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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).

Researchers discover HS1.2 enhancer as the cause of SLE

A "genetic accelerator" is responsible for the most severe cases of Lupus (systemic lupus erythemathosus), an autoimmune disease: the accelerator, called enhancer HS1.2, speeds up the activity of some critical genes of the immune system involved in the disease.

17 Jan 2012

Source of infantile epilepsy found in a gene

Researchers from Adelaide have discovered a 20-year mystery about a type of epilepsy in infants. It is caused by a single mutation in one gene they found. The discovery will allow for better screening, diagnosis and prediction of the risk of seizures for sufferers of benign familial infantile epilepsy, the researchers say.

16 Jan 2012

NimbleGen Sequence Capture 385K array identifies gene mutations linked with hereditary hearing loss

Hereditary hearing loss is the most common sensory disorder in humans. A German research team led by Ingo Kurth from the Institute of Human Genetics at the University Hospital Jena, Germany, used a number of different methods, including Roche's NimbleGen Custom Sequence Capture 385K array to identify the gene mutated in the disease locus of the X-chromosome of a Spanish family with hereditary hearing loss.

13 Jan 2012

Cryo-electron microscopy can visualize structures within viruses

Since the discovery of the microscope, scientists have tried to visualize smaller and smaller structures to provide insights into the inner workings of human cells, bacteria and viruses. Now, researchers at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, have developed a new way to see structures within viruses that were not clearly seen before.

13 Jan 2012

Study shows how Notch gene and PRC2 protein complex work together to cause T-ALL

A new study published in the journal Nature Medicine by NYU Cancer Institute researchers, shows how the cancer causing gene Notch, in combination with a mutated Polycomb Repressive Complex 2 (PRC2) protein complex, work together to cause T- cell acute lymphoblastic leukemia.

13 Jan 2012

Clinical trial to compare Aria's prenatal test and standard first-trimester screening for T21

Aria Diagnostics, a molecular diagnostics company, announced that it is initiating a blinded, multicenter clinical trial that compares its non-invasive prenatal test with the standard first-trimester screening test (serum screening and nuchal translucency ultrasound alone and in combination) to detect Trisomy 21, which is associated with Down syndrome.

13 Jan 2012

Genetic link to prostate cancer discovered

A new study has found that men who inherit a rare genetic mutation are 10 to 20 times more likely than average to develop prostate cancer. The gene variant may help explain cases of the disease that run in families and strike men at unusually young ages.

12 Jan 2012

New NIST clinical SRM can help in accurate CMV detection and treatment

A new clinical Standard Reference Material (SRM) from the National Institute of Standards and Technology (NIST) will help health care professionals more accurately diagnose and treat cytomegalovirus (CMV), a common pathogen that is particularly dangerous for infants and persons with weakened immune systems.

12 Jan 2012

GnuBIO to complete development of SCD genetic panel

GnuBIO, Inc., a pioneer in scalable desktop DNA sequencing and the Montreal Heart Institute (MHI) have announced today that they will complete the development of a genetic panel in order to screen patients to determine the risk for sudden cardiac death, SCD.

12 Jan 2012

First details of genetic alterations that fuel early T-cell precursor ALL

Researchers have discovered that a subtype of leukemia characterized by a poor prognosis is fueled by mutations in pathways distinctly different from a seemingly similar leukemia associated with a much better outcome. The findings from the St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP) highlight a possible new strategy for treating patients with this more aggressive cancer.

12 Jan 2012

Chemotherapy drugs can lead to relapse of leukemia

The chemotherapy drugs required to push a common form of adult leukemia into remission may contribute to DNA damage that can lead to a relapse of the disease in some patients, findings of a new study suggest.

12 Jan 2012

Scientists identify rare genetic mutation linked to prostate cancer

After a 20-year quest to find a genetic driver for prostate cancer that strikes men at younger ages and runs in families, researchers have identified a rare, inherited mutation linked to a significantly higher risk of the disease.

12 Jan 2012

St. Jude introduces 'Explore' website for pediatric genome project

St. Jude Children's Research Hospital has launched a freely available website for published research results from the St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP). The PCGP is the largest effort to date aimed at sequencing the entire genomes of both normal and cancer cells from pediatric cancer patients, comparing differences in the DNA to identify genetic mistakes that lead to childhood cancers.

12 Jan 2012

Researchers identify mechanism that makes retinoblastoma so aggressive

New findings from the St. Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project (PCGP) have helped identify the mechanism that makes the childhood eye tumor retinoblastoma so aggressive. The discovery explains why the tumor develops so rapidly while other cancers can take years or even decades to form.

11 Jan 2012

DNA may be used to predict lifespan: Study

Researchers may soon be able to predict how long a person will live based on their genetics. This could result from the discovery by a University of Glasgow team in Scotland showing that telomere length on the ends of DNA in their genes in early-life predicts life spans.

11 Jan 2012

DNA decoder – cheaper and faster

Life Technologies Corp. – a biotechnology company announced Tuesday that it has developed a machine to decode an individual's DNA in a day for just $1,000. The company said it was taking orders for the technology, which it expects to deliver in about a year. The Carlsbad, California, company said three major research institutions had already signed up for the $149,000 machine: the Baylor College of Medicine, the Yale School of Medicine and the Broad Institute of Cambridge, Massachusetts.

11 Jan 2012

Potential human health risk from illegal wildlife trade

An article released today in PLoS ONE entitled, Zoonotic Viruses Associated with Illegally Imported Wildlife Products, from a collaborative study led by the U.S. Centers for Disease Control and Prevention (CDC), identified evidence of retroviruses and herpesviruses in illegally imported wildlife products confiscated at several U.S. international airports, including John F. Kennedy International Airport, George Bush Intercontinental-Houston and Atlanta Hartsfield-Jackson International.

11 Jan 2012

UCSF, Sanofi enter $3.1 million collaboration to identify diabetes drug targets

The University of California, San Francisco has signed an alliance with international pharmaceutical company Sanofi to share expertise in diabetes research and identify drug targets that could lead to new therapies for both type 1 and type 2 diabetes.

11 Jan 2012

Erlotinib better for treatment of non-small cell lung cancers

Researchers at Johns Hopkins have shown that DNA changes in a gene that drives the growth of a form of lung cancer can make the cancer's cells resistant to cancer drugs.

11 Jan 2012

Damon Runyon Cancer Research Foundation names 18 new Fellows

The Damon Runyon Cancer Research Foundation, a non-profit organization focused on supporting innovative early career researchers, named 18 new Damon Runyon Fellows at its fall Fellowship Award Committee review.

11 Jan 2012