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.
Research published in the journal GENETICS implicates several genes that may stop certain types of cancer.
A new educational resource or "Primer" in the GENETICS journal connects cutting-edge research with critical thinking in undergraduate instruction.
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.
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.
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.
People suffering from the “essential tremor” disorder can now be more easily diagnosed.
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.
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.
Identifies 13 novel alterations in aggressive blood cancer.
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.
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.
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.
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.
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.
Researchers at Columbia University Medical Center (CUMC) have discovered that some cases of glioblastoma, the most common and aggressive form of primary brain cancer, are caused by the fusion of two adjacent genes. The study also found that drugs that target the protein produced by this genetic aberration can dramatically slow the growth of glioblastomas in mice. The findings were published today in the online edition of the journal Science.
Using comparisons of protein structure, researchers identified Actinobacteria as the base of the evolutionary tree. They will present their findings at the annual meeting of the American Crystallographic Association (ACA), held July 28 – Aug. 1 in Boston, Mass.
Informatics researchers create an experimental framework for online, clinic-ready apps and ask others to embrace and expand it.
By examining fruit flies at two different stages of their lives – youth and middle age -- a team of U.S. scientists has discovered important insights that explain why our ability to ward off infection declines with age. The findings are published in the July 2012 issue of the Genetics Society of America’s journal, GENETICS.
A new study published in the July 11 issue of the Journal of Neuroscience details the development of the first mouse model engineered to carry the most common mutation in Usher syndrome III causative gene (Clarin-1) in North America.
A new study sheds light on cholesterol and bile metabolism in the liver.
Research teams from UTHealth and Paris, France have discovered a gene defect linked to a cluster of systemic complications, including life-threatening thoracic aortic disease and intracranial aneurysms.
Genetics Society of America’s Model Organisms to Human Biology: Cancer Genetics meeting highlighted the role of pathways, gene regulatory networks, in the spread of cancer.
Scientists at Arizona State University have discovered that honey bees may teach us about basic connections between taste perception and metabolic disorders in humans.
Researchers at the University of California, San Diego – led by Gary S. Firestein, professor in the Division of Rheumatology, Allergy and Immunology at UC San Diego School of Medicine – investigated a mechanism usually implicated in cancer and in fetal development, called DNA methylation, in the progression of rheumatoid arthritis (RA). They found that epigenetic changes due to methylation play a key role in altering genes that could potentially contribute to inflammation and joint damage.
The identification of key proteins in a group of heat-loving bacteria by researchers at the Department of Energy’s BioEnergy Science Center could help light a fire under next-generation biofuel production.
High risk and better outcome for glioma wrapped up in rare gene variant.
Researchers have identified genetic markers that may influence whether a person finishes high school and goes on to college, according to a national longitudinal study of thousands of young Americans. The study is in the July issue of Developmental Psychology, a publication of the American Psychological Association.
People with lung cancer who are treated with the drug Tarceva face a daunting uncertainty: although their tumors may initially shrink, it's not a question of whether their cancer will return—it's a question of when. And for far too many, it happens far too soon.
In a paper published in the July 1, 2012 issue of the journal Nature, researchers at the Ludwig Institute for Cancer Research and the University of California, San Diego School of Medicine open the book further, mapping for the first time a significant portion of the functional sequences of the mouse genome, the most widely used mammalian model organism in biomedical research.
Researchers shed light on molecular cause of childhood’s worst conditions as first step toward developing more effective treatments
“Paper of the week” shows that a master regulator protein brings plethora of coactivators to gene expression sites.
An international team including scientists from the University of Saskatchewan-Saskatoon Health Region and University of British Columbia, with the help of Saskatchewan Mennonite families, has identified an abnormal gene which leads to Parkinson’s disease.
A large study in people at risk of diabetes has found a direct association between the presence of a small genetic alteration in a hormone receptor and increased body fat and insulin resistance. The results, to be presented Tuesday at The Endocrine Society’s 94th Annual Meeting in Houston, suggest an adverse role for a previously described genetic variant, the BclI polymorphism.
Prenatal exposure to bisphenol A, or BPA, a chemical found in many common plastic household items, can cause numerous genes in the uterus to respond differently to estrogen in adulthood, according to a study using a mouse model. The results will be presented Tuesday at The Endocrine Society’s 94th Annual Meeting in Houston.
In a paper published in the June 24, 2012 online issue of Nature Genetics, a team of doctors and scientists, led by researchers at the University of California, San Diego School of Medicine and the Howard Hughes Medical Institute, say de novo somatic mutations in a trio of genes that help regulate cell size and proliferation are likely culprits for causing hemimegalencephaly, though perhaps not the only ones.
The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the “guardian of the genome” because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia. The findings are detailed online in Cell.
Amazingly, the small, black-and-white striped zebrafish has biological similarities to humans, and is increasingly a popular model organism for studying vertebrate development, genetics, physiology, and mechanisms of disease as featured at the ongoing 2012 International Zebrafish Development and Genetics Conference in Madison, Wisconsin
UNC scientists have discovered that a commonly held assumption is wrong and that a separate role of the SMN gene – still not completely elucidated -- is likely responsible for the disease’s manifestations.
UCLA researchers have combined two tools – gene expression and the use of peripheral blood -- to expand scientists’ arsenal of methods for pinpointing genes that play a role in autism. The findings could help scientists zero in on genes that offer future therapeutic targets for the disorder.
Double-cortex syndrome primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.
Whitehead Institute researchers have determined and analyzed the crystal structure of a yeast Argonaute protein bound to RNA, which plays a key role in the RNA interference (RNAi) pathway that silences genes.
The St. Jude Children’s Research Hospital – Washington University Pediatric Cancer Genome Project lifts lid on the most aggressive subtype of medulloblastoma and finds genes that cooperate in tumor development.
With a single drug treatment, researchers at the Ludwig Institute for Cancer Research at the University of California, San Diego School of Medicine can silence the mutated gene responsible for Huntington’s disease, slowing and partially reversing progression of the fatal neurodegenerative disorder in animal models.
Fish cannot display symptoms of autism, schizophrenia, or other human brain disorders. However, a team of Whitehead Institute and MIT scientists has shown that zebrafish can be a useful tool for studying the genes that contribute to such disorders.
Scientists are racing to sequence DNA faster and cheaper than ever by passing strands of the genetic material through molecule-sized pores. Now, University of Utah scientists have adapted this “nanopore” method to find DNA damage that can lead to mutations and disease.
Genetics Society of America’s Model Organism to Human Biology: Cancer Genetics meeting, occurring now in Washington, D.C., focuses on cancer research commonalities among species.
Zebrafish, a transparent member of the minnow family, are providing insight into human melanoma – a form of skin cancer – that may lead to new or repurposed drug treatments, for skin and other cancers. This will be reported at the Genetics Society of America’s “Model Organisms to Human Biology: Cancer Genetics” Meeting, June 17-20, 2012, in Washington, D.C.
• JAK3 mutations detected in 35 percent of NK/T-cell lymphoma patients tested. • Mutations increased growth of cultured NK/T-cell lymphoma cell lines. • JAK inhibitor increased cell death, suggesting a new therapeutic approach.
Loyola University Chicago researchers are taking advantage of a quirk in the evolution of fruit fly genes to help develop new weapons against cancer.
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