Feature Channels: Genetics

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“Superinformation,” or the randomness of randomness, can be used to predict the coding and noncoding regions of DNA.

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Researchers from Sainte-Justine University Hospital Center and University of Montreal have identified several novel genes that make some children more efficient than others in the way their immune system responds to malaria infection.

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Physicians report parents of infants who are cystic fibrosis carriers are more likely to receive genetic counseling.

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The first complete map of the ants' olfactory system has discovered that the eusocial insects have four to fives more odorant receptors -- the special proteins that detect different odors -- than other insects.

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A team of scientists from Johns Hopkins and other institutions report that restoring tiny, hair-like structures to defective cells in the olfactory system of mice is enough to restore a lost sense of smell. The results of the experiments were published online last week in Nature Medicine, and are believed to represent the first successful application of gene therapy to restore this function in live mammals.

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More than a cancer-causing gene is needed to trigger pancreatic cancer, a study led by Mayo Clinic has found. A second factor creates a “perfect storm” that allows tumors to form, the researchers say. The study, published in the Sept. 10 issue of Cancer Cell, overturns the current belief that a mutation in the KRAS oncogene is enough to initiate pancreatic cancer and unrestrained cell growth.

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A study of more than 6,000 genes in a common species of yeast has identified the pathways that govern the instability of GAA/TTC repeats. In humans, the expansions of these repeats is known to inactivate a gene – FXN – which leads to Friedreich’s ataxia, a neurodegenerative disease that is currently incurable.

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Patients suffering from dangerous blood clots will receive genetic testing to help health professionals at the University of Illinois Hospital & Health Sciences System prescribe the proper dose of the blood-thinner warfarin.

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For the first time, a mutation in HIF2α, a specific group of genes known as transcription factors that is involved in red blood cell production and cell metabolism, has been identified in cancer tumor cells.

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Researchers from Roswell Park Cancer Institute and Duke University Medical Center have developed a computational method of identifying "causal" genetic variants that lead to particular diseases, with wide application for genome-wide association studies.

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Scientists have completed a comprehensive map of genetic mutations linked to an aggressive and lethal type of lung cancer. Among the errors found in small cell lung cancers, the team of scientists, including those at the Johns Hopkins Kimmel Cancer Center, found an alteration in a gene called SOX2 associated with early embryonic development.

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September spotlights childhood cancer, which remains the leading cause of death by disease of young Americans. At St. Jude Children’s Research Hospital, doctors and scientists are working to change that statistic.

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A study led by researchers at the UC San Diego Stem Cell Research program and funded by the California Institute for Regenerative Medicine (CIRM) looks at an important RNA binding protein called LIN28, which is implicated in pluripotency and reprogramming as well as in cancer and other diseases.

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A team of scientists led by a bone marrow transplant researcher at Fred Hutchinson Cancer Research Center has shed new light on why most bone marrow transplant patients who receive tissue-matched cells from unrelated donors still suffer acute graft-versus-host disease (GVHD). The answer appears to lie in the discovery of previously undetected genetic differences in the DNA of patients and unrelated marrow donors.

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Researchers have discovered two gene variants that raise the risk of the pediatric cancer neuroblastoma, as well as contributing to a tumor's progression. The findings may suggest future targets for new therapies.

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Scientists have restored the sense of smell in mice through gene therapy for the first time -- a hopeful sign for people who can’t smell anything from birth or lose it due to disease. The achievement in curing congenital anosmia may also aid research on other conditions that also stem from problems with the cilia.

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Prostate cancer in African-American men is associated with specific changes in the IL-16 gene, and by establishing the link in men of African as well as European descent, researchers at the University of Illinois at Chicago College of Medicine may have found a useful new biomarker for prostate cancer.

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Soil bacteria and bacteria that cause human diseases have recently swapped at least seven antibiotic-resistance genes, researchers at Washington University School of Medicine in St. Louis report Aug. 31 in Science.

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African Americans have higher blood levels of a protein associated with increased heart-disease risk than European Americans, despite higher “good” HDL cholesterol and lower “bad” triglyceride levels. This contradictory observation now may be explained, in part, by a genetic variant identified in the first large-scale, genome-wide association study of this protein involving 12,000 African American and Hispanic American women.

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A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests.

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People who carry a “G” instead of an “A” at a specific spot in the sequence of their genetic code have roughly a six-fold higher risk of developing certain types of brain tumors, according to a study by researchers at the University of California, San Francisco and Mayo Clinic.

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People who carry a “G” instead of an “A” at a specific spot in their genetic code have roughly a six-fold higher risk of developing certain types of brain tumors (http://www.mayoclinic.com/health/brain-tumor/DS00281), a Mayo Clinic and University of California, San Francisco (http://www.ucsf.edu) study has found.

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New study results call for better screening for diabetes, heart disease.

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Researchers at Moffitt Cancer Center and colleagues have identified PHF20, a novel transcriptional factor, and clarified its role in maintaining the stability and transcription of p53, a gene that allows for both normal cell growth and tumor suppression. PHF20, the researchers found, plays a previously unknown and unique role in regulating p53.

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In research published in September’s American Journal of Human Genetics, Georgia Tech's Soojin Yi looked at brain samples of each species. She found that differences in certain DNA modifications, called methylation, may contribute to phenotypic changes. The results also hint that DNA methylation plays an important role for some disease-related phenotypes in humans, including cancer and autism.

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Scientists at North Carolina State University have discovered a phenomenon never seen before in plants while studying molecular changes inside tree cells as wood is formed.

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Researchers pinpoint uniquely human patterns of gene activity in the brain that shed light on how we evolved differently than our closest relative. Identifying these genes could deepen understanding of human brain diseases.

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Research on a unique vertebrate called the sea lamprey shows that more than a thousand genes are shed during its early development and “sealed’ into a compartment so they cannot be misexpressed and create untoward problems. The study was done at Benaroya Research Institute at Virginia Mason.

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More than one out of every four cases of breast cancer is associated with a specific, missing gene – a finding that could have significant implications for chemotherapy treatments, according a recent study by Cornell University researchers.

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A symposium that showcases chemistry’s pivotal role in righting some of the highest-profile cases of innocent people proven guilty unfolds today at the 244th National Meeting & Exposition of the American Chemical Society, the world’s largest scientific society. It features presentations by forensic scientists, attorneys and others who used science to right wrongs, freeing innocent people and saving the lives of prisoners on death row.

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Using information about the unique mating practices of the male malaria mosquito - which, unlike any other insect, inserts a plug to seal its sperm inside the female - scientists are zeroing in on a birth-control drug for Anopheles mosquitoes, deadly carriers of the disease that threatens 3 billion people, has infected more than 215 million and kills 655,000 annually.

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Scientists have found that Mother Nature uses DNA as a wire to detect the constantly occurring genetic damage and mistakes that can result in diseases like cancer. That topic - DNA wires and their potential use in identifying people at risk for certain diseases - is the focus of a plenary talk here today during the 244th National Meeting & Exposition of the American Chemical Society.

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Scientists have demonstrated an automated system that uses artificial intelligence and cutting-edge image processing to rapidly examine large numbers of individual nematodes -- a species widely used in biological research.

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New Jersey Medical School researchers develop DNA sequencing tests for hereditary diseases. Reduces costs, improves effectiveness and turn-around time for diagnosis.

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Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard scientists have identified a new class of genes, dubbed CYCLOPS, that may serve as an Achilles' heel for many forms of cancer.

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Researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome. Mutations in the HDAC8 gene disrupt genetic transcripton, impairing early development.

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Research published in the journal GENETICS implicates several genes that may stop certain types of cancer.

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A new educational resource or "Primer" in the GENETICS journal connects cutting-edge research with critical thinking in undergraduate instruction.

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Marin County, California has one of the highest rates of breast cancer in the world, a fact that scientists know has nothing to do with the land itself but with some other, unknown factor. A new study that analyzed mouth buccal cell samples stored frozen at the University of California, San Francisco (UCSF) suggests what this factor may be: a genetic trait present among women within the county’s predominantly white population.

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Georgia Tech researchers are focusing on ways to fight cancer by attacking defective genes before they are able to make proteins. Professor John McDonald is studying micro RNAs (miRNAs), a class of small RNAs that interact with messenger RNAs (mRNAs) that have been linked to a number of diseases, including cancer. McDonald’s lab placed two different miRNAs (MiR-7 and MiR-128) into ovarian cancer cells and watched how they affected the gene system.

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A new genetic analysis focusing on Jews from North Africa has provided an overall genetic map of the Jewish Diasporas. The findings support the historical record of Middle Eastern Jews settling in North Africa during Classical Antiquity, proselytizing and marrying local populations, and, in the process, forming distinct populations that stayed largely intact for more than 2,000 years. The study, led by researchers at Albert Einstein College of Medicine of Yeshiva University, was published online today in the Proceedings of the National Academy of Sciences.

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People suffering from the “essential tremor” disorder can now be more easily diagnosed.

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Whitehead Institute researchers have created a complete catalog of genes active in the planarian eye. Several identified genes are known to have versions that play a role in the vertebrate eye, including genes involved in eye development and age-related macular degeneration and Usher syndrome, a disorder that causes progressive retinal degradation.

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The discovery of virus-like genes in the DNA of a commonly studied fruit fly could enable research on whether animals hijack viral genes as an anti-viral defense.

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Identifies 13 novel alterations in aggressive blood cancer.

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The College of American Pathologists (CAP) published a revised version of its molecular pathology checklist with a dedicated section on next generation sequencing (NGS) as part of the new edition of the CAP Laboratory Accreditation Program checklists released July 31, 2012. The CAP is the first to publish an accreditation checklist that addresses NGS, advancing standardized practice in genomic testing.

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Johns Hopkins researchers have discovered a new drug that may be useful in treating a heart rhythm condition called long QT syndrome. The study was published online on June 28 in the Early Edition of the Proceedings of the National Academy of Sciences.

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Researchers at the University of Utah Departments of Neurology and Human Genetics, in collaboration with researchers at Duke University Medical Center, have discovered that mutations in the ATP1A3 gene cause the disease in the majority of patients with a diagnosis of AHC.

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Researchers from the Massachusetts Eye and Ear Infirmary, The Children's Hospital of Philadelphia, Loyola University Chicago Health Sciences Division and their collaborators have isolated an elusive human gene that causes a common form of Leber congenital amaurosis (LCA), a relatively rare but devastating form of early-onset blindness. The new LCA gene is called NMNAT1. Finding the specific gene mutated in patients with LCA is the first step towards developing sight-saving gene therapy.

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Using a new assay method to study tumor cells, researchers at the University of California, San Diego School of Medicine and UC San Diego Moores Cancer Center have found evidence of clonal evolution in chronic lymphocytic leukemia (CLL). The assay method distinguishes features of leukemia cells that indicate whether the disease will be aggressive or slow-moving, a key factor in when and how patients are treated.