Feature Channels: Genetics

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Research by scientists at Albert Einstein College of Medicine may help explain how some cases of autism spectrum disorder (ASD) can result from environmental influences rather than gene mutations. The findings, published online today in PLOS Genetics, shed light on why older mothers are at increased risk for having children with ASD and could pave the way for more research into the role of environment on ASD.

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Scientists have developed a powerful tool called pVAAST that combines linkage analysis with case control association to identify disease-causing mutations in families faster and more precisely than ever before.

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In any animal’s lifecycle, the shift from egg cell to embryo is a critical juncture that requires a remarkably dynamic process that ultimately transforms a differentiated, committed oocyte to a totipotent cell capable of giving rise to any cell type in the body. The lab of Whitehead Member Terry Orr-Weaver conducted perhaps the most comprehensive look yet at changes in translation and protein synthesis during a developmental change, using the oocyte-to-embryo transition in Drosophila as a model system.

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Striving for the protein equivalent of the Human Genome Project, researchers created an initial catalog of the human “proteome,” or all of the proteins in the human body. The team identified proteins encoded by 17,294 genes, about 84 percent of all of the genes in the human genome. They also found 193 proteins that were not predicted to exist.

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The overall number and nature of mutations—rather than the presence of any single mutation—influences an individual’s risk of developing schizophrenia, as well as its severity, according to a discovery by Columbia University Medical Center researchers. The findings could have important implications for the early detection and treatment of schizophrenia.

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A genetic variant linked to sudden cardiac death leads to protein overproduction in heart cells, Johns Hopkins scientists report. Unlike many known disease-linked variants, this one lies not in a gene but in so-called noncoding DNA, a growing focus of disease research. The discovery also adds to scientific understanding of the causes of sudden cardiac death and of possible ways to prevent it, the researchers say.

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“Aha” moments are rare in medical research, scientists say. As rare, they add, as finding mice with Mohawk-like hairstyles. But both events happened in a lab at NYU Langone Medical Center, months after an international team of neuroscientists bred hundreds of mice with a suspect genetic mutation tied to autism spectrum disorders.

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A new approach to studying microbes in the wild will allow scientists to sequence the genomes of individual species from complex mixtures. It marks a big advance for understanding the enormous diversity of microbial communities —including the human microbiome. The work is described in an article published May 22 in Early Online form in the journal G3: Genes|Genomes|Genetics, published by the Genetics Society of America.

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Researchers have discovered how a gene commonly linked to obesity—FTO—contributes to weight gain. The study shows that variations in FTO indirectly affect the function of the primary cilium, a little-understood hair-like appendage on brain and other cells. Specific abnormalities of cilium molecules, in turn, increase body weight, in some instances, by affecting the function of receptors for leptin, a hormone that suppresses appetite. The findings, made in mice, suggest that it might be possible to modify obesity through interventions that alter the function of the cilium, according to scientists at Columbia University Medical Center.

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Australia can no longer lay claim to the origins of the iconic New Zealand kiwi following University of Adelaide research published in the journal Science today showing the kiwi’s closest relative is not the emu as was previously thought.

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For most people, the urge to eat a meal or snack comes at a few, predictable times during the waking part of the day. But for those with a rare syndrome, hunger comes at unwanted hours, interrupts sleep and causes overeating.

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A group of 11 genes can successfully predict whether an individual is at increased risk of alcoholism, a research team from the United States and Germany reports

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Bacteria that naturally live in the soil have a vast collection of genes to fight off antibiotics, but they are much less likely to share these genes, a new study by researchers at Washington University School of Medicine in St. Louis has revealed

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Findings on the genetic blueprint of the relatively primitive dampwood termite highlight key differences and similarities with other social insects like ants, wasps and bees, and provide insight into how social insects evolved.

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The ability to transfer a gene or DNA sequence from one animal into the genome of another plays a critical role in a wide range of medical research—including cancer, Alzheimer’s disease, and diabetes, and now there’s a way to avoid cell death when introducing DNA into egg cells. In Review of Scientific Instruments, the team describes its microelectromechanical system nanoinjector, which was designed to inject DNA into mouse zygotes.

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A group of researchers led by Johns Hopkins scientists say they have identified a genetic marker that may be associated with the development of obsessive-compulsive disorder (OCD), whose causes and mechanisms are among the least understood among mental illnesses.

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Researchers have discovered a new gene expression mechanism in porcine reproductive and respiratory syndrome, or PRRS, virus — an important swine pathogen that costs the U.S. pork industry more than $600 million a year. The discovery provides a new avenue for scientists to explore strategies to control and prevent the disease.

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Using next generation DNA sequencing, Dartmouth scientists have identified potentially actionable mutations in cancers of the appendix. When specific mutations for a cancer type are identified, patients can be treated with chemotherapy or other targeted agents that work on those mutations.

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Two genes work together to drive the most lethal forms of prostate cancer, according to new research from the Herbert Irving Comprehensive Cancer Center at Columbia University Medical Center. These findings could lead to a diagnostic test for identifying those tumors likely to become aggressive and to the development of novel combination therapy for the disease.

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Whitehead Institute scientists have identified a genetic cause of a facial disorder known as hemifacial microsomia (HFM). The researchers find that duplication of the gene OTX2 induces HFM, the second-most common facial anomaly after cleft lip and palate.

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St. Jude Children’s Research Hospital scientists studying two rare, inherited childhood neurodegenerative disorders have identified a new, possibly common source of DNA damage that may play a role in other neurodegenerative diseases, cancer and aging. The findings appear in the current issue of the scientific journal Nature Neuroscience.

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A new method for isolating and genome sequencing an individual malaria parasite cell has been developed by Texas Biomed researchers in San Antonio and their colleagues. This advance will allow scientists to improve their ability to identify the multiple types of malaria parasites infecting patients and lead to ways to best design drugs and vaccines to tackle this major global killer.

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A scientific team led by the Gladstone Institutes and UC San Francisco has discovered that a common form of a gene already associated with long life also improves learning and memory, a finding that could have implications for treating age-related diseases like Alzheimer’s.

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A study identifies a new molecular circuit that controls longevity in yeast and more complex organisms and suggests a therapeutic intervention that could mimic the lifespan-enhancing effect of caloric restriction, no dietary restrictions necessary. The team looked for answers in the ISW2 protein, and found that its absence alters gene expression involved in DNA damage protection. Deletion of ISW2 increases the expression and activity of genes in DNA-damage repair pathways –also seen in calorie restriction.

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Scripps Research Institute scientists have engineered a bacterium whose genetic material includes an added pair of DNA “letters,” or bases, not found in nature; the bacterium’s cells can replicate the unnatural DNA bases more or less normally, as long as the molecular building blocks are supplied.

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The power of genome-wide association studies (GWAS) to detect genetic influences on human disease can be substantially increased using a statistical testing framework reported in the May issue of the journal GENETICS.

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A team of scientists at the University of California, San Diego School of Medicine and in China describe a new benchtop semiconductor sequencing procedure and newly developed bioinformatics software tools that are fast, accurate, portable, less expensive and can be completed without harm to mother or fetus.

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Researchers have discovered that the protein BiP plays a key role in a genetic mutation that is affiliated with early onset torsion dystonia. Their findings may lead to the first universal treatment for the neurological disorder, which affects nearly half a million Americans.

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Researchers at the University of California, San Diego School of Medicine have discovered a genetic risk factor for premature birth. The risk factor is related to a gene that codes for a protein that the scientists have found helps the body’s immune cells recognize and fight Group B Streptococcus (GBS) bacteria.

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In November 2013, the U.S. Food and Drug Administration (FDA) ordered the company 23andMe to stop offering its direct-to-consumer DNA testing service, which provided individuals with $99 assessments of their genetic risk for almost 200 disorders. A thought-stimulating opinion piece published in Clinical Chemistry, the journal of AACC, now examines whether this move by FDA is a violation of the First Amendment, or a necessary step to protect consumers.

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In the largest family study on autism spectrum disorder (ASD) to date, researchers from the Icahn School of Medicine at Mount Sinai, along with a research team from the Karolinska Institutet in Stockholm Sweden and King’s College in London found that individual risk of ASD and autistic disorder increased with greater genetic relatedness in families – that is, persons with a sibling, half-sibling or cousin diagnosed with autism have an increased likelihood of developing ASD themselves. Furthermore, the research findings showed that “environmental” factors unique to the individual (birth complications, maternal infections, etc.) were more of a determinant for ASD than previously believed.

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In two separate studies, vision scientists have developed healthy genes to prevent blinding diseases that stem from genetic defects. The research is being presented at the 2014 Annual Meeting of the Association for Research in Vision and Ophthalmology (ARVO) this week in Orlando, Fla

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A new study by researchers at the University of California, San Diego School of Medicine, with colleagues in Norway, significantly refines the association, highlighting genetic risk factors associated with low density lipoprotein (LDL) cholesterol and triglycerides as key players and identifying 17 related gene loci that make risk contributions to levels of these blood lipids and to prostate cancer.

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To solve a puzzle, you need to recognize shapes, patterns and a particular kind of order. In much the same way, researchers at McGill University have discovered that the 3D shape of a leukemia cell’s genome holds a key to solving the puzzle of human diseases. The researchers report their findings in the open access journal Genome Biology.

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Biogeographical data is useful in screening for disease risk and drug sensitivity associated with certain ethnic groups. A team of researchers, including an investigator from Children’s Hospital Los Angeles, has developed a tool to accurately identify the biogeography of worldwide individuals.

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Many African-American children do not get the recommended amount of calcium in their diet. A new study shows African American children with a genetic predisposition to diabetes may mitigate their risk by getting more calcium.

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Investigators at Beth Israel Deaconess Medical Center report a new mechanism by which BRCA gene loss may accelerate cancer-promoting chromosome rearrangements.

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Mayo Clinic researchers have uncovered a novel tumor suppressive role for p53, a cancer-critical gene that is mutated in more than half of all cancers found in humans.

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Scientists at Icahn School of Medicine at Mount Sinai, along with collaborators at institutions in India, Italy, and Japan, have identified the first gene linked to childhood-onset familial dilated cardiomyopathy (DCM), one of the most common heart muscle diseases in children. It is a progressive and potentially fatal heart condition resulting from an enlarged and weakened heart muscle.

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By studying the reproductive cells of nematodes – tiny worms found in soil and compost bins – Shawn Ahmed, PhD, an associate professor of genetics, identified the Piwi/piRNA genome silencing pathway, the loss of which results in infertility after many generations. He also found a signaling pathway – a series of molecular interactions inside cells – that he could tweak to overcome infertility while also causing the worms to live longer adult lives.

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Scientists have known that abnormal brain growth is associated with autism spectrum disorder. However, the relationship between the two has not been well understood.

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There’s a civil war going on inside every one of the 37 trillion cells in your body. Now, scientists have uncovered how your cells keep this war from causing too much collateral damage.

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A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world.

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Although our chromosomes are relatively stable within our lifetimes, the genetic material found in our mitochondria is highly variable across individuals and may impact upon human health, say researchers at the University of Montreal and its affiliated CHU Sainte-Justine Hospital.

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Ever since it was first identified more than 15 years ago, the PTEN gene has been known to play a key role in preventing the onset and progression of numerous cancers. New research from Beth Israel Deaconess Medical Center helps explain how.

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A newly identified genetic disorder associated with degeneration of the central and peripheral nervous systems in humans, along with the genetic cause, is reported in the April 24, 2014 issue of Cell.

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Newswise is offering reporters a behind-the-scenes look at the state of the research and the impact it might have on global public health by interacting with two leading scientists in the field and an author who has investigated the research for over a decade. With all the elements of a great story, the search for healthful human longevity sheds light on discoveries that could fundamentally reshape human life.

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A new book from bioethicists at Johns Hopkins and Columbia Universities uses dramatic narratives as an accessible gateway to the complex ethical issues of integrating genomics and healthcare.

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The human Y chromosome has over the course of millions of years of evolution has preserved a small set of genes that has ensured not only its own survival but also the survival of men. Moreover, the vast majority of these tenacious genes appear to have little if any role in sex determination or sperm production. Taken together, these remarkable findings suggest that because these Y-linked genes are active across the body, they may actually be contributing to differences in disease susceptibility and severity observed between men and women.

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Test analyzing cells’ ability to fix different kinds of broken DNA could help doctors predict cancer risk.