Feature Channels: Genetics

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Policies allowing genes to be patented can make it more difficult for patients to access testing for important disease-causing gene mutations, according to a series of papers in a special online supplement published by 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, a leading provider of information and business intelligence for students, professionals, and institutions in medicine, nursing, allied health, and pharmacy.

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Most people associate serotonin with brain neurology, but over 95 percent of the body’s serotonin occurs in the gastrointestinal tract, which has a complex neuronal circuit that has been called “the second brain” of the body.

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A new study from researchers at NYU Langone Medical Center found that the imprint of European colonialism and imperialism is evident in the genetic makeup of today’s Hispanic/Latino American populations. Scientists discovered that Europeans, Native Americans, as well as West Africans brought to the U.S. and Latin America by the trans-Atlantic slave trade, have influenced the genes of the current Hispanic/Latino populations. However, a large variation in genes among individuals within each population were still found to exist.

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An international consortium of scientists has identified two genes that when altered are closely associated with cleft lip and/or cleft palate. Cleft lip and cleft palate are among the world’s most common congenital malformations and occur in one in every 700 births. The study identified four different regions of the human genome likely to contain genes controlling risk for cleft lip and/or cleft palate.

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Plant breeders look to genetic markers to protect their research investments and unique plant varieties.

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New research led by McGill Biochemist Dr. William Muller helps explain why breast-milk cells lose their structure, causing them to clump up in strange ways (see photos) and sometimes become cancer tumors.

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Scientists evaluated a man’s entire genome sequence for disease risks and unusual drug responses. The analysis incorporated the man’s medical and family history and statistical disease risks. The work demonstrates that whole-genome sequencing might one day play a clinical role, advancing the concept of personalized medicine.

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In findings that may speed the search for disease-causing genes, a new study challenges the prevailing view that common diseases are usually caused by common gene variants (mutations). Instead, the culprits may be numerous rare variants, located in DNA sequences farther than expected from the original genetic “hot spots.”

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Genetic mutation can disrupt the way human cells make proteins, which in turn leads to inherited disease. According to one researcher, scientists are closer than ever to producing drugs that fix this disrupted-protein pathway and drastically improving treatment of genetic disease.

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A new study links progression of a lethal type of brain tumor with reduced expression of more than 600 immune system genes, suggesting how complex the immune response is to the cancer and the difficulty in designing an effective treatment.

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Researchers at the Ansary Stem Cell Institute and the Department of Psychiatry at Weill Cornell Medical College discovered that mice missing a single gene developed repetitive obsessive-compulsive-like behaviors. The genetically altered mice, which behaved much like people with a certain type of obsessive-compulsive disorder (OCD), could help scientists design new therapies for this debilitating condition.

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A renowned researcher on a select group of genetic alterations called nonsense mutations says scientists are now closer to producing drugs that will fix this disruption. UAB’s David Bedwell, Ph.D., says, “When you treat a genetic disease, the bottom line is how much of the missing protein do you need to restore to have a therapeutic benefit?” He presented data on an experimental drug that holds promise.

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Knocking genes out of action allows researchers to learn what genes do. University of Utah biologists pioneered the field. Mario Capecchi won a Nobel Prize for knockout mice. Kent Golic crippled fruit fly genes. Now, Erik Jorgensen and colleagues have deleted genes in nematode worms.

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A Johns Hopkins team has identified a protein in sensory cells on the “tongues” of fruit flies that allows them to detect a noxious chemical and, ultimately, influences their decision about what to eat and what to avoid.

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Researchers from NYU Langone Medical Center have discovered and characterized a general mechanism that controls transcription elongation in bacteria. The mechanism, described in the April 23 issue of Science, relies on physical cooperation between a moving ribosome and RNA polymerase (RNAP) that allows for a precise adjustment of the transcriptional yield in response to translational needs. The study could lead to the development of new ways to interfere with bacterial gene expression and serve as a new target for antimicrobial therapy.

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In a new study, researchers at Mount Sinai School of Medicine have taken a major step toward the ability to predict adverse drug reactions, using genetic, cellular, and clinical information to learn why some medicines cause heart arrhythmias in patients.

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In a major step toward predicting adverse drug reactions, systems biologists at Mount Sinai School of Medicine have integrated genetic, cellular and clinical information to find out why certain medicines can trigger fatal heart arrhythmias. The new framework could be used to study other cardiac disorders and certain neurological diseases, including epilepsy and autism, and could aid the advance of personalized medicine.

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Anxiety disorders and depression, as well as metabolic disorders such as obesity, type 2 diabetes, and arteriosclerosis, have all been linked to stress. But how? Weizmann Institute scientists have discovered that changes in the activity of a single gene not only cause mice to exhibit anxious behavior, but also lead to metabolic changes.

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Virginia Commonwealth University researchers have identified a new tumor-promoting gene that may play a key role in the development of liver cancer. Levels of the gene’s expression are significantly higher in more than 90 percent of patients with the disease compared to their healthy counterparts.

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Investigators from New Jersey’s only NCI-Comprehensive Cancer Center are sharing their findings on how a common genetic variation can impact diagnosis of breast cancer in postmenopausal women. At focus is a tumor suppressor gene and how a genetic change in DNA sequence can delay disease onset for this population.

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A team of investigators from Columbia, Rockefeller and Stanford Universities has identified a new gene involved in hair growth, as reported in a paper in the April 15 issue of Nature. This discovery may affect future research and treatments for male pattern baldness and other forms of hair loss.

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Researchers have identified a gene that appears to increase a person’s risk of developing late-onset Alzheimer’s disease, the most common type of Alzheimer’s disease. The research will be presented as part of the late-breaking science program at the American Academy of Neurology’s 62nd Annual Meeting in Toronto, April 10 – 17, 2010. The gene, abbreviated MTHFD1L, is located on chromosome six.

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A team of researchers from the United States and Europe has identified more than a dozen genes that may play a role in the etiology of common forms of kidney disease. They examined common variations in DNA sequences in more than 65,000 individuals of European descent. Common variations in several genes were found to be more frequent among people with poor kidney function or chronic kidney disease than in those with normal kidney function.

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NYU Langone Medical Center researchers have developed a powerful new method to investigate the discrete steps necessary to turn on individual genes and examine how the process goes wrong in cancer and other diseases. The finding, based on seven years of research and described in the April 9 issue of Molecular Cell, allows scientists to investigate the unfolding of DNA, a process required for gene activation.

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Case Western Reserve University School of Medicine researchers have identified a major indicator of two deadly diseases of the heart and blood vessels: heart failure and aortic aneurysm. The absence of the Kruppel-like Factor 15 (KLF15), when combined with stress, leads to both heart failure and aortic aneurysms.

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A large international group of researchers, including Weizmann Institute scientists, recently produced the full zebra finch genome, the report on which is significant for what it reveals about learning processes for language and speech. For the Weizmann researchers, the findings provide an interesting twist on the evolution of the sense of smell.

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More than 1600 genetics researchers who use Drosophila melanogaster (the fruit fly) as the workhorse to study basic aspects of biology ranging from memory to cancer, will be gathering in Washington, DC, for the 51st Annual Drosophila Research Conference, sponsored by the Genetics Society of America, and beginning this evening at the Marriott Wardman Park. Scientists will present their research at plenary, platform, and poster sessions during this four-day meeting.

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New information about early Native Americans' horticultural practices comes not from hieroglyphs or other artifacts, but from a suite of four gene duplicates found in wild and domesticated sunflowers. Indiana University Bloomington scientists learned duplications of the gene FLOWERING LOCUS T, or FT, could have evolved and interacted to prolong a flower's time to grow. A longer flower growth period means a bigger sunflower -- presumably an attribute of value to the plant's first breeders.

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The EU-funded project MitoCheck, which started in 2004, has now been successfully rounded off. Eleven European research teams and companies, coordinated by the Research Institute of Molecular Pathology (IMP) in Vienna, studied the genetic basis of cell division. The findings are published today in the scientific journals Science and Nature.

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AMP applauds US District Judge Robert Sweet’s ruling in favor of the plaintiffs in the lawsuit, Association for Molecular Pathology, et al. v. U.S. Patent and Trademark Office, et al.

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An Agricultural Research Service (ARS) plant molecular biologist says Asian wheat may offer novel genes for shoring up the defenses of U.S. varieties against Fusarium graminearum fungi that cause Fusarium head blight disease.

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An international team of scientists, led by Washington University School of Medicine in St. Louis, has decoded the genome of a songbird – the Australian zebra finch – to reveal intriguing clues about the genetic basis and evolution of vocal learning. The research provides insights to help scientists understand how humans learn language. It also sets the stage for future studies that could help identify the genetic and molecular origins of speech disorders, such as those related to autism, stroke, stuttering and Parkinson’s disease.

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Using new one-of-a-kind “mouse models” that promise to have a significant impact on future Parkinson’s disease research, Mount Sinai School of Medicine researchers are among the first to discover how mutations in a gene called LRRK2 may cause inherited (or “familial”) Parkinson’s disease, the most common form of the disease. The study, published in The Journal of Neuroscience, is the first in vivo evidence that LRRK2 regulates dopamine transmission and controls motor performance, and that the mutation of LRRK2 eliminates the normal function of LRRK2, leading to Parkinson’s disease.

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“I think that Judge Sweet showed an impressive understanding of genetics and some of the nuances involved. I agree with him," says Jim Evans, who led an HHS task force on gene patenting and a school to teach judges about genetics.

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Genome sequencing and resulting DNA profiles may one day identify, in advance, patients who are most likely respond to chemotherapy with an aromatase inhibitor.

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Scientists may have made a discovery that could lead to higher corn yields in the United States. In research published in the March 2010 issue of the journal GENETICS, scientists used tropical maize from Mexico and Thailand to discover chromosome regions responsible for detecting seasonal changes in flowering time. This discovery may lead to higher crop yields, improved disease resistance, and heartier plants able to withstand severe weather.

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The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine.

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Plant study in Nature shows value of using genome-wide method to locate genes behind physical traits. Authors see applications for agriculture and biofuels.

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A newly developed test appears highly accurate in identifying newborns with fragile X syndrome—the most common inherited cause of cognitive impairment—as well as identifying couples who are carriers of the causative gene, reports a study in the March issue of Genetics in Medicine.

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Representatives of the media are cordially invited to attend the Genetics Society of America biennial meeting, “GENETICS 2010: Model Organisms to Human Biology,” June 12-15, 2010, at the Sheraton Boston, Massachusetts. This meeting will bring together model organism researchers and human geneticists to discuss the impact of basic research on the study of human diseases.

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A team of Agricultural Research Service (ARS) researchers has found a way to speed up grape breeding by developing a way to identify genetic markers in the grapevine’s genome that can be linked with specific traits, such as fruit quality, environmental adaptation, and disease and pest resistance.

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Pediatric researchers analyzing DNA variations in type 1 diabetes and inflammatory bowel disease have found a complex interplay of genes. Some genes have opposing effects, raising the risk of one disease while protecting against the other. In other cases, a gene variant may act in the same direction, raising the risk for both diseases.

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‘Metabolic taxation’ accounts for part of difference between fast and slow growth of animals, according to a new theory. USC marine biologists say that a study of oyster genes associated with growth suggests that fast-growing animals have better tuned ribosomal factories for making proteins.

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A better understanding of the pea aphid genome could help control agricultural pests.

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Representatives of the media are invited to attend the 51st Annual Drosophila Research Conference in Washington, DC, April 7-11, 2010, sponsored by the Genetics Society of America. More than 1600 basic research scientists who study genetic models in Drosophila (fruit flies) are expected to attend.

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A new study suggests that a gene called HuR plays a critical role in inducing and mediating an inflammatory response in cells experiencing mechanical and chemical stresses. The finding may lead to new treatments for diseases associated with inflammation, such as atherosclerosis.

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Scientists in Africa are working to develop maize hybrids that keep their genetic diversity and resistance to parasitic weeds.

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Scientists at Georgia Tech have discovered that small molecules could have acted as “molecular midwives” in helping the building blocks of life’s genetic material form long chains and may have assisted in selecting the base pairs of the DNA double helix.

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Pediatrics researchers have identified the first major gene location responsible for a severe, often painful type of food allergy called eosinophilic esophagitis (EoE). In this disease, which may cause weight loss, vomiting, heartburn and swallowing difficulties, a patient may be unable to eat a wide variety of foods.

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The Genetics Society of America announces the 2010 Yeast Genetics and Molecular Biology Meeting, July 27-August 1, 2010, at the University of British Columbia in Vancouver, Canada. This biennial meeting brings together investigators studying various aspects of eukaryotic biology in yeast. Program highlights include presentations by three Nobel Laureates and a Canadian astronaut who is also a Member of Parliament.