Do you run when you should stay? Are you afraid of all the wrong things? An enzyme deficiency might be to blame, reveals new research in mice by scientists at the University of Southern California.
An international team of scientists has identified 29 new genetic variants linked to multiple sclerosis, providing key insights into the biology of an important and very debilitating neurological disease.
Combining the expertise of several different labs, University of Iowa researchers have found a new genetic cause of the blinding eye disease retinitis pigmentosa (RP) and, in the process, discovered an entirely new version of the message that codes for the affected protein.
Whitehead Institute researchers have discovered how yeast cells protect themselves against a novel type of chromosome fragility that occurs in repeated DNA during meiosis—the cell division that produces spores in fungi or eggs and sperm in plants and animals.
By working with individuals suffering from a severe disorder that causes sensory neurons to degenerate, researchers at the University of Montreal Hospital and CHU Sainte-Justine Hospital have discovered how a specific genetic mutation causes their patients’ condition, which in turn has revealed more information about the mechanisms in our bodies which enable us to sense pain.
A new national collaboration of asthma genetics researchers has revealed a novel gene associated with the disease in African-Americans, and study confirmed the significance of four gene associations reported by a European asthma genetics study.
Baltimore, MD; Boston and Cambridge MA; Pittsburgh, PA; and Houston, TX . Thurs. July 28, 2011 -- Powerful new technologies that zoom in on the connections between human genes and diseases have illuminated the landscape of cancer, singling out changes in tumor DNA that drive the development of certain types of malignancies such as melanoma or ovarian cancer.
A Kansas State University genomicist is hoping an old potato chip slogan -- "betcha can't eat just one" -- will become the mindset of researchers when it comes to sequencing insect genomes.
The states should develop clear and open policies regarding retention and research uses of dried blood spot specimens left over from newborn screening, according to a new set of "recommendations for national guidance" published in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics. The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.
A team led by the University of Maryland School of Medicine Institute for Genome Sciences unraveled the genomic code of the E. coli that caused the German outbreak that began in May.
Using human breast cancer cells and the protein that causes fireflies to glow, a Johns Hopkins team has shed light on why some breast cancer cells become resistant to the anticancer effects of the drug tamoxifen. The key is a discovery of two genetic “dimmer switches” that apparently control how a breast cancer gene responds to the female hormone estrogen.
A substantial number of people with eating disorders, such as anorexia nervosa have a chronic course. They are severely underweight and have a high likelihood of dying from malnutrition. No treatment has been found that helps people who are chronically ill. Now, a new study sheds light on the reason that some people have poor outcome.
A molecular technique originally developed at the University of North Carolina at Chapel Hill has taken one step closer to becoming a treatment for the devastating genetic disease Duchenne muscular dystrophy.
An international study, based on a doctoral thesis conducted at the University of Haifa, has discovered how a newly discovered gene played a central role in the transition of aquatic plants to land plants – a process that led to life on land as we know it today.
A GWAS found two genetic variations that predict which patients with Hodgkin's lymphoma are likely to develop radiation-induced second cancers years after treatment. This could help physicians reduce the risks for susceptible patients. Younger patients and those who receive more radiation are most at risk.
Stem cell researchers at UCLA have generated the first genome-wide mapping of a DNA modification called 5-hydroxymethylcytosine (5hmC) in embryonic stem cells, and discovered that it is predominantly found in genes that are turned on, or active.
Researchers seeking rare gene variants in ADHD found that one patient had causative mutations in an unrelated disorder. The finding has implications about how to best return such information to research subjects.
A team of researchers from the University of Utah and Brigham Young University has developed a mouse model of focal dermal hypoplasia, a rare human birth defect that causes serious skin abnormalities and other medical problems. This animal model not only provides insight into studying the cause of focal dermal hypoplasia (FDH), but also offers a novel way to study a signaling pathway that is crucial for embryonic development.
Some of the human X chromosome originates from Neanderthals and is found exclusively in people outside Africa.
Researchers at UT Southwestern Medical Center say there are at least 70 genetic mutations involved in the formation of colon cancer, far more than scientists previously thought.
Researchers have discovered a new gene mutation they say causes Parkinson’s disease. The mutation was identified in a large Swiss family with Parkinson’s disease, using advanced DNA sequencing technology.
Stowers researchers pinpoint the Super Elongation Complex as a major regulator in the coordinated expression of early developmental genes.
Successful gene expression requires the concerted action of a host of regulatory factors. Long overshadowed by bonafide transcription factors, coactivators—the hanger-ons that facilitate transcription by docking onto transcription factors or modifying chromatin—have recently come to the fore.
Scientists at Dana-Farber Cancer Institute have demonstrated that it’s possible – early in a tumor’s growth – to identify cancer genes that endow the tumor with the ability to metastasize. Testing the technique in melanoma skin cancer, they found six abnormal genes that are both cancer-causing and metastasis-promoting.
A genome-wide survey by researchers at The Wistar Institute shows how our cells create alternate versions of mRNA transcripts by altering how they “read” DNA.
Researchers utilize core collections of peanut genetics to solve agricultural problems for farmers around the world.
In a large and comprehensive investigation into the underlying causes of sudden cardiac death (SCD) – a surreptitious killer of hundreds of thousands annually in the United States – researchers have discovered a variation in the genome’s DNA sequence that is linked to a significant increase in a person’s risk of SCD.
Genetic instructions for developing limbs and digits were present in primitive fish millions of years before their descendants first crawled on to land, University of Chicago researchers have discovered. The result suggests that the recipe for limb development is conserved in species separated by 400 million years of evolution.
De novo mutations – genetic errors that are present in patients but not in their parents – are more frequent in schizophrenic patients than in normal individuals.
University of Wisconsin-Madison scientists are part of an international consortium that has successfully sequenced and analyzed the potato genome. The consortium’s work, which is described in the current issue of Nature, turned up more than 39,000 genes and is expected to speed potato research and breeding projects around the globe.
A report from the Conaway lab at the Stowers Institute for Medical Research in the July 8, 2011, edition of the journal Cell identifies a switch that allows RNA polymerase to shift gears from neutral into drive and start transcribing. This work sheds light on a process fundamental to all plant or animal cells and suggests how transcriptional anomalies could give rise to tumors.
When is it appropriate to perform genetic testing for Alzheimer disease (AD), and what information do patients need to understand their risk? The June issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG) presents a new practice guideline on genetic counseling and testing for AD.
After living incognito for millions of years in a remote area of a forested mountain range in the Philippines, seven newfound species of mice owe their recent discovery to DNA evidence and the Florida State University biologist who deciphered it.
Scientists collaborated on rapid sequencing about the origins of the deadly strain of E. coli in Germany.
Binghamton University researcher Christof Grewer thinks he has an important brain transport protein – glutamate transporter – figured out. And he’s using a novel approach to spy on them by taking aim with lasers.
A new U-M study bring us one step closer to developing treatments for issues associated with aging or chronic diseases in which cells lose their ability to maintain a stable pattern of gene expression.
Scientists at the Salk Institute for Biological Studies have found clues to the functioning of an important damage response protein in cells. The protein, p53, can cause cells to stop dividing or even to commit suicide when they show signs of DNA damage, and it is responsible for much of the tissue destruction that follows exposure to ionizing radiation or DNA-damaging drugs such as the ones commonly used for cancer therapy. The new finding shows that a short segment on p53 is needed to fine-tune the protein’s activity in blood-forming stem cells and their progeny after they incur DNA damage.
A study by a global consortium of physician-scientists has identified a genetic variation that may predispose people to double the risk of having a sudden cardiac arrest, a disorder that gives little warning and is fatal in about 95 percent of cases. Although previous, smaller studies have identified some genes with a potential association with sudden cardiac arrest, this is the first study large enough to enable scientists to apply results to the general population.
Scientists at Johns Hopkins have provided more clues to one of the least understood phenomena in some cancers: why the “ends caps” of cellular DNA, called telomeres, lengthen instead of shorten.
Researchers from Huntsman Cancer Institute describe a new approach to organize large amounts of varied genetic data, allowing researchers to create 3-D models revealing previously unknown relationships among different cancer genes.
A University of Iowa study examined people's preferences with respect to whether and how informed consent should be obtained for the collection and use of tissue samples for research. The results will help develop appropriate informed consent protocols for a new comprehensive tissue biobank.
1) Findings represent a critical step in personalizing cancer treatments; 2) Some early aberrations are required for development of later abnormalities.
A team of North Carolina State University researchers has discovered more about how a gene connected to the production of new brain cells in adults does its job. Their findings could pave the way to new therapies for brain injury or disease.
Scientists isolate single protein in potatoes responsible for an unhealthy compound produced when cooking at high temperatures.
Using the latest gene sequencing tools to examine so-called epigenetic influences on the DNA makeup of colon cancer, a Johns Hopkins team says its results suggest cancer treatment might eventually be more tolerable and successful if therapies could focus on helping cancer cells get back to normal in addition to strategies for killing them.
Using an innovative, precise gene therapy tool called genome editing, scientists treated the blood clotting disorder hemophilia in mice. It's the first time in vivo genome editing has achieved clinically meaningful results.
The MInerals, Metals & Materials Society (TMS) has assumed an international leadership role in supporting the development of Materials Genome Initiative introduced by President Barack Obama in his launch of the Advance Manufacturing Partnership (AMP) at Carnegie-Mellon University in Pittsburgh on June 24 and has experts available to provide comment and background on the President’s announcement of the initiative.
In a step toward personalized genomics, a research team has identified the disease-causing mutation in a newly characterized rare genetic disease, by analyzing DNA from just a few individuals.
Scientists practice a method to help discover specific genes that determine fruit traits.
The Association for Molecular Pathology (AMP) gave public comments at the US Food and Drug Administration’s (FDA) meeting on next generation sequencing and called on officials to partner with professional associations as they develop a program to evaluate sequencing based diagnostics.
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