost never involves a change in the DNA sequence itself. However, metabolic composition does get altered quite dramatically where stem cells are characterized by abundant metabolites with highly unsaturated structures whose levels decrease upon differentiation. Thus, different cells can have very different physical characteristics despite having the same genome.
In cellular biology, a somatic cell, or vegetal cell, is any biological cell forming the body of a multicellular organism other than a gamete, germ cell, gametocyte or undifferentiated stem cell. Somatic cells compose the body of an organism and divide through mitosis.
Gametogenesis is a biological process by which diploid or haploid precursor cells undergo cell division and differentiation to form mature haploid gametes. Depending on the biological life cycle of the organism, gametogenesis occurs by meiotic division of diploid gametocytes into various gametes, or by mitosis. For example, plants produce gametes through mitosis in gametophytes. The gametophytes grow from haploid spores after sporic meiosis. The existence of a multicellular, haploid phase in the life cycle between meiosis and gametogenesis is also referred to as alternation of generations.
DNA banking is the secure, long term storage of an individual’s genetic material. DNA is most commonly extracted from blood, but can also be obtained from saliva and other tissues. DNA banks allow for conservation of genetic material and comparative analysis of an individual's genetic information. Analyzing an individual's DNA can allow scientists to predict genetic disorders, as used in preventive genetics or gene therapy, and prove that person's identity, as used in the criminal justice system. There are multiple methods for testing and analyzing genetic information including restriction fragment length polymorphism (RFLP) and polymerase chain reactions (PCR).
ATCC or the American Type Culture Collection is a nonprofit organization which collects, stores, and distributes standard reference microorganisms, cell lines and other materials for research and development. Established in 1925 to serve as a national center for depositing and distributing microbiological specimens, ATCC has since grown to distribute in over 150 countries. It is now the largest general culture collection in the world.
In biology, reprogramming refers to erasure and remodeling of epigenetic marks, such as DNA methylation, during mammalian development or in cell culture. Such control is also often associated with alternative covalent modifications of histones.
An organoid is a miniaturised and simplified version of an organ produced in vitro in three dimensions that mimics the key functional, structural and biological complexity of that organ. They are derived from one or a few cells from a tissue, embryonic stem cells or induced pluripotent stem cells, which can self-organize in three-dimensional culture owing to their self-renewal and differentiation capacities. The technique for growing organoids has rapidly improved since the early 2010s, and The Scientist names it as one of the biggest scientific advancements of 2013. Scientists and engineers use organoids to study development and disease in the laboratory, drug discovery and development in industry, personalized diagnostics and medicine, gene and cell therapies, tissue engineering and regenerative medicine.
In biology and medicine, stem cell genomics is the analysis of the genomes of stem cells. Currently, this field is rapidly expanding due to the dramatic decrease in the cost of sequencing genomes. The study of stem cell genomics has wide reaching implications in the study of stem cell biology and possible therapeutic usages of stem cells.
Genetic Alliance is a nonprofit organization, founded in 1986 by Joan O. Weiss, working with Victor A. McKusick, to advocate for health benefits in the accelerating field of genomic research. This organization is a network of over 1,000 disease advocacy organizations, universities, government organizations, private companies, and public policy organizations. They aim to advance genetic research agendas toward health benefit by engaging a broad range of stakeholders, including healthcare providers, researchers, industry professionals, public policy leaders, as well as individuals, families and communities. They create programs using a collaborative approach, and aim to increase efficiency and reduce obstacles in genetic research, while ensuring that voices from the involved disease communities are heard. They also promote public policies to advance healthcare. Genetic Alliance provides technical support and informational resources to guide disease-specific advocacy organizations in being their own research advocates. They also maintain a biobank as a central storage facility for several organizations who otherwise would not have the infrastructure to maintain their own repository.
Induced pluripotent stem cells are a type of pluripotent stem cell that can be generated directly from a somatic cell. The iPSC technology was pioneered by Shinya Yamanaka and Kazutoshi Takahashi in Kyoto, Japan, who together showed in 2006 that the introduction of four specific genes, collectively known as Yamanaka factors, encoding transcription factors could convert somatic cells into pluripotent stem cells. Shinya Yamanaka was awarded the 2012 Nobel Prize along with Sir John Gurdon "for the discovery that mature cells can be reprogrammed to become pluripotent."
A biobank is a type of biorepository that stores biological samples for use in research. Biobanks have become an important resource in medical research, supporting many types of contemporary research like genomics and personalized medicine.
A biological specimen is a biological laboratory specimen held by a biorepository for research. Such a specimen would be taken by sampling so as to be representative of any other specimen taken from the source of the specimen. When biological specimens are stored, ideally they remain equivalent to freshly-collected specimens for the purposes of research.
The International Society for Biological and Environmental Repositories (ISBER) is a professional society of individuals and organizations involved in biospecimen banking. Its main activities include creating educational and training opportunities, providing an online forum service, showcasing related products and services, and creating opportunities for networking. It also has published works.
Biomatrica is a United States-based biotechnology company, and subsidiary of Exact Sciences Corporation, that develops chemicals for ambient temperature preservation of biological materials for the purpose of expanding the availability and accuracy of medical diagnostics and research. Specifically, the company focuses on improving the stability of biological materials, such as DNA, RNA, proteins, cells from patient samples used in research, and diagnostic testing reagents. Company scientists have developed alternatives to existing preservation technologies, such as cold storage and lyophilization (freeze-drying), to prevent degradation of perishable biological materials. Biomatrica's technologies are used in applications such as pre-analytic sample collection, diagnostic assays, biobanking, forensics, and basic research.
The Coriell Institute for Medical Research is an independent, non-profit biomedical research center dedicated to the study of the human genome. Coriell features programs in biobanking, personalized medicine, cell biology, cytogenetics, genotyping, and induced pluripotent stem cell science. Located in downtown Camden, New Jersey, the Institute has partnered with several prominent state and national health leaders, including Cooper University Hospital, the Cooper Medical School of Rowan University, the United States Air Force, the University of Pennsylvania, and Stanford University.
The Centre for Genomic Regulation is a biomedical and genomics research centre based on Barcelona. Most of its facilities and laboratories are located in the Barcelona Biomedical Research Park, in front of Somorrostro beach.
DNA encryption is the process of hiding or perplexing genetic information by a computational method in order to improve genetic privacy in DNA sequencing processes. The human genome is complex and long, but it is very possible to interpret important, and identifying, information from smaller variabilities, rather than reading the entire genome. A whole human genome is a string of 3.2 billion base paired nucleotides, the building blocks of life, but between individuals the genetic variation differs only by 0.5%, an important 0.5% that accounts for all of human diversity, the pathology of different diseases, and ancestral story. Emerging strategies incorporate different methods, such as randomization algorithms and cryptographic approaches, to de-identify the genetic sequence from the individual, and fundamentally, isolate only the necessary information while protecting the rest of the genome from unnecessary inquiry. The priority now is to ascertain which methods are robust, and how policy should ensure the ongoing protection of genetic privacy.
Giuseppe Merla is an Italian scientist who is a Full Professor of Molecular Biology at University of Naples Federico II, Naples, Italy and medical geneticist at Casa Sollievo della Sofferenza in San Giovanni Rotondo, Italy. He is the Managing Director of Fondazione Telethon-Genomic and Genetics Disorders Biobank, a member of EuroBioBank at the Casa Sollievo della Sofferenza Hospital. Merla and his team led the discovery of a new rare genetic syndrome intellectual development disorder with cardiac arrhythmia and the gene responsible for it. Merla is also known for his extensive research on Kabuki Syndrome. He has been declared as the Ambassador of Kabuki syndrome and received the 2019 Ambassador Day award at the Royal Villa of Monza.