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).
Lung cancer researchers have identified a genetic signature that can help doctors determine which patients with early-stage non-small cell lung cancer are at high risk for developing disease recurrence and therefore may benefit from chemotherapy after surgery (“adjuvant chemotherapy”).
Women who have gene mutations that put them at high risk of ovarian and breast cancer can significantly reduce the risk of developing or dying from these cancers by having their healthy ovaries or breasts removed.
It now appears that the malaria mosquito needs more than one family of odor sensors to sniff out its human prey. That is the implication of new research into the mosquito’s sense of smell published in the Aug. 31 issue of the online, open-access journal Public Library of Science Biology.
Genetic diversity in lima beans is sharply reduced from wild populations
A hunt throughout the human genome for variants associated with common, late-onset Parkinson’s disease has revealed a new genetic link that implicates the immune system and offers new targets for drug development.
Scientists have sequenced the entire genome of an ant, actually two very different species of ant, and the insights gleaned are already yielding tantalizing clues to the extraordinary social behavior of ants.
Harvard-based startup granted exclusive worldwide license to scalable, low cost, emulsion based DNA Sequencing methodologies.
UCLA researchers have found that a variation in a gene on the sex chromosome X may enhance an immune response that leads to lupus in men.
Researchers at the University of North Carolina at Chapel Hill School of Medicine have uncovered the genetic architecture controlling the growth of the collateral circulation – the “back-up” blood vessels that can provide oxygen to starved tissues in the event of a heart attack or stroke.
An international team of researchers that includes investigators from Fred Hutchinson Cancer Research Center has made a critical advance in determining the cause of a common form of muscular dystrophy known as facioscapulohumeral dystrophy, or FSHD.
In a perspective in the New England Journal of Medicine, UNC medical geneticist James P. Evans, MD, PhD and co-authors write that medical professionals “must ensure that rapidly evolving and multiplying genomic technologies are responsibly harnessed and that their promise is not oversold to the public.”
The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. The DNA loop structure is essential for regulating the activity of cell-type-specific genes and thus maintaining cell state.
A new technique works at a very small scale to sequence DNA quickly and relatively inexpensively.
An opinion piece by a legal scholar from the Johns Hopkins Berman Institute of Bioethics in this week’s issue of Nature calls for the Food and Drug Administration to regulate all health-related genetic tests — whether available directly to consumers or through a health care provider — using an approach that imposes requirements proportionate to a test’s level of risk.
Building on a tool that they developed in yeast four years ago, researchers at the Johns Hopkins University School of Medicine scanned the human genome and discovered what they believe is the reason people have such a variety of physical traits and disease risks.
In one of the first efforts of its kind, UCLA researchers have taken mammalian genome maps, including human maps, one step further by showing not just the order in which genes fall in the genome but which genes actually interact. The findings will help researchers better understand which genes work together and shed light on how they collaborate to help cells thrive or die.
South Dakota State University livestock research is trying to determine whether the genes cattle inherit help determine the way they respond to vaccinations.
Do-it-yourself home genetics test, which are relatively new and available online, are often not comprehensive and may cause unnecessary stress, warns Suzanne Mahon, DNSc., a clinical professor of hematology and oncology at Saint Louis University.
A new study shows a gene variant may increase the severity of multiple sclerosis (MS) symptoms. The research will be published in the August 3, 2010, issue of Neurology®, the medical journal of the American Academy of Neurology.
Scientists from the Monell Center and collaborators report that individual differences in how people experience quinine’s bitterness are related to underlying differences in their genes.
Like a scout that runs ahead to spot signs of damage or danger, a protein in yeast safeguards the yeast cells' genome during replication -- a process vulnerable to errors when DNA is copied -- according to new Cornell research.
Pediatric researchers have discovered a new biological pathway in which small segments of RNA, called microRNA, help protect red blood cells from injury caused by chemicals called free radicals.
Researchers have discovered an enzyme crucial to a type of DNA repair that also causes resistance to a class of cancer drugs most commonly used against ovarian cancer.
A pediatric research team continues to discover recurrent translocations—places in which two chromosomes exchange pieces of themselves, and can lead to genetic disease and disability.
Research published in the journal GENETICS suggests that genetic interaction with diet primarily determines variations in metabolic traits such as body weight, as opposed to diet alone.
Women with higher risk scores that consisted of having certain genetic variants most strongly linked to breast cancer had an associated higher risk of breast cancer, with these scores also highly predictive of estrogen receptor-positive disease, according to a study in the July 28 issue of JAMA.
A new study finds that African ancestry is linked to triple-negative breast cancer, a more aggressive type of cancer that has fewer treatment options.
The Association for Molecular Pathology (AMP) participated in the Food and Drug Administration (FDA) Center for Devices and Radiological Health (CDRH) public meeting on the oversight of laboratory developed tests (LDTs). Dr. Karen Mann, President of AMP, served on the second panel of the meeting titled, Clinical Laboratory Challenges. Additionally, Dr. Elaine Lyon, Chair of the AMP Professional Relations Committee, presented public comments.
The latest C.S. Mott Children's Hospital National Poll reveals that most parents are interested in at-home personal genetic testing for their kids. However, personal genetic testing of children creates medical, ethical and legal challenges that go beyond the current discussion about the regulation of these tests.
Down syndrome is a well known cause of mental retardation and other medical problems, including early onset of Alzheimer disease. It has long been known that Down syndrome is associated with an individual having an additional copy of chromosome 21. Research findings reported in the July 18 advanced online publication of Nature Neuroscience have narrowed down the critical genetic elements responsible for some aspects of Down syndrome.
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, has discovered the gene mutation responsible for a condition in which eye and brain development is severely disrupted in affected infants. They also suggest a potential remedy that would involve a simple, daily dietary supplement.
There's adequate research data to support population screening of women of childbearing age for fragile X syndrome—the most common inherited cause of cognitive impairment, according to a report in the July issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.
A landmark study by Florida State University biologists, in collaboration with scientists in Britain, is the first to identify a life-or-death “cell competition” process in mammalian tissue that suppresses cancer by causing cancerous cells to kill themselves.
In the largest study of its kind, researchers at the Southwest Foundation for Biomedical Research (SFBR) have found that exposure to cigarette smoke can alter gene expression -- the process by which a gene's information is converted into the structures and functions of a cell. These alterations in response to smoking appear to have a wide-ranging negative influence on the immune system, and a strong involvement in processes related to cancer, cell death and metabolism.
A genetic variant implicated in several cancers by genome-wide association studies (GWAS) has been found to drive increased expression of a known oncogene in the prostate.
University of Michigan researchers identified a gene mutation that causes auditory neuropathy. The discovery was made using a combination of genomic approaches.
By inspecting the sequence of all 3 billion “letters” that make up the genome of a single person affected with a rare, inherited disorder, a Johns Hopkins and Duke University team ferreted out the single genetic mutation that accounts for the disease.
Geisinger researchers are part of an international team that has identified a genetic variant more common in individuals with abdominal aortic aneurysms (AAA). This is one of the largest studies ever into the genetics of AAA.
Report documents the status of cotton seed collections across eight countries.
It has been a basic principle of evolution for more than a century that plants and animals can adapt genetically in ways that help them better survive and reproduce. Now, in a paper to be published in the journal Science, University of Rochester biologist John Jaenike and colleagues document a clear example of a new mechanism for evolution.
Researchers from Mount Sinai School of Medicine have identified a previously unknown mechanism by which cells direct gene expression, the process by which information from a gene is used to direct the physical and behavioral development of individuals.
Scientists have designed a nanoparticle that appears to effectively deliver genetic material into cells with minimal toxic effects.
Don’t put down the red wine and vitamins just yet, but if you’re taking antioxidants because you hope to live longer, consider this: a new study published in the June 2010 issue of the journal GENETICS casts doubt on the theory that oxidative stress to our tissues shortens lifespan. That’s because researchers from McGill University in Canada have identified mutations in 10 different genes of worms (genes believed to have counterparts in humans) that extend their lifespan without reducing the level of oxidative stress the worms suffer. The results contradict the popular theory that production of toxic reactive oxygen species in tissues is responsible for aging.
Tufts Assistant Professor of Biology Mitch McVey and his research team report that DNA polymerase theta, or PolQ, promotes an inaccurate repair process for double-strand breaks, which can ultimately cause mutations, cell death or cancer. Findings have potential to advance development of new cancer drugs.
With more than 100 billion neurons and billions of other specialized cells, the human brain is a marvel of nature. It is the organ that makes people unique.
Cells from frozen human blood samples can be reprogrammed to an embryonic stem-cell-like state, according to Whitehead Institute researchers. These cells can be multiplied and used to study the genetic and molecular mechanisms of blood disorders and other diseases.
Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.
An international team co-led by scientists from the University of Michigan have discovered 12 more regions on the genome with DNA variants that are associated with increased risk of type 2 diabetes, bringing the number to 38.
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