Feature Channels: Genetics

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Individuals with disrupting mutations in the BRCA1 gene are known to be at substantially increased risk of breast cancer throughout their lives.

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International study locates key genetic variations.

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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.

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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.

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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.

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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.

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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.

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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

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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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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”).

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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.

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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.

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Genetic diversity in lima beans is sharply reduced from wild populations

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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.

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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.

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Harvard-based startup granted exclusive worldwide license to scalable, low cost, emulsion based DNA Sequencing methodologies.

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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.

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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.

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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.

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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.”

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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.

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A new technique works at a very small scale to sequence DNA quickly and relatively inexpensively.

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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.