Feature Channels: Genetics

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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.

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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.

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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.

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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.

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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.

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A study of thousands of people with bipolar disorder suggests that genetic risk factors may influence the decision to attempt suicide.

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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.

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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.

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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.

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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.

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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.

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Five genetic variants in humans – four new – associate with Nonalcoholic Fatty Liver Disease (NAFLD), according to a study published March 10 in PLoS Genetics.

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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.

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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.

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Researchers have created the first mouse models of human MYH9 genetic disorders, which cause several problems -- including enlarged platelets and sometimes fatal kidney disease.

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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.

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Institute for Genome Sciences led pioneering investigation in new field of microbial forensics.

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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.

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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.

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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.

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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.

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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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By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth, making a breakthrough that will improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer.

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Some biologists are trying to inject honest-to-goodness engineering into the three-decade-old discipline of genetic engineering.

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New findings by a University of Maryland-led team of scientists show genetically engineered fungi carrying genes for human antibodies, scorpion toxins, etc. can be highly effective, specific and environmentally friendly tools for combating malaria, Lyme disease and other bug-borne illness. Pests like bed bugs and stink bugs can also be targeted.

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Researchers at the University of California, San Diego School of Medicine and Rady Children’s Hospital-San Diego say an evolutionary gene mutation that occurred in human millions of years ago and our subsequent inability to produce a specific kind of sugar molecule appears to make people more vulnerable to developing type 2 diabetes, especially if they’re overweight.

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Researchers at Albert Einstein College of Medicine of Yeshiva University have developed an experimental vaccine that appears to protect against an increasingly common and particularly deadly form of pneumococcal pneumonia. Details of the new vaccine, which was tested in an animal model, are reported in a paper published today in the Journal of Infectious Diseases.

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The microscopic phytoplankton Aureococcus anophagefferens, which causes devastating brown tides, may be tiny but it's a fierce competitor. In the first genome sequencing of a harmful algal bloom species, researchers found that Aureococcus' unique gene complement allows it to outcompete other marine phytoplankton and thrive in human-modified ecosystems, which could help explain the global increases in harmful algal blooms (HABs).

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Harmful algal blooms (HABs) are caused by single-celled plants, or phytoplankton, in coastal waters and have a negative impact on coastal ecosystems worldwide, costing the U.S. economy alone hundreds of millions of dollars annually. The impact of harmful algal blooms have intensified in recent decades and most research has focused on chemical nutrients such as nitrogen and phosphorus as causative agents of these blooms.

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Cross-disciplinary teams of scientists studying genetic pathways that are mutated in many forms of cancer, but which also cause certain forms of congenital heart disease – including hypertrophic cardiomyopathy (HCM), a thickening of the heart muscle that is the leading cause of sudden death in children and young adults –, have introduced these mutations into mice and successfully treated HCM in the lab.

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Scientists have decoded the DNA of the parasitic worm that causes trichinosis, a disease linked to eating raw or undercooked pork or carnivorous wild game animals, such as bear and walrus.

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A new commentary by four internationally prominent genetic medicine and bioethics experts cautions against the dangers of inflated expectations for genomics research and offers ways to avoid it while still realizing “the true – and considerable – promise of the genomic revolution.”

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For 30 years, two General Electric facilities released about 1.3 million pounds of polychlorinated biphenyls (PCBs) into New York’s Hudson River, devastating and contaminating fish populations. Some 50 years later, one type of fish—the Atlantic tomcod—has not only survived but appears to be thriving in the hostile Hudson environment.

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The most popular model used by geneticists for the last 35 years to detect the footprints of human evolution may overlook more common subtle changes, a new international study finds.

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Scientists discover a genetic variant that allows a fish in the Hudson River to live in waters heavily polluted by PCBs.

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George Washington University researcher, Dr. Valerie Hu, Professor of Biochemistry and Molecular Biology, and her team at the School of Medicine and Health Sciences, have found that male and female sex hormones regulate expression of an important gene in neuronal cell culture through a mechanism that could explain not only higher levels of testosterone observed in some individuals with autism, but also why males have a higher incidence of autism than females.

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Examining people across the spectrum of type 2 diabetes—from healthy to the full-blown disease—Joslin Diabetes Center scientists have found a molecular pathway that offers novel targets for drugs.

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Evolution is not a steady march towards ever more sophisticated beings and therefore the search for the living "missing links" is pointless, according to findings published by a team of researchers led by Dr. Hervé Philippe of the Université de Montréal's Department of Biochemistry.

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In the wake of a recent FDA statement linking breast implants to a rare cancer called anaplastic large cell lymphoma (ALCL), a newly updated algorithm provides plastic surgeons with guidance in managing women with breast lumps or swelling after breast augmentation. The algorithm appears in an article published on the website of Plastic and Reconstructive Surgery®, the official medical journal of the American Society of Plastic Surgeons (ASPS). The article will be published in the June 2011 print issue of the journal.

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Leafcutter ants, signature denizens of New World tropical forests, are unique in their ability to harvest fresh leaves to cultivate a nutrient-rich fungus as food.

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The University at Buffalo is a key partner in a $7.3 million collaboration to explore the origins of all flowers by sequencing the genome of Amborella, a unique species that one researcher has nicknamed the “platypus of flowering plants.”

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Two strategies to control mosquito-borne diseases, such as malaria and dengue fever, are reducing mosquito population sizes or replacing populations with disease-refractory varieties. Scientists have modeled a genetic system that may be used for both, without the use of pesticides. This research was published in the February 2011 issue of Genetics.

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Genetic testing for inherited blood-clotting abnormalities is not routinely recommended for patients with venous thromboembolism (VTE) of unknown cause, according to a new expert panel statement in a recent issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics (ACMG).

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The discovery that a “gene desert” on chromosome 9 was a hotspot for coronary artery disease (CAD) risk was among the highlights of findings produced recently by genome-wide association studies, which compare the genomes of many people for genetic variations and have been broadly used in the past few years to study hundreds of diseases and complex traits. Gene deserts are large genomic segments devoid of genes.

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For the first time, researchers have laid bare the full genetic blueprint of multiple prostate tumors, uncovering alterations that have never before been detected and offering a deep view of the genetic missteps that underlie the disease. The study, made possible by key advances in whole genome sequencing and analysis, points to several new prostate cancer genes and a critical category of genomic changes as important drivers of prostate cancer growth. The work was led by researchers from Weill Cornell Medical College, the Broad Institute, and the Dana-Farber Cancer Institute and appears in the Feb. 10th issue of the journal Nature.

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Washington University School of Medicine researchers report they have identified a gene that limits damage to the lung during acute stress from illness, trauma or transplant.

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Crop yields from India’s first genetically modified crop may have been overemphasized, as modest rises in crop yields may come at the expense of sustainable farm management, says a new study by a Washington University in St. Louis anthropologist.

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People who produce lower levels of the brain molecule neuropeptide Y appear to be at increased risk of developing a major depressive disorder, U-M study finds.

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In a paper published online Feb. 7 in the UK Institute of Physics journal Physical Biology, Paul Davies at Arizona State University and Charles Lineweaver from the Australian National University draw on their backgrounds in astrobiology to explain why cancer cells deploy so many clever tricks in such a coherent and organized way.

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New research from St. Jude Children’s Research Hospital and the Children’s Oncology Group ties the genetic variation characteristic of Native American ancestry to higher odds cancer will return and highlights a strategy to ease the racial disparities in survival.