Researchers studying rare genetic disorders have uncovered insights into those diseases in biological structures that regulate chromosomes when cells divide.
The St. Jude Children's Research Hospital – Washington University Pediatric Cancer Genome Project today announced the largest-ever release of comprehensive human cancer genome data for free access by the global scientific community.
UCLA geneticists have identified the mutation responsible for IMAGe syndrome, a rare disorder that stunts infants’ growth. The twist? The mutation occurs on the same gene for a disease that makes cells grow too fast, leading to extra-large children.
Researchers at Albert Einstein College of Medicine and Ferkauf Graduate School of Psychology of Yeshiva University have found that personality traits like being extroverted, enjoying laughter and staying engaged may also be part of the longevity genes mix that allows some people to reach age 100 and beyond. The findings published online May 21 in the journal Aging.
Iowa State University researchers are using nanoparticles originally developed by the late Victor Lin to simultaneously deliver proteins and DNA into plant cells. The technology could allow more sophisticated and targeted editing of plant genomes.
Researchers at NYU School of Medicine have, for the first time, identified a single gene that simultaneously controls inflammation, accelerated aging and cancer.
The Association for Molecular Pathology (AMP) today announced that it is close to finalizing a framework proposal for CPT coding of Next Generation Sequencing (NGS) assays.
Clinicians and researchers gathered at Ohio State’s Center for Clinical and Translational Science (CCTS) Third Annual Scientific Meeting to showcase how they are deciphering the Human Genome Projects code using genomics, proteomics, metabolomics and other ‘omics’ to make predictive, preventative and precision medicine a reality in the 21st century.
An inexpensive “orphan drug” used to treat sleep disorders appears to be a potent inhibitor of cancer cells, according to a new study led by scientists at Fred Hutchinson Cancer Research Center. Their novel approach, using groundbreaking technology that allows rapid analysis of the genome, has broad implications for the development of safer, more-effective cancer therapies.
A collaborative expedition into the deep genetics of prostate cancer has uncovered a distinct subtype of the disease, one that appears to account for up to 15 percent of all cases, say researchers at Weill Cornell Medical College, the Broad Institute of MIT and Harvard and the Dana-Farber Cancer Institute.
A multi-institutional research team has used a new technique to map 5-methylcytosine and 5-hydroxymethylcytosine in DNA from human and mouse embryonic stem cells, revealing new information about their patterns of distribution. These DNA modifications play major roles in fundamental life processes.
Over the past decade, research in the field of epigenetics has revealed that chemically modified bases are abundant components of the human genome and has forced us to abandon the notion we've had since high school genetics that DNA consists of only four bases.
An international consortium of researchers, including Boston University Assistant Professor of Biology Sean Mullen, has discovered promiscuous sharing of large regions of DNA code among species by sequencing the genome of a South American butterfly.
Researchers at Washington University School of Medicine in St. Louis have developed a genetic test that can accurately predict whether the most common form of eye cancer will spread to other parts of the body, particularly the liver. The test successfully classified tumors more than 97 percent of the time.
New research findings show that embryonic stem cells unable to fully compact the DNA inside them cannot complete their primary task: differentiation into specific cell types that give rise to the various types of tissues and structures in the body.
Patients see potential benefits from direct-to-consumer genetic testing, but are also concerned about how test results will be used, and generally are unwilling to pay more than $10 or $20 for them.
Melanoma - the deadliest and most aggressive form of skin cancer - has long been linked to time spent in the sun. Now a team led by scientists from the Broad Institute and Dana-Farber Cancer Institute has sequenced the whole genomes of 25 metastatic melanoma tumors, confirming the role of chronic sun exposure and revealing new genetic changes important in tumor formation.
C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969.
By comparing the testosterone levels of five-month old pairs of twins, both identical and non-identical, University of Montreal researchers were able to establish that testosterone levels in infancy are not inherited genetically but rather determined by environmental factors.
Researchers from the University of Adelaide are hoping to better understand why the mutated genes for breast and ovarian cancer are not passed on more frequently from one generation of women to the next.
Scientists at the Research Institute of Molecular Pathology in Vienna discover and elucidate the function of conserved cell division proteins in yeast.
Women who smoke and carry specific variations in the genes that impact their metabolism are at higher risk of developing hot flashes in comparison with smokers who do not carry these gene variants, according to a recent study accepted for publication in The Endocrine Society’s Journal of Clinical Endocrinology and Metabolism (JCEM).
When you buy a racehorse, you pays your money and you takes your chances. Top yearlings at Keeneland’s 2011 Thoroughbred auction, for instance, averaged nearly $350,000 and hadn’t yet raced a step. Odds are that some of them never will. Now, thanks to a Binghamton University biologist, it’s possible to boost the odds of getting a winner with a simple genetic test.
Whitehead Institute researchers have created a three-step algorithm, lobSTR, that in one day accurately and simultaneously profiles more than 100,000 short tandem repeats (STRs) in one human genome sequence—a feat that previous systems could never complete.
NYU biologists have discovered new mechanisms that control how proteins are expressed in different regions of embryos, while also shedding additional insight into how physical traits are arranged in body plans. Their findings call for reconsideration of a decades-old biological theory.
A single gene that promotes initial development of the most common form of lung cancer and its lethal metastases has been identified by researchers at Mayo Clinic in Florida.
Researchers at Oak Ridge National Laboratory and Yale University have developed a new concept for use in a high-speed genomic sequencing device that may have the potential to substantially drive down costs.
St. Jude Children’s Research Hospital scientists have rewritten the job description of the protein TopBP1 after demonstrating that it guards early brain cells from DNA damage. Such damage might foreshadow later problems, including cancer.
Researchers at Johns Hopkins have identified a gene that modifies the risk of newborns with cystic fibrosis (CF) developing neonatal intestinal obstruction, a potentially lethal complication of CF. Their findings, which appeared online March 15 in PlosGenetics, along with the findings of their Toronto-based colleagues, published April 1 in Nature Genetics, may lead to a better understanding of how the intestines work and pave the way for identifying genes involved in secondary complications of other disorders.
Scientists led by Washington University School of Medicine in St. Louis have identified the first gene directly linked to the most common form of psoriasis, a chronic skin condition.
A global team has mapped the human genes that boost or sabotage the brain’s resistance to a variety of mental illnesses and Alzheimer’s disease. The UCLA-launched study also uncovered new genes that explain individual differences in brain size and intelligence
Through a groundbreaking new gene sequencing technology, researchers have demonstrated that the gene FLT3 is a valid therapeutic target in Acute Myeloid Leukemia, AML, one of the most common types of leukemia.
The technique, developed by Pacific Biosciences, allows for the rapid and comprehensive detection of gene mutations in patients with AML. The findings, published online April 15 in Nature, are a result of collaboration among scientists at the University of California, San Francisco, Pacific Biosciences and Mount Sinai School of Medicine. The discovery may help lead to the development of new drugs to treat AML.
The key to treating one of the most common types of human leukemia may lie within mutations in a gene called FLT3, according to new research led by physician-scientists at the University of California, San Francisco (UCSF) Helen Diller Family Comprehensive Cancer Center.
An international consortium of researchers have identified a group of genes associated with the development of osteoporosis, a debilitating bone disease that cripples more than 10 million Americans a year and costs the U.S. healthcare system an estimated $17 billion annually. The study identified 56 genes associated with bone-mineral density (BMD), the measurement used to diagnose osteoporosis.
One of the ultimate ways of understanding what impact any particular gene has in human health or disease is to disrupt it—knocking it down or wiping it out in a worm, fly or mouse and gauging what happens next.
A UNC-led team of scientists finds that transcription factors don’t act like an ‘on-off’ switch, but instead can exhibit much more complex binding behavior.
Research by psychologists at the University at Buffalo and the University of California, Irvine, has found that at least part of the reason some people are kind and generous is because their genes nudge them toward it.
While exercise is accepted universally as the most beneficial prescription physicians can write, little is known about the molecular mechanisms that generate its widespread health benefits. Case Western Reserve has shed light on this mystery by discovering that a genetic factor, KLF15, governs the body’s ability to burn fat during exercise.
Research published in the Genetics Society of America’s journal GENETICS uses a new technique, surrogate organism genetics that “swapped” yeast genes with human genes sequenced from patients with homocystinuria to determine the gene variants likely to respond to vitamin B6 treatment.
Genetics researchers have identified at least two new gene variants that increase the risk of common childhood obesity. The meta-analysis is the largest-ever genome-wide study of the common condition.
Researchers from Mount Sinai School of Medicine have developed a method to derive enough DNA information from non-DNA sources—such as RNA—to clearly identify individuals whose biological data are stored in massive research repositories. The approach may raise questions regarding the ability to protect individual identity when high-dimensional data are collected for research purposes. A paper introducing the technique appears in the April 8 online edition of Nature Genetics.
The discovery of a major gear in the biological clock that tells the body when to sleep and metabolize food may lead to new drugs to treat sleep problems and metabolic disorders, including diabetes.
Mutations in three new genes have been linked to autism, according to new studies including one with investigators at Mount Sinai School of Medicine. The findings, in a trio of papers revealing new genetic targets in autism, are published in the April 4th online issue of the journal Nature. The studies provide new insights into important genetic changes and the many biological pathways that lead to autism spectrum disorders (ASD).
Mutations in hundreds of genes involved in wiring the brain may contribute to the development of autism spectrum disorders (ASD).
That is one of the rather daunting conclusions of a paper published in the current issue of the journal Nature by a multi-institutional team that included researchers at Vanderbilt University Medical Center.
With sharp declines in the cost of whole genome sequencing, the day of accurately deciphering disease risk based on an individual’s genome may seem at hand. But a study involving data of thousands of identical twins by Johns Hopkins investigators finds that genomic fortune-telling fails to provide informative guidance to most people about their risk for most common diseases, and warns against complacency born of negative genome test results.