Feature Channels: Genetics

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By studying the genetic makeup of breast cancer patients, doctors are taking the next steps forward in delivering more personalized care to patients. Whole genome sequencing from cancers is not a new concept, but recently researchers have delved more deeply into the evolution of breast cancers identifying that it comes in four distinct types. Breaking down how the cells of each sub-type of the disease function is allowing for doctors to customize treatments for improved outcomes.

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A global hunt for genes that influence heart disease risk has uncovered 157 changes in human DNA that alter the levels of cholesterol and other blood fats – a discovery that could lead to new medications.

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Children born with developmental disorders called cohesinopathies can suffer severe consequences, including intellectual disabilities, limb shortening, craniofacial anomalies, and slowed growth. Researchers know which mutations underlie some cohesinopathies, but have developed little understanding of the downstream signals that are disrupted in these conditions.

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Whitehead Institute researchers have discovered that the protein product of the gene MECP2, which is mutated in about 95% of Rett syndrome patients, is a global activator of neuronal gene expression. Mutations in the protein can cause decreased gene transcription, reduced protein synthesis, and severe defects in the AKT/mTOR signaling pathway.

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Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals -- seven percent of the study group -- had one copy of one or more genes when they should have had two.

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As more and more people recognize the importance of the wild relatives of crop plants to agriculture and food security, interest in cataloging and conserving these plants is building around the world. At the annual meetings of the American Society of Agronomy, Crop Science Society of America, and Soil Science Society of America on Nov. 3-6, 2013, two speakers will describe the latest efforts to identify and protect the wild relatives of domesticated crop plants both in the United States and abroad.

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The discovery of genetic differences affecting up to a third of the population could take the guesswork out of prescribing the correct dose of 25 percent of drugs currently on the market, researchers say.

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New psychology research shows how genes can be stimulated or suppressed depending on the child's environment and could help bridge the achievement gap between rich and poor students.

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By detailing a process required for repairing DNA breakage, scientists at the Duke Cancer Institute have gained a better understanding of how cells deal with the barrage of damage that can contribute to cancer and other diseases.

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Researchers say it’s clear that some cases of autism are hereditary, but have struggled to draw direct links between the condition and particular genes. Now a team at the Johns Hopkins University School of Medicine, Tel Aviv University and Technion-Israel Institute of Technology has devised a process for connecting a suspect gene to its function in autism.

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University of Chicago scientists have created one of the most expansive analyses to date of the genetic factors at play in complex diseases such as autism and heart disease—by using diseases with known genetic causes to guide them. Identifying trends of co-occurrence among hundreds of diseases in 120 million patients, they created a unique genetic map that has the potential to help diagnose, identify risk factors for and someday develop therapies against complex diseases.

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A Mayo Clinic researcher, along with his collaborators, has shown that an individual’s genomic makeup and diet interact to determine which microbes exist and how they act in the host intestine. The study was modeled in germ-free knockout mice to mimic a genetic condition that affects 1 in 5 humans and increases the risk for digestive diseases.

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A specific gene variant is more frequent among elite athletes in power sports, reports a study in the October issue of The Journal of Strength and Conditioning Research, official research journal of the National Strength and Conditioning Association (NSCA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

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Insights of several research teams actively engaged in integrating genomic medicine into the electronic health record are featured in the October 2013 issue of Genetics in Medicine.

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New research to be published this week in the online early edition of the Proceedings of the National Academy of Sciences shows, for the first time, that this measurement of seasonal time has an epigenetic component.

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Chronic aggressive behaviour exhibited by some boys from disadvantaged families may be due to epigenetic changes during pregnancy and early childhood.

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A team of researchers affiliated with Ludwig Cancer Research and the Karolinska Institutet in Sweden report in the current issue of Nature Methods a dramatically improved technique for analyzing the genes expressed within a single cell—a capability of relevance to everything from basic research to future cancer diagnostics.

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Pioneering new research from a team of Indiana University Bloomington biologists has shown for the first time that a protein which has been long known to be critical for the initiation of protein synthesis in all organisms can also play a role in the regulation of gene expression in some bacteria, and probably land plants as well.

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An international team of researchers, led by scientists at The Genome Institute at Washington University School of Medicine in St. Louis and the University of Michigan School of Public Health in Ann Arbor, have identified a gene mutation linked to age-related macular degeneration (AMD), the leading cause of blindness in Americans over age 50.

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Cancer tumors almost never share the exact same genetic mutations, a fact that has confounded scientific efforts to better categorize cancer types and develop more targeted, effective treatments. Researchers at the University of California, San Diego propose a new approach called network-based stratification, which identifies cancer subtypes not by the singular mutations of individual patients, but by how those mutations affect shared genetic networks or systems.

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• A genetic variant on chromosome 2 is linked with kidney failure in women with type 1 diabetes but not in men. • Diabetic women with the risk variant had a nearly two-fold increased risk of developing kidney failure compared with diabetic women who did not have the risk variant.

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More than 5,000 genetic profiles of tumor DNA have been completed in a large research study by scientists at Dana-Farber Cancer Institute, Brigham and Women’s Hospital, and Boston Children’s Hospital designed to speed the development of personalized cancer care with precision treatments.

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We often think of human cells as tiny computers that perform assigned tasks, where disease is a result of a malfunction. But in the current issue of Science, researchers at The Mount Sinai Medical Center offer a radical view of health — seeing it more as a cooperative state among cells, while they see disease as result of cells at war that fight with each other for domination.

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10 ways the human genome can affect diagnosis and treatment in health.

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How and why fish swim in schools has long fascinated biologists looking for clues to understand the complexities of social behavior. A new study by a team of researchers at Fred Hutchinson Cancer Research Center may help provide some insight.

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Researchers have discovered the details of how cells repair breaks in both strands of DNA, a potentially devastating kind of DNA damage.

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Case Western Reserve University is part of a landmark study that has discovered four novel gene variations associated with blood pressure.

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Researchers have discovered the first inherited gene mutation linked exclusively to acute lymphoblastic leukemia (ALL) occurring in multiple relatives in individual families.

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A team of University of Montreal and McGill University researchers have devised a method to identify how signaling molecules orchestrate the sequential steps in cell division.

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Behavioral abnormalities are traditionally thought to originate in the brain. But a new study by researchers at Albert Einstein College of Medicine of Yeshiva University has found that inner-ear dysfunction can directly cause neurological changes that increase hyperactivity.

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Ground-breaking new research from a team of evolutionary biologists at Indiana University shows for the first time how asexual lineages of a species are doomed not necessarily from a long, slow accumulation of new mutations, but rather from fast-paced gene conversion processes that simply unmask pre-existing deleterious recessive mutations.

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Darwin referred to the origin of species as "that mystery of mysteries," and even today, more than 150 years later, evolutionary biologists cannot fully explain how new animals and plants arise.

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By studying rare families in which a daughter shares the same Y chromosome as her father, Michael Weiss, MD, PhD, and his colleagues at the CWRU School of Medicine have determined that the pathway for male sexual development is not as consistent and robust as scientists have always assumed.

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A new study published today in Arthritis Research & Therapy provides the first genomic characterization of remission in juvenile rheumatoid arthritis patients.

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Researchers have identified a disease gene in which mutations cause rare but devastating genetic diseases known as mitochondrial disorders. Nine mutations of the gene were found in nine children in seven families, including three siblings from the same family.

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Whitehead Institute researchers have used the gene regulation system CRISPR/Cas (for “clustered regularly interspaced short palindromic repeat/CRISPR-associated) to engineer mouse genomes containing reporter and conditional alleles in one step. Animals containing such sophisticated engineered alleles can now be made in a matter of weeks rather than years and could be used to model diseases and study gene function.

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Scientists from the Florida campus of The Scripps Research Institute have shown that a well-known cancer-causing gene implicated in a number of malignancies plays a far more critical role in non-small cell lung cancer, the most common form of the disease, than previously thought.

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Researchers have created a model that may explain the complexities of the origins of life. Their work offers new insights into how RNA signaling likely developed into the modern “genetic code.”

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Researchers have tied mutations in a gene that causes amyotrophic lateral sclerosis (ALS) and other neurodegenerative disorders to the toxic buildup of certain proteins and related molecules in cells, including neurons.

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Joslin scientists, in collaboration with researchers from the Harvard School of Public Health and Italian research institutes, have identified a previously unknown genetic variant associated with an increased risk of coronary heart disease (CHD) in type 2 diabetic patients. This discovery has the potential to lead to the development of new treatments for CHD in diabetic patients.

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By creating a powerful new gene regulation system called CRISPR-on, Whitehead Institute researchers now have the ability to increase the expression of multiple genes simultaneously and precisely manipulate each gene’s expression level. The system is effective in both mouse and human cells as well as in mouse embryos.

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Scientists successfully crystallized a short RNA sequence, poly (rA)11, and used data collected at the Canadian Light Source (CLS) and the Cornell High Energy Synchrotron to confirm the hypothesis of a poly (rA) double-helix.

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Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF), it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious, accounting for 95 percent of the variations found in patients with CF.

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In an era of widespread genetic sequencing, the ability to edit and alter an organism’s DNA is a powerful way to explore the information within and how it guides biological function.

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A new study has revealed marked differences in the genomic terrain of the two most common types of cervical cancer, suggesting that patients might benefit from therapies geared to each type’s molecular idiosyncrasies.

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A statistical model accounting for dozens of different genes in combination—and the interactions between them—is an important step forward in understanding the genetic factors affecting the risk of Crohn's disease (CD), reports a study in Inflammatory Bowel Diseases, official journal of the Crohn's & Colitis Foundation of America (CCFA). The journal is published by Lippincott Williams & Wilkins, a part of Wolters Kluwer Health.

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Researchers from Beth Israel Deaconess Medical Center and Boston University School of Medicine find that the same genetic mutation responsible for red hair also promotes a well-known cancer-causing pathway

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High-risk pregnant women are being recruited for a clinical trial that aims to give parents detailed information about genetic abnormalities found with the latest prenatal genetic testing, known as microarray.

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By any measure, tuberculosis (TB) is a wildly successful pathogen. It infects as many as two billion people in every corner of the world, with a new infection of a human host estimated to occur every second.

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A rare, small RNA turns a gene-splicing machine into a switch that controls the expression of hundreds of human genes. Researchers have discovered an entirely new aspect of the gene-splicing process that produces messenger RNA.