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.
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.
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.
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.
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.
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.
Self-conscious about your age? Careful where you spit. UCLA geneticists now can use saliva to reveal how old you are. The June 22 advance online edition of the Public Library of Science ONE publishes the findings, which offer a myriad of potential applications. A newly patented test, for example, could offer crime-scene investigators a new forensic tool for identifying a suspect’s age.
A team of U.S. researchers has identified and compared the genetic codes for all known species of yeasts closely related to bakers’ and brewers’ yeast, which lays the foundation for future understanding of mutation and disease, as studies of yeasts often identify key genes and mechanisms of disease.
An international team of scientists led by researchers at the University of California, San Diego School of Medicine have used induced pluripotent stem cells (iPSCs) derived from patients with amyotrophic lateral sclerosis (ALS) to reveal for the first time how reduced levels of a specific protein may play a central role in causing at least one inherited form of the disease.
Johns Hopkins researchers have identified a natural mechanism that might one day be used to block the expression of the mutated gene known to cause Huntington’s disease. Their experiments offer not an immediate cure, but a potential new approach to stopping or even preventing the development of this relentless neurodegenerative disorder.
In an effort to unravel the tangled biology of autism, Johns Hopkins scientists have created a mouse model that mimics a human mutation of a gene known to be associated with autism spectrum disorders.
An international research team, co-led by scientists at Mayo Clinic’s campus in Florida, have discovered three potential susceptibility genes for development of progressive supranuclear palsy (PSP), a rare neurodegenerative disease that causes symptoms similar to those of Parkinson’s disease but is resistant to Parkinson’s medications. Their report is being published online June 19 in Nature Genetics.
Some lung-cancer patients at UT Southwestern Medical Center are responding well to potential new drug therapies targeting genetic mutations. Their participation in a national study is helping to forge new avenues to attack the disease.
Mice exposed to a high concentration of asbestos-contaminated dust, have a higher level of genetic somatic mutations, compared with other regions where asbestos pollution levels are lower. This has been shown in a new study.
Government guidelines published today on the use of dried blood spots collected during mandatory newborn screening underemphasize the importance of getting the public on board with the practice, according to University of Michigan researcher.
Over the past decade, much progress has been made regarding the understanding and promise of personalized medicine. Scientists are just beginning to consider the impact of gene-diet interactions in different populations in regards to disease prevention and treatment.
Researchers at Case Western Reserve University School of Medicine discovered a genetic factor that can regulate obesity-induced inflammation that contributes to chronic diseases. If the factor can be controlled, it may provide treatment for obesity, diabetes, heart disease and cancer.
A dramatically better computer tool for finding the genetic missteps that fuel cancer has been developed by St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project investigators. Researchers are using the new algorithm to help identify the chromosomal rearrangements and DNA insertions or deletions unique to cancer.
The 3rd Annual Consumer Genetics Conference, a yearly forum designed to spark meaningful conversation on the current state of direct-to-consumer genetics and shape the future of the field, will convene June 7 through June 9 at the Hynes Convention Center in Boston, Massachusetts.
Among various genetic mutations for individuals with Lynch syndrome, a hereditary cancer syndrome that carries a high risk of colon cancer and an above-normal risk of other cancers, researchers have identified mutations associated with a lower cancer risk and mutations associated with an increased risk for ovarian and endometrial cancer, according to a study in the June 8 issue of JAMA, a theme issue on cancer.
Genetic analysis of the tumors from patients with advanced melanoma can clue researchers in to how well patients will respond to a therapy that targets the growth-promoting protein called BRAF, a researcher from the Perelman School of Medicine at the University of Pennsylvania will report on Monday, June 6 at the annual meeting of the American Society of Clinical Oncology. Looking outside of the BRAF gene, the researchers found loss of the tumor suppressor gene PTEN also appears to be associated with patient response to GSK436, which could help guide researchers to even more personalized approaches to melanoma therapy.