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DNA, or deoxyribonucleic acid, is the hereditary material in humans and almost all other organisms. Nearly every cell in a person’s body has the same DNA. Most DNA is located in the cell nucleus (where it is called nuclear DNA), but a small amount of DNA can also be found in the mitochondria (where it is called mitochondrial DNA or mtDNA).

The information in DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Human DNA consists of about 3 billion bases, and more than 99 percent of those bases are the same in all people. The order, or sequence, of these bases determines the information available for building and maintaining an organism, similar to the way in which letters of the alphabet appear in a certain order to form words and sentences.

DNA bases pair up with each other, A with T and C with G, to form units called base pairs. Each base is also attached to a sugar molecule and a phosphate molecule. Together, a base, sugar, and phosphate are called a nucleotide. Nucleotides are arranged in two long strands that form a spiral called a double helix. The structure of the double helix is somewhat like a ladder, with the base pairs forming the ladder’s rungs and the sugar and phosphate molecules forming the vertical sidepieces of the ladder.

An important property of DNA is that it can replicate, or make copies of itself. Each strand of DNA in the double helix can serve as a pattern for duplicating the sequence of bases. This is critical when cells divide because each new cell needs to have an exact copy of the DNA present in the old cell.
Researchers discover link between acute liver failure and specific gene mutations in young children

Researchers discover link between acute liver failure and specific gene mutations in young children

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München, the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene. [More]
Researchers establish link between NBAS gene and acute liver failure

Researchers establish link between NBAS gene and acute liver failure

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. Now, a team of researchers working on an international research project headed by Technische Universität München (TUM), the Helmholtz Zentrum Munich and Heidelberg University Hospital have discovered a link between the disease and mutations in a specific gene. [More]
Latent CMV infection induces telomere shortening

Latent CMV infection induces telomere shortening

The telomeres are repetitive DNA sequences at each end of our chromosomes. Studies show that in every cell division, the telomere is shortened. As a result, the telomere limits the cell to a fixed number of divisions and a limited life span. An essential part of human cells they affect how our cells age - as people with longer telomeres live longer lives. Surprisingly, people who are infected with a latent virus, that is, an asymptomatic virus, have shorter telomeres. [More]
BGI's DNA sequencing laboratory in Hong Kong accredited by CAP

BGI's DNA sequencing laboratory in Hong Kong accredited by CAP

BGI announced today that its high-throughput DNA sequencing laboratory in Hong Kong has been accredited by the American College of Pathologists. The BGI Hong Kong facility is the first clinical next-generation-sequencing laboratory to receive the CAP certification in China, meeting the highest standard in clinical laboratory practices. [More]
Histones steadily replaced in brain cells throughout life, find Mount Sinai researchers

Histones steadily replaced in brain cells throughout life, find Mount Sinai researchers

For decades, researchers in the genetics field have theorized that the protein spools around which DNA is wound, histones, remain constant in the brain, never changing after development in the womb. [More]
Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Study of genetic mutations could lead to optimized treatment plans for aplastic anemia patients

Scientists have identified a group of genetic mutations in patients with aplastic anemia, which likely will help doctors optimize treatment for this rare and deadly blood condition. The study, appearing in the New England Journal of Medicine, could lead to tailor-made treatment plans for aplastic anemia patients as part of the emerging precision medicine movement. [More]
Law enforcement now has Snapshot DNA Phenotyping Service that helps nab suspects, close cases

Law enforcement now has Snapshot DNA Phenotyping Service that helps nab suspects, close cases

Law enforcement now has a new DNA tool that helps nab suspects and close cases. The service, developed by Parabon NanoLabs of Reston, Virginia, is called Snapshot DNA Phenotyping Service. 'Snapshot' predicts the physical appearance of individuals from the smallest of DNA evidence samples, creating a composite image from any DNA source. [More]
Scientists identify new protein that affects growth of secondary breast tumours in the brain

Scientists identify new protein that affects growth of secondary breast tumours in the brain

Scientists from the University of Leeds and The Institute of Cancer Research, London, have discovered a new protein which triggers the growth of blood vessels in breast cancer tumours which have spread to the brain, a common location which breast cancer can spread to. [More]
University of Georgia's Lynn Bailey leads international paper on folate biomarkers

University of Georgia's Lynn Bailey leads international paper on folate biomarkers

A University of Georgia researcher is lead author on an international paper on folate biomarkers as part of an initiative to provide evidence-based guidance for the global nutrition and public health community. [More]
UVA Health System opens high-tech clinical genomics lab

UVA Health System opens high-tech clinical genomics lab

The University of Virginia Health System has opened a high-tech clinical genomics lab that will personalize care for patients, help doctors determine the best treatments for cancers and other diseases, and allow UVA to offer the most cutting-edge clinical trials. [More]
Nuclea and Aelan partner to develop, commercialize novel biomarker tests using STEM cells as models

Nuclea and Aelan partner to develop, commercialize novel biomarker tests using STEM cells as models

Nuclea Biotechnologies Inc. announced today that it is partnering with Aelan Cell Technologies Inc. (San Francisco, California) for the development, validation and commercialization of novel biomarker tests and companion diagnostics using human STEM cells as models. [More]
Multiple courses of antibiotics may have significant impact on child development

Multiple courses of antibiotics may have significant impact on child development

A new animal study by NYU Langone Medical Center researchers adds to growing evidence that multiple courses of commonly used antibiotics may have a significant impact on children's development. [More]
dlDNA marks progression of HBV-related liver disease

dlDNA marks progression of HBV-related liver disease

The level of serum duplex-linear DNA increases markedly with liver disease progression and development of hepatocellular carcinoma in patients with chronic hepatitis B virus (HBV) infection, suggests research published in Gut. [More]
Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers explore why some mutations can cause severe disease in humans, but benign in animals

Researchers at Duke University School of Medicine and Brigham and Women's Hospital, Harvard Medical School have identified a mechanism that explains why some mutations can be disease-causing in one genome but benign in another. [More]
Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Imperial College London researchers discover new inherited form of obesity, type 2 diabetes

Scientists have discovered a new inherited form of obesity and type 2 diabetes in humans. A large number of genes are involved in regulating body weight, and there are now over 30 genes known in which people with harmful changes in DNA sequence become extremely overweight. Similarly, there are a number of genes that can, when altered, cause type 2 diabetes. These conditions are inherited through families in exactly the same way as disorders such as cystic fibrosis or Huntington's disease. [More]
Researchers identify better way to screen for lung cancer

Researchers identify better way to screen for lung cancer

The Valley Hospital in Ridgewood, NJ, is pleased to announce that two of its oncologists and a research scientist are helping pave the way to an easier, more accurate, less invasive way to screen for the most common form of lung cancer. Lung cancer is the most common cancer in men worldwide and the number one cancer killer in the United States. [More]
Scientists develop high-throughput strategy to build de novo genomes

Scientists develop high-throughput strategy to build de novo genomes

Scientists from the Icahn School of Medicine at Mount Sinai have developed a new approach to build nearly complete genomes by combining high-throughput DNA sequencing with genome mapping. The methodology enabled researchers to detect complex forms of genomic variation, critically important for their association with human disease, but previously difficult to detect. [More]
Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for choroideremia now underway at Royal Alexandra Hospital

Canada's first human gene therapy trial for eyes -- the replacement of a faulty gene with a healthy one -- is now underway at the Royal Alexandra Hospital to preserve and potentially restore vision for people with a genetic disorder that leaves them blind by middle age. [More]
Kay E. Davies named recipient of ASHG's 2015 William Allan Award

Kay E. Davies named recipient of ASHG's 2015 William Allan Award

The American Society of Human Genetics has named Kay E. Davies, DPhil, Dr. Lee's professor of anatomy, associate head of the medical sciences division; and director of the Medical Research Council Functional Genomics Unit in the department of physiology, anatomy and genetics at the University of Oxford, the 2015 recipient of the annual William Allan Award. [More]
Study may lead to better treatments for children with neuroblastoma

Study may lead to better treatments for children with neuroblastoma

Researchers studying the pediatric cancer neuroblastoma have detailed how cancer-driving mutations evolve during chemotherapy, and they hope to exploit this knowledge to design better treatments for children. [More]
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