Researchers at the Mayo Clinic campus in Florida have found a clue as to how some people develop a form of dementia that affects the brain areas associated with personality, behavior, and language.
With few exceptions, jumping genes-restless bits of DNA that can move freely about the genome-are forced to stay put. In patients with Rett syndrome, however, a mutation in the MeCP2 gene mobilizes so-called L1 retrotransposons in brain cells, reshuffling their genomes and possibly contributing to the symptoms of the disease when they find their way into active genes, report researchers at the Salk Institute for Biological Studies.
The Genetics Society of America announces the recipients of its five awards for distinguished service in the field of genetics. They are: James E. Haber, Thomas Hunt Morgan Medal; John R. Carlton, Genetics Society of America Medal; Abby F. Dernburg, Edward Novitski Prize; Joseph R. Ecker, George W. Beadle Award; Peter J. Bruns, Elizabeth W. Jones Award for Excellence in Education.
University of Iowa scientists and colleagues at Baylor College of Medicine have developed a test that can screen all of the genes known to cause deafness in a single run. The new test could provide families with useful information more rapidly and at a lower cost than is currently available.
Fisetin, a naturally occurring compound found in strawberries and other fruits and vegetables, slows the onset of motor problems and delays death in three models of Huntington's disease, according to researchers at the Salk Institute for Biological Studies. The study, published in the online edition of Human Molecular Genetics, sets the stage for further investigations into fisetin's neuroprotective properties in Huntington's and other neurodegenerative conditions.
Scientists studying genetic data from nearly 50,000 people have uncovered several DNA sequence variations associated with the electrical impulses that make the heart beat. The findings, reported in Nature Genetics, may pave the way for a greater understanding of the mechanisms for abnormal heart rhythms and sudden cardiac death.
Researchers at the University of North Carolina at Chapel Hill School of Medicine have demonstrated that the gene mutated in cystic fibrosis not only controls traffic on the chloride highway, but also keeps the sodium highway from being overused.
A newly discovered gene which helps to control the sense of pain is linked to synaesthesia, when sensations such as touch also affect other senses like hearing or sight. The rare condition causes some people to see sounds or written words as colours, or experience tastes, smells and shapes in linked combinations. Famous synaesthetes include composers Franz Liszt or Olivier Messiaens, and this condition has been linked to creativity and intelligence.
Scientists have observed, for the first time, an intermediate stage in the chemical process that repairs DNA methylation damage and regulates many important biological functions that impact health conditions such as obesity, cancer and diabetes.
AMP invites the media to attend its upcoming 2010 Annual Meeting and Exhibits and learn about the latest advances in clinical molecular diagnostics. The four-day event will feature more than 100 corporate exhibits, as well as many cutting-edge lectures, workshops and plenary sessions.
Depression appears to be associated with a molecular-level disturbance in the body's 24-hour clock, new research suggests.
Using a blend of brain imaging and genetic detective work, scientists at UCLA’s David Geffen School of Medicine and Semel Institute for Neuroscience and Human Behavior are the first to illustrate how genetic variants rewire the brain. Published in the Nov. 3 online edition of Science Translational Medicine, their discovery offers the crucial missing physical evidence that links altered genes to modified brain function and learning.
An international team of scientists have traced the plague back to its roots in China and paved the way for future bacteria research.
International team of scientists have used DNA fingerprinting analyses to understand multiple global plague disease events.
Ken-ichi Noma, Ph.D., and Wistar researchers determined the three-dimensional structure of the fission yeast genome, S. pombe. The study is the first to combine microscopy with advanced genomic sequencing techniques, enabling researchers to literally see gene interactions. Applying this technique to the human genome may provide both scientists and physicians a whole new framework from which to better understand genes and disease. The study was published online as a featured article in the journal Nucleic Acids Research.
An international study led by researchers at Memorial Sloan-Kettering Cancer Center has identified genetic variants in women with BRCA2 mutations that may increase or decrease their risk of developing breast cancer.
An international team of researchers led by an investigator from Fred Hutchinson Cancer Research Center has made a second critical advance in determining the cause of a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD.
Liberals may owe their political outlook partly to their genetic make-up, according to new research from the University of California, San Diego, and Harvard University. Ideology is affected not just by social factors, but also by a dopamine receptor gene called DRD4. The study’s authors say this is the first research to identify a specific gene that predisposes people to certain political views.
Just seven months after University of Utah geneticists took part in a landmark study that sequenced for the first time the genome of an entire Utah family, U of U researchers have taken part in another historic study that is the first large-scale genome sequencing project – 179 people representing three continents – and 60 Utahns played a major role in this study, too.
If you were dying from cancer, would you consider genetic testing? A recent study conducted by researchers from Virginia Commonwealth University Massey Cancer Center showed that most terminally ill cancer patients who were eligible for genetic testing never received it despite that it could potentially save a relative’s life.
Ever wonder why some people breeze along on four hours of sleep when others can barely function? It may be in our genes, according to new research and an accompanying editorial published in the October 26, 2010, print issue of Neurology®, the medical journal of the American Academy of Neurology.
Four newly discovered DNA “hotspots” may one day help guide new treatments for psoriasis, one of the most common autoimmune diseases in the country, U-M geneticists say.
When cells make the proteins that carry out virtually every function of life, it’s vital that the right things happen at the right times, and — maybe more importantly — that wrong things are stopped from happening at the wrong times.
A new study by pediatric researchers has added to the evidence that genes have a strong influence on childhood obesity. The study team searched the whole genomes of thousands of obese children for copy number variations.
Benjamin Luft, M.D., Professor of Medicine, Stony Brook University Medical Center, and a team of medical researchers have determined the genetic blueprint of 13 strains of the bacteria that cause Lyme disease.
Hopkins, Baylor and Stanford scientists identify a protein folding machine in yeast cells that controls the folding of other important “machines” that power cells, as a target for arsenite, an arsenic compound and common water contaminant.
Two major international studies looking at data from a quarter of a million people around the globe have found a new set of genes associated with body fat distribution and obesity. Researchers at 280 institutions worldwide, including Albert Einstein College of Medicine of Yeshiva University, conducted the studies. The research, published in the October 10 online edition of Nature Genetics, sheds light on the biological processes involved in body fat distribution, possibly leading to new ways of treating obesity.
Researchers have determined the genetic structures of 13 previously unmapped strains of the bacterium that causes Lyme Disease. These findings may accelerate progress toward vaccines and more effective treatments.
A clinical trial designed to replace the genetic defect causing the most common form of muscular dystrophy has uncovered an unexpected aspect of the disease. The trial, based on therapy designed by scientists at the University of North Carolina at Chapel Hill School of Medicine, showed that some patients mount an immune response to the dystrophin protein even before they have received the gene therapy.
An immune reaction to dystrophin, the muscle protein that is defective in patients with Duchenne muscular dystrophy, may pose a new challenge to strengthening muscles of patients with this disease, suggests a new study appearing in the October 7, 2010, issue of The New England Journal of Medicine.
In the October 1 issue of the journal Cell researchers at The Wistar Institute shed new light on the genetic unknown with the discovery of the ability of long non-coding RNA (ncRNA) to promote gene expression. The researchers believe these long ncRNA molecules may represent so-called gene enhancer elements—short regions of DNA that can increase gene transcription. While scientists have known about gene enhancers for decades, there has been no consensus about how these enhancers work.
Researchers at Vanderbilt University, Pennsylvania State University and the University of Pittsburgh have discovered a fundamentally new way that DNA-repair enzymes detect and fix damage to the chemical bases that form the letters in the genetic code.
A multi-institutional team led by investigators from Memorial Sloan-Kettering Cancer Center has published a study that provides new insight into genetic changes that make some forms of glioblastoma, the most common type of primary brain cancer, more aggressive than others and explains why they may not respond to certain therapies.
As part of McGill’s “RaDiCAL” project (Rare Disease Consortium for Autosomal Loci), collaborators in Qatar conducted field research with three patients from biologically interrelated Bedouin families, and sent samples to Canada for analysis by GA JOE – a high-tech genome analyzing machine.
An international team of researchers, including a number from the University of North Carolina at Chapel Hill schools of medicine and public health, have discovered hundreds of genes that influence human height. Their findings confirm that the combination of a large number of genes in any given individual, rather than a simple “tall” gene or “short” gene, helps to determine a person’s stature. It also points the way to future studies exploring how these genes combine into biological pathways to impact human growth.
A seemingly simple inherited trait – height – springs from hundreds of genetic causes, according to an international team of scientists. The study identified hundreds of gene variants in at least 180 locations that influence adult height.
A research team led by Mount Sinai School of Medicine has identified the mechanism behind a single gene linked to the causes of both Alzheimer’s disease and Type 2 diabetes. The data show that a gene for a protein called SorCS1, which can cause Type 2 diabetes, impacts the accumulation of amyloid-beta (Abeta) in the brain. Abeta plays a key role in the development of Alzheimer’s disease.
Monell Center scientists have identified one of only a few known genetic contributions to the sense of smell. Most, but not all, people detect a distinct sulfurous odor in their urine after eating asparagus. Sensory testing demonstrated that some do not produce the odor while others do not smell it. DNA analyses revealed that the inability to smell the odor was linked to genetic variation within a family of olfactory receptors.
Research by Yale scientists, published in the journal GENETICS, identifies pieces of control DNA that turn on or off genes that allow fruit flies to differentiate between smells, paving the way for better insect repellents.
The study, which was part of the Johnston County Osteoarthritis Project, showed patients with X-ray evidence of knee osteoarthritis who inherited a specific pattern of genetic variations in the interleukin-1 receptor antagonist (IL-1Ra) gene were almost twice as likely to progress to severe disease as other patients.
Researchers at Huntsman Cancer Institute at the University of Utah demonstrate in a study featured today in Cell the mechanism by which mutation of the APC gene affects a cellular process known as DNA methylation.
Individuals with disrupting mutations in the BRCA1 gene are known to be at substantially increased risk of breast cancer throughout their lives.
International study locates key genetic variations.
University of Michigan scientists have identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago.
A first draft of the cacao genome is complete, a consortium of academic, governmental, and industry scientists announced today. Indiana University Bloomington scientists performed much of the sequencing work, which is described and detailed at http://www.cacaogenomedb.org/, the official website of the Cacao Genome Database project.
An international team of researchers has identified a risk gene for schizophrenia, including a potentially causative mutation, using genome-wide association data-mining techniques and independent replications.
Scientists at the Johns Hopkins Kimmel Cancer Center have identified two genes whose mutations appear to be linked to ovarian clear cell carcinoma, one of the most aggressive forms of ovarian cancer. Clear cell carcinoma is generally resistant to standard therapy.
Researchers from the Johns Hopkins Bloomberg School of Public Health have developed new software that greatly improves the speed at which scientists can analyze RNA sequencing data. The software, known as Myrna, uses “cloud computing,” an Internet-based method of sharing computer resources. Faster, cost-effective analysis of gene expression could be a valuable tool in understanding the genetic causes of disease.
Scientific research published in the current issue of the Journal of the American Medical Informatics Association (JAMIA) reports on a study of genetic variants that influence human susceptibility to peripheral arterial disease (PAD), made possible by leveraging electronic medical records (EMRs
One-half of people using direct-to-consumer (DTC) personal genetic risk tests express concerns about testing—yet more than 80 percent want to know their risk even for non-preventable genetic diseases, according to a study in the September Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG).
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