The power of genome-wide association studies (GWAS) to detect genetic influences on human disease can be substantially increased using a statistical testing framework reported in the May issue of the journal GENETICS.
A team of scientists at the University of California, San Diego School of Medicine and in China describe a new benchtop semiconductor sequencing procedure and newly developed bioinformatics software tools that are fast, accurate, portable, less expensive and can be completed without harm to mother or fetus.
Researchers have discovered that the protein BiP plays a key role in a genetic mutation that is affiliated with early onset torsion dystonia. Their findings may lead to the first universal treatment for the neurological disorder, which affects nearly half a million Americans.
Researchers at the University of California, San Diego School of Medicine have discovered a genetic risk factor for premature birth. The risk factor is related to a gene that codes for a protein that the scientists have found helps the body’s immune cells recognize and fight Group B Streptococcus (GBS) bacteria.
In November 2013, the U.S. Food and Drug Administration (FDA) ordered the company 23andMe to stop offering its direct-to-consumer DNA testing service, which provided individuals with $99 assessments of their genetic risk for almost 200 disorders. A thought-stimulating opinion piece published in Clinical Chemistry, the journal of AACC, now examines whether this move by FDA is a violation of the First Amendment, or a necessary step to protect consumers.
In the largest family study on autism spectrum disorder (ASD) to date, researchers from the Icahn School of Medicine at Mount Sinai, along with a research team from the Karolinska Institutet in Stockholm Sweden and King’s College in London found that individual risk of ASD and autistic disorder increased with greater genetic relatedness in families – that is, persons with a sibling, half-sibling or cousin diagnosed with autism have an increased likelihood of developing ASD themselves. Furthermore, the research findings showed that “environmental” factors unique to the individual (birth complications, maternal infections, etc.) were more of a determinant for ASD than previously believed.
In two separate studies, vision scientists have developed healthy genes to prevent blinding diseases that stem from genetic defects. The research is being presented at the 2014 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) this week in Orlando, Fla
A new study by researchers at the University of California, San Diego School of Medicine, with colleagues in Norway, significantly refines the association, highlighting genetic risk factors associated with low density lipoprotein (LDL) cholesterol and triglycerides as key players and identifying 17 related gene loci that make risk contributions to levels of these blood lipids and to prostate cancer.
To solve a puzzle, you need to recognize shapes, patterns and a particular kind of order. In much the same way, researchers at McGill University have discovered that the 3D shape of a leukemia cell’s genome holds a key to solving the puzzle of human diseases. The researchers report their findings in the open access journal Genome Biology.
Biogeographical data is useful in screening for disease risk and drug sensitivity associated with certain ethnic groups. A team of researchers, including an investigator from Children’s Hospital Los Angeles, has developed a tool to accurately identify the biogeography of worldwide individuals.
Many African-American children do not get the recommended amount of calcium in their diet. A new study shows African American children with a genetic predisposition to diabetes may mitigate their risk by getting more calcium.
Investigators at Beth Israel Deaconess Medical Center report a new mechanism by which BRCA gene loss may accelerate cancer-promoting chromosome rearrangements.
Mayo Clinic researchers have uncovered a novel tumor suppressive role for p53, a cancer-critical gene that is mutated in more than half of all cancers found in humans.
Scientists at Icahn School of Medicine at Mount Sinai, along with collaborators at institutions in India, Italy, and Japan, have identified the first gene linked to childhood-onset familial dilated cardiomyopathy (DCM), one of the most common heart muscle diseases in children. It is a progressive and potentially fatal heart condition resulting from an enlarged and weakened heart muscle.
By studying the reproductive cells of nematodes – tiny worms found in soil and compost bins – Shawn Ahmed, PhD, an associate professor of genetics, identified the Piwi/piRNA genome silencing pathway, the loss of which results in infertility after many generations. He also found a signaling pathway – a series of molecular interactions inside cells – that he could tweak to overcome infertility while also causing the worms to live longer adult lives.
Scientists have known that abnormal brain growth is associated with autism spectrum disorder. However, the relationship between the two has not been well understood.
There’s a civil war going on inside every one of the 37 trillion cells in your body. Now, scientists have uncovered how your cells keep this war from causing too much collateral damage.
A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world.
Although our chromosomes are relatively stable within our lifetimes, the genetic material found in our mitochondria is highly variable across individuals and may impact upon human health, say researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital.
Ever since it was first identified more than 15 years ago, the PTEN gene has been known to play a key role in preventing the onset and progression of numerous cancers. New research from Beth Israel Deaconess Medical Center helps explain how.
A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.
Newswise is offering reporters a behind-the-scenes look at the state of the research and the impact it might have on global public health by interacting with two leading scientists in the field and an author who has investigated the research for over a decade. With all the elements of a great story, the search for healthful human longevity sheds light on discoveries that could fundamentally reshape human life.
A new book from bioethicists at Johns Hopkins and Columbia Universities uses dramatic narratives as an accessible gateway to the complex ethical issues of integrating genomics and healthcare.
The human Y chromosome has over the course of millions of years of evolution has preserved a small set of genes that has ensured not only its own survival but also the survival of men. Moreover, the vast majority of these tenacious genes appear to have little if any role in sex determination or sperm production. Taken together, these remarkable findings suggest that because these Y-linked genes are active across the body, they may actually be contributing to differences in disease susceptibility and severity observed between men and women.
A team of scientists led by a researcher from the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore has identified the cancer specific stem cell which causes gastric cancer. This discovery opens up the possibility of developing new drugs for the treatment of this disease and other types of cancers.
Over 15 mammalian clock proteins have been identified, but researchers surmise there are more. Could big-data approaches help find them? To accelerate clock-gene discovery, the investigators used a computer-assisted approach to identify and rank candidate clock components, which they liken to online Netflix-like profiling of movie suggestions for customers. This approach found a new core clock gene, which the team named CHRONO.
A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases
Did domesticating a plant typically take a few hundred or many thousands of years? Genetic studies often indicate that domestication traits have a fairly simple genetic basis, which should facilitate their rapid evolution under selection. On the other hand, recent archeological studies of crop domestication have suggested a relatively slow spread and fixation of domestication traits. An article in “The Modern View of Domestication,” a special issue of PNAS, tries to resolve the discrepancy.
Researchers from MIT’s Koch Institute, the Broad Institute, and the Dana-Farber Cancer Institute come together to overcome the barriers to sequencing circulating tumor cells.
– Researchers may have identified key genes linked to why some people have a higher tolerance for pain than others, according to a study released today that will be presented at the American Academy of Neurology’s 66th Annual Meeting in Philadelphia, April 26 to May 3, 2014.
Most drugs used to treat lung, breast and pancreatic cancers also promote drug-resistance and ultimately spur tumor growth. Researchers at the University of California, San Diego School of Medicine have discovered a biomarker called CD61 on the surface of drug-resistant tumors that appears responsible for inducing tumor metastasis by enhancing the stem cell-like properties of cancer cells.
Friday, April 25, is National DNA Day, the date which commemorates completion of the Human Genome Project, the national effort to identify and decode all 6 billion letters in human DNA. Since that time, medical researchers and practitioners have found new ways to apply genomics for everyone who needs healing, and thanks to staggering technological advancements and next-generation sequencing, the cost to sequence a patient’s genome has decreased from $3 billion for the first human genome in 2003 to approximately $1,500.
Spinal and bulbar muscular atrophy (SBMA) is a rare inherited neuromuscular disorder characterized by slowly progressive muscle weakness and atrophy. In a new study published in the April 16, 2014 online issue of Neuron, a team of scientists at the University of California, San Diego School of Medicine say novel mouse studies indicate that mutant protein levels in muscle cells are fundamentally involved in SBMA, suggesting an alternative and promising new avenue of treatment.
In a new study, researchers from North Carolina State University, UNC-Chapel Hill and other institutions have taken the first steps toward creating a roadmap that may help scientists narrow down the genetic cause of numerous diseases.
Newswise hosts the first live, interactive virtual event for major research finding for journalists. Newswise and Wake Forest Baptist Medical Center are collaborating to offer direct access to the investigator via Newswise Live, an interactive virtual event.
A team of researchers from the University of California, San Diego School of Medicine and the Center for Cancer Systems Biology (CCSB) at the Dana-Farber Cancer Institute has uncovered a new aspect of autism, revealing that proteins involved in autism interact with many more partners than previously known.
In the April 15, 2014 issue of the online journal eLife, Stowers Institute for Medical Research Investigator Alejandro Sánchez Alvarado and colleagues report the identification of genes that worms use to rebuild an amputated pharynx.
The push and pull of physical force can cause profound changes in the behavior of a cell. Two studies from researchers working at the UNC Lineberger Comprehensive Cancer Center reveal how cells respond to mechanical manipulation
Technical objections to the idea that Neandertals interbred with the ancestors of Eurasians have been overcome, thanks to a genome analysis method described in the April 2014 issue of the journal GENETICS (http://www.genetics.org). The technique can more confidently detect the genetic signatures of interbreeding than previous approaches and will be useful for evolutionary studies of other ancient or rare DNA samples.
Genetic variants associated with enjoying the effects of d-amphetamine—the active ingredient in Adderall—are also associated with a reduced risk for developing schizophrenia and attention deficit hyperactivity disorder (ADHD), report scientists from the University of Chicago .
From time to time, living cells will accidentally make an extra copy of a gene during the normal replication process. Throughout the history of life, evolution has molded some of these seemingly superfluous genes into a source of genetic novelty, adaptation and diversity. A new study shows one way that some duplicate genes could have long-ago escaped elimination from the genome, leading to the genetic innovation seen in modern life.
A team of City of Hope researchers, lead by Yani Lu, Ph.D., found that a parent’s age at birth, particularly a father’s age, may affect the adult-onset cancer risk for daughters — especially for breast cancer.
The St. Jude Children’s Research Hospital-Washington University Pediatric Cancer Genome Project has identified new mutations in pediatric brain tumors known as high-grade gliomas (HGGs), which most often occur in the youngest patients. The research appears today as an advance online publication in the scientific journal Nature Genetics.
Research from Rutgers Cancer Institute of New Jersey shows that the RUNX2 protein, which regulates the transcription of genetic messages responsible for the different functions of cells, may play a role in melanoma cell growth and spread and could serve as a therapeutic target for the disease.
The St. Jude Children’s Research Hospital—Washington University Pediatric Cancer Genome Project found mutations in the tumor suppressor gene TP53 in 90 percent of osteosarcomas, suggesting the alteration plays a key role early in development of the bone cancer. The research was published today online ahead of print in the journal Cell Reports.
Overreliance on genetic-centered approaches in predicting, diagnosing and treating disease will lead to few future scientific breakthroughs, cautioned a researcher who co-authored an article advocating for a greater emphasis on the body’s metabolites in understanding illnesses.