An international panel of experts from The Heart Rhythm Society and the European Heart Rhythm Association issued new guideline recommendations for all health care professionals about cardiovascular genetic testing at the Heart Rhythm Society’s 32nd Annual Scientific Sessions.
Scientists at Albert Einstein College of Medicine of Yeshiva University have identified the Aurora A gene - which is vital for tumor growth and known to be expressed at higher-than-normal levels in many cancers – as a target for potential therapies for rhabdoid tumors, aggressive childhood cancers that usually strike children under three years old and affect the brain or kidneys. The disease is extremely rare and is particularly difficult to treat and almost always fatal.
A study by researchers in Austria and the US finds evidence that the different cell types that make up organs have arisen only once during the course of evolution. The programs to develop these cells have been passed on ever since. The study which is published online by Nature Genetics has been supported by the GEN-AU Programme of the Austrian Ministry for Science and Research.
Mayo Clinic researchers have discovered two mutations responsible for a devastating neurological condition they first identified 15 years ago.
A study shows promise in slowing age-related macular degeneration (AMD). Tufts researchers demonstrate for the first time that a gene therapy approach to deliver CD59, an inhibitor of complement, can significantly reduce uncontrolled blood vessel growth and cell death that is typical in AMD, the most common cause of blindness in the elderly.
A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted by Nationwide Children’s Hospital and appearing in the journal Birth Defects Research Part A.
Scientists have reviewed state-of-the-art association mapping of maize, and the factors that will allow for the maximum impact of this new tool in gene discovery studies and practical maize improvement programs.
An international team of scientists, led by researchers at the University of California, San Diego School of Medicine, have developed a new method for discerning the functions of previously uncharacterized genes and placing them in interactive, functional networks that reveal how gene products interact to bring about cellular events.
Take millions of puzzle pieces containing partial words and create full words, sentences, paragraphs and chapters until a book is rebuilt. That process is like sequencing a genome, says a University of Oregon biologist who has published a proof-of-principle paper on a patent-pending technology.
Transplanting cells from healthy adult livers may work in treating a genetic liver-lung disorder that affects millions of people worldwide, according to an animal study in the April 18 online edition of the Journal of Clinical Investigation. Jayanta Roy-Chowdhury, M.D., professor of medicine and of genetics at Albert Einstein College of Medicine of Yeshiva University, is the study’s senior author.
Researchers at Albert Einstein College of Medicine of Yeshiva University have for the first time observed the activity of a single gene in living cells. In an unprecedented study, published in the April 22 online edition of Science, Einstein scientists were able to follow, in real time, the process of gene transcription, which occurs when a gene converts its DNA information into molecules of messenger RNA (mRNA) that go on to make the protein coded by the gene.
Tufts University researchers observed that a genetic variant on the perilipin 4 (PLIN4) locus was associated with an increased risk of obesity yet, carriers with higher omega-3 fatty acid intakes tended to weigh less than carriers who consumed little or no omega-3 fatty acids. Furthermore, the researchers identified a microRNA (miRNA) which may help elucidate the mechanism behind the gene-diet interaction.
Two new studies in the Journal of the American Medical Association highlight the power of sequencing cancer patients’ genomes as a diagnostic tool, helping doctors decide the best course of treatment and researchers identify new cancer susceptibility mutations that can be passed from parent to child.
Healthy people who contribute DNA samples for medical research see their relationship with researchers as sharing a trade secret, rather than participation in traditional medical research, according to a new study.
Using human kidney cells and brain tissue from adult mice, Johns Hopkins scientists have uncovered the sequence of steps that makes normally stable DNA undergo the crucial chemical changes implicated in cancers, psychiatric disorders and neurodegenerative diseases. The process may also be involved in learning and memory, the researchers say.
A new Standard Reference Material (SRM) from the National Institute of Standards and Technology (NIST) will help clinical genetics labs accurately diagnose Huntington’s disease, an inherited degenerative brain disorder that usually begins between ages 35 and 50 and progressively leads to physical impairment, dementia and death.
Cornell molecular biology Professor Charles Aquadro and Spencer Wells, director of National Geographic and IBM’s Genographic Project, will talk about the results of Cornell's Genetic Ancestry Project and the frontiers of human genetic testing in NYC on April 18.
The discovery of two genes that encode copper- and sulfur-binding repressors in the hospital terror Staphylococcus aureus means two new potential avenues for controlling the increasingly drug-resistant bacterium, scientists say in the April 15, 2011 issue of the Journal of Biological Chemistry.
In a research collaboration blind to affairs of politics, ethnicity, and religion, an international team led by Israeli scientists has identified the genetic cause of a neurological disorder afflicting members of a Palestinian family.
A Tufts University research team shows that cell death in yeast can also result from the process by which the cell repairs damage that occurs within a repeated CAG/CTG sequence. Their findings increase understanding of how diseases like Huntington's develop in humans.
A newly sequenced bacterial genome from a team led by the Department of Energy’s Oak Ridge National Laboratory could contain clues as to how microorganisms produce a highly toxic form of mercury.
A gene newly discovered by Eve Wurtele and Ling Li introduced into soybean plants has increased the amount of protein in the plant's seed by 30 to 60 percent. People with protein-starved diets around the world could benefit.
A thematic program will bring together researchers from across the country to discuss recent developments in DNA replication, recombination and repair and the importance of these activities in cancer and gene therapy.
MIT cancer biologists have identified a genetic change that makes lung tumors more likely to spread to other parts of the body. The findings, to be published in the April 6 online issue of Nature, offers new insight into how lung cancers metastasize and could help identify drug targets to combat metastatic tumors, which account for 90 percent of cancer deaths.
With the help of two sets of brothers with autism, Johns Hopkins scientists have identified a gene associated with autism that appears to be linked very specifically to the severity of social interaction deficits. The gene, GRIP1 (glutamate receptor interacting protein 1), is a blueprint for a traffic-directing protein at synapses — those specialized contact points between brain cells across which chemical signals flow.
Researchers are concentrating focus on mouse chromosomes to map hotspots of genetic recombination – sites where DNA breaks and reforms to shuffle genes. Their findings have the potential to improve the detection of genes linked to disease and to help understand the root causes of genetic abnormalities.
Vanderbilt researchers, who helped organize a consortium including the University of Pennsylvania School of Medicine, the University of Miami Miller School of Medicine, and the Boston University School of Medicine, have identified four new genes linked to Alzheimer’s disease. The findings, released today by Nature Genetics, effectively double the number of genes known to contribute to the disease, according to Jonathan Haines, Ph.D., director, Vanderbilt Center for Human Genetics Research.
In the largest study of its kind, researchers from a consortium of 44 universities and research institutions in the United States, including Rush University Medical Center, identified four new genes linked to Alzheimer’s disease. Each gene individually adds to the risk of having this common form of dementia later in life.
Researchers from a consortium that includes Columbia University Medical Center identified four new genes linked to late-onset Alzheimer’s disease, each of which adds to the risk of developing this most common form of the disease. Together they offer a portal into the causes of Alzheimer’s. Their identification will help researchers find ways to determine who is at risk of developing the disease and to identify proteins and pathways for drug development.
A common genetic variation links to both bladder cancer risk and to the length of protective caps found on the ends of chromosomes, scientists at The University of Texas MD Anderson Cancer Center reported today at the AACR 102nd Annual Meeting.
Researchers offer the first evidence that DNA damage can lead to the regulation of inflammatory responses, the body’s reaction to injury. The proteins involved in the regulation help protect the body from infection.
Researchers at Weill Cornell Medical College have shown that it is possible to immunize mammals to control fertility. They say their technique could possibly be used on other mammals -- including humans -- because fertility hormones and their receptors are species-non-specific and are similar in both females and males. For pets, the technique could be an alternative to castration and adverse effects of hormone administration.
Cornell University researchers report they have identified a gene that increases the risk for colon cancer in laboratory mice when the animals’ diets are deficient in folate – offering a likely insight into how such cancers develop in humans.
A study of thousands of people with bipolar disorder suggests that genetic risk factors may influence the decision to attempt suicide.
State laws and policies governing the storage and use of surplus blood samples taken from newborns as part of the routine health screening process range from explicit to non-existent, leaving many parents ill-informed about how their babies’ left over blood might be used, according to a scholar at the Johns Hopkins Berman Institute of Bioethics. A report on the analysis is published March 28 in the journal Pediatrics.
Broad Institute and Dana-Farber scientists have unveiled the most comprehensive picture to date of the full genetic blueprint of multiple myeloma. The study yielded insights into the events that lead to this form of cancer and could influence the direction of research.
By sequencing the genome of a mouse with cancer, researchers at Washington University School of Medicine in St. Louis have uncovered mutations that also drive cancer in humans. The investigators are the first to sequence a mouse cancer genome, and their research is reported online March 23 in the Journal of Clinical Investigation.
A multi-center gene therapy trial for patients with advanced Parkinson’s disease demonstrated reduced symptoms of the progressive movement disorder, according to a new study published in Lancet Neurology.
Calling it the “new periodic table for flies,” researchers at North Carolina State University and collaborators across the globe have mapped the evolutionary history of flies, providing a framework for further comparative studies on the insects that comprise more than 10 percent of all life on Earth.
Five genetic variants in humans – four new – associate with Nonalcoholic Fatty Liver Disease (NAFLD), according to a study published March 10 in PLoS Genetics.
A team of researchers from the United States and Europe has identified a single genetic mutation in the CUBN gene that is associated with albuminuria both with and without diabetes. Albuminuria is a condition caused by the leaking of the protein albumin into the urine, which is an indication of kidney disease.
Ten years ago, scientists seeking to understand how a certain type of feature on a cell called an L-type calcium channel worked created a knockout mouse missing both copies of the CACNA1D gene.
Researchers have created the first mouse models of human MYH9 genetic disorders, which cause several problems -- including enlarged platelets and sometimes fatal kidney disease.
Scientists at the Netherlands’ Center for Genetic Resources have examined the extent of the problem of non-authenticity of old cultivars in genebank collections using a large lettuce collection from a Dutch genebank.
Institute for Genome Sciences led pioneering investigation in new field of microbial forensics.
Amyotrophic lateral sclerosis, known as ALS or Lou Gehrig’s disease, is a notorious neurodegenerative condition characterized by the progressive deterioration of brain and spinal cord neurons, resulting in the gradual but catastrophic loss of muscle control and ultimately, death. In a paper, published in the journal Nature Neuroscience, a team of scientists at the UCSD School of Medicine and colleagues describe the profound and pervasive role of a key protein in ALS pathology called TDP-43.
Vanderbilt-Ingram Cancer Center (VICC) has launched the nation’s first personalized cancer decision support tool, “My Cancer Genome,” to help physicians and researchers track the latest developments in personalized cancer medicine and connect with clinical research trials for their patients. This web-based information tool (www.MyCancerGenome.org) is designed to quickly educate clinicians on the rapidly expanding list of genetic mutations that impact different cancers and, at the same time, enable them to more easily research various treatment options based on specific mutations.
Johns Hopkins scientists have discovered that PARIS — the protein — facilitates the most common form of Parkinson’s disease (PD), which affects about 1 million older Americans. The findings of their study, published March 4 in Cell, could lead to important new targets for treatment.
A unique worldwide collaborative project takes advantage of the Internet to improve the accuracy of screening for rare metabolic disorders in newborns, reports a paper in the March issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.
Ordinary human cells reprogrammed as induced pluripotent stem cells may revolutionize personalized medicine by creating new and diverse therapies unique to individual patients. But important and unanswered questions have persisted about the safety of these cells, in particular whether their genetic material is altered during the reprogramming process. A new study finds that the genetic material of reprogrammed cells may in fact be compromised, and suggests that extensive genetic screening of hiPSCs become standard practice.
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