Feature Channels: Genetics

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Columbia University Medical Center researchers have identified dozens of new spontaneous genetic mutations that play a significant role in the development of schizophrenia, adding to the growing list of genetic variants that can contribute to the disease. The study, the largest and most comprehensive of its kind, was published today in the online edition of the journal Nature Genetics.

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Engineers at the University of Texas at Dallas have used advanced techniques to make the material graphene small enough to read DNA. Shrinking the size of the graphene pore to less than one nanometer opens the possibility of graphene as a low-cost tool to sequence DNA.

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Ateam of researchers from multiple institutions, including Gregory Frolenkov, of the University of Kentucky College of Medicine Department of Physiology, reported a novel type of gene associated with Usher syndrome.

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Research published in the journal GENETICS links NF1, a known oncogene driver in other cancers, with more than 25% of breast cancers—an important finding during National Breast Cancer Awareness Month.

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Research published in the journal GENETICS may lead to more protective flu vaccines by helping developers more accurately predict strains most likely to strike the population in the coming season.

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These are the selected highlights for the October 2012 issue of the Genetics Society of America’s journal, GENETICS.

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The 4th Annual Consumer Genetics Conference takes place this week, October 3-5 at the Boston Seaport Hotel. This unique interactive forum, will highlight three major themes regarding this burgeoning industry: Technology (Day 1), Business & Translation (Day 2) and Applications (Day 3). Presentations will specifically cover a variety of topics including: personal genomics, next and third generation sequencing, molecular diagnostics, industry funding and investment, and the current and future applications of genomics in clinical practices and as well as in nutrition, food genetics and cosmetics.

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New research from UNC has established a new link between two fundamental epigenetic tags -- histone H3 lysine 9 methylation and DNA methylation -- in humans.

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Researchers at the Sainte-Justine University Hospital Center and University of Montreal have identified genetic origins in 10% of an important form of congenital heart diseases by studying the genetic variability within families.

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Scientists may be one step closer to predicting the uncertain course of relapsing-remitting multiple sclerosis (MS), a disease that can lay dormant for months or years, thanks to the discovery of a unique genetic marker. The marker, detailed by researchers in the August edition of The Journal of Immunology, is the first of its kind to be directly linked to MS.

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Rapid-onset dystonia-parkinsonism (RDP) is caused by a genetic mutation that often runs in families. Now Wake Forest Baptist Medical Center researchers believe that same genetic predisposition might also be associated with psychiatric problems, such as anxiety, mood disorders and substance abuse/dependence.

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Male DNA is commonly found in the brains of women, most likely derived from prior pregnancy with a male fetus, according to first-of-its-kind research conducted at Fred Hutchinson Cancer Research Center. While the medical implications of male DNA and male cells in the brain are unknown, studies of other kinds of microchimerism – the harboring of genetic material and cells that were exchanged between fetus and mother during pregnancy – have linked the phenomenon to autoimmune diseases and cancer, sometimes for better and other times for worse.

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AMP v USPTO case challenges patents as dangerous roadblock to patient care, medical Innovation.

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Study explores psychosocial implications related to relationships, marriage and childbearing.

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Researchers in the Taub Institute at Columbia University Medical Center have identified a mechanism that appears to underlie the common sporadic (non-familial) form of Parkinson’s disease, the progressive movement disorder. The discovery highlights potential new therapeutic targets for Parkinson’s and could lead to a blood test for the disease. The study, based mainly on analysis of human brain tissue, was published today in the online edition of Nature Communications.

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Cancer researchers studying 44 known genetic variants associated with breast cancer have found the way to identify why they increase cancer risk, opening the door to future therapeutic applications based on personalized medicine.

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A new study by Dr. Benjamin J. Luft of Stony Brook University School of Medcicine and colleagues will explore the role genetics may play in the development of PTSD and respiratory illness in 9/11 WTC responders.

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Biologists at UC San Diego have unraveled the anti-viral mechanism of a human gene that may explain why some people infected with HIV have much higher amounts of virus in their bloodstreams than others.

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Mayo Clinic researchers and an international team of scientists have developed a highly-efficient means of editing zebrafish genomes for research purposes, eliminating a bottleneck that has stymied biomedical scientists from using the fish as a model for human disease.

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ew mouse models can help scientists study a rare disease, called SECISBP2 syndrome, that causes abnormal thyroid hormone metabolism, delayed bone maturation, as well as other abnormal characteristics that vary by individual, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

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Genome-wide epigenomic screening can pinpoint disease-associated variants and identify novel genetic–epigenetic interactions in autoimmune thyroid diseases, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

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New mouse models can help scientists study MCT8 deficiency, an inherited genetic disorder affecting children, according to new data presented at the 82nd Annual Meeting of the American Thyroid Association (ATA) in Québec City, Québec, Canada.

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Loss of function in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene causes central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to data presented at the 82nd Annual Meeting of the American Thyroid Association in Québec City, Québec, Canada.

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A genetic mutation that occurred thousands of years ago might be the answer to how early humans were able to move from central Africa and across the continent in what has been called “the great expansion,” according to new research from Wake Forest Baptist Medical Center.

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Biologists and informaticists at Indiana University have produced one of the most extensive pictures ever of mutation processes in the DNA sequence of an organism, elucidating important new evolutionary information about the molecular nature of mutations and how fast those heritable changes occur.

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In children with Autism Spectrum Disorders (ASD), a common gene mutation has been found to impact the network of connections between different areas of the brain involved in social behavior, such as recognizing the emotions shown on people’s faces.

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Advancements in sequencing and diagnostics technology are the underlying elements driving the genomic revolution. With the free-falling cost of sequencing, richer reference data and improved interpretation methods, the use of personal genomics is beginning to take greater root in clinical practice.

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Lung cancer patients with a history of smoking have 10 times more genetic mutations in their tumors than those with the disease who have never smoked, according to a new study from Washington University School of Medicine in St. Louis.

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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.