A study reports that a rare genetic disease, while depleting patients of infection-fighting antibodies, may actually protect them from certain severe or recurrent viral infections. Researchers found that HIV and influenza viruses replicate in the cells of people with congenital disorder of glycosylation type IIb (CDG-IIb) at a much lower rate than in healthy donor cells, creating fewer and less infectious viruses.
The difference between merely throwing around buzzwords like “personalized medicine” and “big data” and delivering on their medical promise is in the details of developing methods for analyzing and interpreting genomic data. A pair of new papers show how integrating different kinds of genomic data could improve studies of the association between genes and disease.
Scientists at the Salk Institute have uncovered details into a surprising—and crucial—link between brain development and a gene whose mutation is tied to breast and ovarian cancer. Aside from better understanding neurological damage associated in a small percentage of people susceptible to breast cancers, the new work also helps to better understand the evolution of the brain.
From time to time, living cells will accidently make an extra copy of a gene during the normal replication process. Throughout the history of life, evolution has molded some of these seemingly superfluous genes into a source of genetic novelty, adaptation and diversity. A new study shows one way that some duplicate genes could have long-ago escaped elimination from the genome, leading to the genetic innovation seen in modern life.
Scientists may have discovered a new way to treat a type of childhood brain tumor that has proved incurable up until now, according to a recent study.
Researchers have generated a 3-D model of the human malaria parasite genome at three different stages in the parasite’s life cycle— the first time such 3-D architecture has been generated during the progression of the life cycle of a parasite.
In their pursuit of understanding how pain works at the molecular level, a research team has found a new function for MicroRNAs, short stretches of genetic material that signal genes to turn on or off.
Chances are you've heard of mapping genes to diagnose rare diseases, predict your risk of cancer and tell your ancestry. But to uncover food poisonings? The nation's disease detectives are beginning a program to try to outsmart outbreaks by routinely decoding the DNA of potentially deadly bacteria and viruses.
Researchers have identified a genetic association with facial asymmetry in an ancient cavefish, a natural trait that may solve mysteries surrounding facial asymmetries in humans—conditions such as cleft palate or hemifacial microsomia.
Not so long ago researchers thought that RNAs came in two types: coding RNAs that make proteins and non-coding RNAs that have structural roles. Then came the discovery of small RNAs that opened up whole new areas of research. Now researchers have come full circle and predicted that some long non-coding RNAs can give rise to small proteins that have biological functions.
In our third video, Rob Fee is back to discuss how informatics can help to overcome one of the biggest challenges in personalized medicine: organizing and examining the mountains of data that are generated during the gene sequencing process. Rob's advice? Find a bioinformatician...fast!
The International Peanut Genome Initiative—a group of multinational crop geneticists who have been working in tandem for the last several years—has successfully sequenced the peanut's genome. The new peanut genome sequence will be available to researchers and plant breeders across the globe to aid in the breeding of more productive and more resilient peanut varieties.
It's not a hair-brained idea: A new research report explains why people with a rare balding condition called "atrichia with papular lesions" lose their hair, and it identifies a strategy for reversing this hair loss. Specifically the report shows for the first time that the "human hairless gene" imparts an essential role in hair biology by regulating a subset of other hair genes.
Researchers at King’s College London and Imperial College London have discovered that people with fewer copies of a gene coding for a carb-digesting enzyme may be at higher risk of obesity. The findings suggest that dietary advice may need to be more tailored to an individual’s digestive system, based on whether they have the genetic predisposition and necessary enzymes to digest different foods.
Using a new gene-editing system based on bacterial proteins, MIT researchers have cured mice of a rare liver disorder caused by a single genetic mutation. The findings offer evidence that this gene-editing technique, known as CRISPR, can reverse disease symptoms in living animals, according to the research team.
A team of researchers believe their findings could have important implications for the way that rheumatoid arthritis is diagnosed and treated. They say that more accurate clinical testing is now needed to better identify rheumatoid arthritis and to prevent it being misdiagnosed.
Research published online in Blood presents an unprecedented look at five unique blood cells in the human body, pinpointing the location of key genetic regulators in these cells and providing a new tool that may help scientists to identify how blood cells form and shed light on the etiology of blood diseases.
Just as archeologists try to decipher ancient tablets to discern their meaning, UT Southwestern Medical Center cancer biologists are working to decode the purpose of an ancient gene considered one of the most important in cancer research. The p53 gene appears to be involved in signaling other cells instrumental in stopping tumor development. But the p53 gene predates cancer, so scientists are uncertain what its original function is.
Scientists have found that a simple blood test, which can read DNA, could be used to predict obesity levels in children. Researchers at the Universities of Southampton, Exeter and Plymouth used the test to assess the levels of epigenetic switches in the PGC1a gene – a gene that regulates fat storage in the body.
A team of scientists at Cold Spring Harbor Laboratory (CSHL) led by Professor Partha Mitra describes a new mathematical model that combines large data sets to predict where different types of cells are located within the brain, based on their molecular identity.
An international team of researchers developed a new technique for identifying gene enhancers – sequences of DNA that act to amplify the expression of a specific gene – in the genomes of humans and other mammals. Called SIF-seq, for site-specific integration fluorescence-activated cell sorting followed by sequencing, this new technique complements existing genomic tools and offers some additional benefits.
One in a thousand children in the United States is deaf, and one in three adults will experience significant hearing loss after the age of 65. Now a team of researchers discovered that using DNA as a drug in laboratory mice may protect the inner ear nerve cells of humans suffering from certain types of progressive hearing loss.
Why do neurodegenerative diseases such as Alzheimer’s affect only the elderly? More than a century of research into the causes of dementia has focused on the clumps and tangles of abnormal proteins that appear in the brains of people with neurodegenerative diseases. However, scientists know that at least one piece of the puzzle has been missing because some people with these abnormal protein clumps show few or no signs of cognitive decline.
Researchers at Columbia University Medical Center have devised a new system for classifying periodontal disease based on the genetic signature of affected tissue, rather than on clinical signs and symptoms. The new classification system may allow for earlier detection and more individualized treatment of severe periodontitis, before loss of teeth and supportive bone occurs.
Although genome-wide association studies have linked DNA variants in the gene SCN10A with increased risk for cardiac arrhythmia, efforts to determine the gene's direct influence on the heart's electrical activity have been unproductive. Now, scientists have discovered that these SCN10A variants regulate the function of a different gene, SCN5A, which appears to be the primary gene responsible for cardiac arrhythmia risk.