The discovery of a gene mutation that causes a rare premature aging disease could lead to the development of drugs that block the rapid, unstoppable cell division that makes cancer so deadly
The number of days an expectant mother was deprived of electricity during Quebec’s Ice Storm (1998) predicts the epigenetic profile of her child, a new study finds. Scientists from the Douglas Mental Health University Institute and McGill University have detected a distinctive ‘signature’ in the DNA of children born in the aftermath of the massive Quebec ice storm. Five months after the event, researchers recruited women who had been pregnant during the disaster and assessed their degrees of hardship and distress in a study called Project Ice Storm.
Scientists at The Scripps Research Institute (TSRI) have discovered that a gene mutation linked to hereditary spastic paraplegia, a disabling neurological disorder, interferes with the normal breakdown of triglyceride fat molecules in the brain. The TSRI researchers found large droplets of triglycerides within the neurons of mice modeling the disease.
Researchers sequence the entire genome of the Clostridium autoethanogenum bacterium, which is used to sustainably produce fuel and chemicals from a range of raw materials, including gases derived from biomass and industrial wastes.
An international research team has identified gene mutations causing severe, difficult-to-treat forms of childhood epilepsy. Many of the mutations disrupt functioning in the synapse, the junction at which nerve cells intercommunicate.
Retinoblastoma cell of origin identified in research at Children’s Hospital Los Angeles.
An intervention for pregnant women that included a computerized, interactive decision-support guide regarding prenatal genetic testing, and no cost for testing, resulted in less prenatal test use and more informed choices, according to a study in the September 24 issue of JAMA.
Published in the International Journal of Drug Policy, the study, “Perceptions of genetic testing and genomic medicine among drug users,” gauged drug users’ attitudes and understandings of genetics and genetic testing through six focus groups. The focus groups were segregated by race and ethnicity to increase participants’ comfort in talking about racial and ethnic issues. Over half of the participants (53%) reported having either HIV/AIDs or HCV, or a co-infection, and understood the potential value of genetic testing.
MicroRNA isoforms show population-specific and gender-specific signatures – a finding that could affect how researchers view and study microRNAs
How can a seemingly healthy child have a genetic disorder? Divya Vats, MD, medical director of the Newborn Screening Program at Children’s Hospital Los Angeles (CHLA) and is a staff physician at the Children’s Hospital Los Angeles-Santa Monica Outpatient Care Center explains how newborn screening works and why it can prevent lifelong disability—and even save a child’s life.
Researchers investigating gene expression in normal vestibular nerves and vestibular schwannomas (VSs) found 2 important findings: 1) there is negligible difference between VSs that sporadically occur and those commonly associated with neurofibromatosis Type 2 (NF2), a genetic disorder; and 2) the overexpressed PI3K/AKT/mTOR signaling pathway in these tumors may be an excellent therapeutic target.
CINCINNATI - Researchers have found that environment has a much stronger role than genetics in eosinophilic esophagitis (EoE), a severe, often painful food allergy that renders children unable to eat a wide variety of foods.
A novel study by the Cancer Science Institute of Singapore (CSI Singapore) at the National University of Singapore (NUS) found that an increase in a gene known as Leo1 affects other genes that are directly implicated in acute myelogenous leukaemia (AML), increasing the incidence of cancer.
Korean white winter wheat is particularly susceptible to preharvest sprouting, according to Dae Wook Kim, a scientist at National Institute of Crop Science in Suwaon, South Korea. Working with molecular biologist Jai Rohila at South Dakota State University, Kim has identified proteins which are differentially expressed in tolerant cultivars, with the goal of breeding more resistant varieties that can help increase wheat production in Korea.
The link between a protein typically associated with Alzheimer’s disease and its impact on memory and cognition may not be as clear as once thought, according to a new study from the University of Wisconsin-Madison’s Waisman Center. The researchers looked at the role of the brain protein amyloid-β in adults living with Down syndrome, a genetic condition that leaves people more susceptible to developing Alzheimer’s.
UNC scientists discover that knocking out the gene NrCAM increases the number of dendritic spines on excitatory pyramidal neurons. Other studies have confirmed that the overabundance of dendritic spines allows for too many synaptic connections – a phenomenon strongly linked to autism.
A leading Dartmouth researcher, working with The Melanoma Genetics Consortium, GenoMEL, an international research consortium, co-authored a paper published today in the Journal of the National Cancer Institute that proves longer telomeres increase the risk of melanoma.
Two independent groups of researchers led by Sidney (Wally) Whiteheart, PhD, of the University of Kentucky, and Charles Lowenstein, MD, of the University of Rochester, have published important studies exploring the role that a gene called STXBP5 plays in the development of cardiovascular disease.
New studies of ancient DNA are shifting scientists' ideas of how groups of people migrated across the globe and interacted with one another thousands of years ago. By comparing nine ancient genomes to those of modern humans, Howard Hughes Medical Institute (HHMI) scientists have shown that previously unrecognized groups contributed to the genetic mix now present in most modern-day Europeans.
In an analysis of genetic information among more than 87,000 men, a global team of scientists says it has found 23 new genetic variants – common differences in the genetic code -- that increase a man’s risk for prostate cancer. The so-called “meta-analysis,” believed to be the largest of its kind, has revealed once hidden mutations among men in a broad array of ethnic groups comprising men of European, African, Japanese and Latino ancestry.
Researchers at Moffitt Cancer Center, including Center Director Thomas A. Sellers, Ph.D., M.P.H., Jong Park, Ph.D. and Hui-Yi Lin, Ph.D., have discovered 23 new regions of the genome that influence the risk for developing prostate cancer, according to a study published Sept. 14 in Nature Genetics.
Researchers at Johns Hopkins have identified a highly sensitive means of analyzing very tiny amounts of DNA. The discovery, they say, could increase the ability of forensic scientists to match genetic material in some criminal investigations. It could also prevent the need for a painful, invasive test given to transplant patients at risk of rejecting their donor organs and replace it with a blood test that reveals traces of donor DNA.
Investigating a protein known to influence human glucose levels, scientists found that this factor has a broader reach than first thought, acting on key gene pathways involved in cardiovascular, neuropsychiatric, and cancer-related diseases.
New research shows that schizophrenia isn’t a single disease but a group of eight genetically distinct disorders, each with its own set of symptoms. The finding could be a first step toward improved diagnosis and treatment for the debilitating psychiatric illness. The research at Washington University School of Medicine in St. Louis is reported online Sept. 15 in The American Journal of Psychiatry.
A potential way to treat muscular dystrophy directly targets muscle repair instead of the underlying genetic defect that usually leads to the disease.
Investigator and Scientific Director Robb Krumlauf, Ph.D. and colleagues show that the sea lamprey Petromyzon marinus, a survivor of ancient jawless vertebrates, exhibits a pattern of gene expression that is reminiscent of its jawed cousins, who evolved much, much later.
Using a zebrafish model of a human genetic disease called neurofibromatosis, researchers have found that the learning and memory components of the disorder are distinct features that will likely need different treatment approaches.
Physicians envision a future in which genomic data from patients is heavily used to manage care — but experts have questioned the accuracy and reliability of these analyses. Now, a study by 150 researchers in 12 countries finds real strength and agreement across RNA genomic sequencing techniques and laboratories — as well as ways to improve what little variability exists to set a new high standard.
Physicians report many barriers keep them from giving patients guidance on genetic risks, disease, according to new research
More than one-quarter of young adults with the most common form of acute lymphoblastic leukemia (ALL) have a high-risk subtype with a poor prognosis and may benefit from drugs widely used to treat other types of leukemia that are more common in adults, according to multi-institutional research led by St. Jude Children’s Research Hospital investigators.
Hoping to encourage sufficient investments by pharmaceutical companies in expensive gene therapies, which often consist of a single treatment, a Penn researcher and the chief medical officer of CVS Health outline an alternative payment model.
Unexpected results from an ongoing experiment in the lab of Kristi Neufeld, Ph.D., co-leader of the Cancer Biology Program, led to a potentially important discovery that could have an impact on how cancer researchers test anti-cancer therapies in mice, and possibly prevent colon cancer in people.
The ability of pathogenic bacteria to evolve resistance to antibiotic drugs poses a growing threat to human health worldwide, and scientists have now discovered that some of our microscopic enemies may be even craftier than we suspected, using hidden genetic changes to promote rapid evolution under stress and developing antibiotic resistance in more ways than previously thought. The results appear in a new paper in the journal Biomicrofluidics.
Researchers have created a data resource that will improve genomic research in the Ashkenazi Jewish population and lead to more effective personalized medicine. The team of experts from Columbia Engineering and 10 other labs in the NYC area and Israel focused on the Ashkenazi Jewish population because of its demographic history of genetic isolation and the resulting abundance of population-specific mutations and prevalence of rare genetic disorders. The study was published on Nature Communications.
Human genes are spliced together in different ways to create various kinds of messenger RNA to produce the many proteins we require. UNC researcher Zefeng Wang, PhD, found a protein that controls how genes splice together, and it’s a protein that’s drastically decreased in cancers.
Researchers at UT Southwestern Medical Center and the Gill Center for Cancer and Blood Disorders at Children’s Medical Center, Dallas, have made significant progress in defining new genetic causes of Wilms tumor, a type of kidney cancer found only in children.
Scientists have shown that RNA produced within cells of a common budding yeast can serve as a template for repairing the most devastating DNA damage – a break in both strands of a DNA helix.
UCLA researchers were part of a team that has discovered the interplay of several genetic factors that may be involved in the development of early-onset ulcerative colitis, a severe type of inflammatory bowel disease. The early research findings in mice suggest possible new targets for prevention and treatment strategies to address the inflammation generated by early-onset ulcerative colitis. The rare disease affects infants and young children and can lead to early development of colon cancer and an increased risk of liver damage.
New research led by Charles Shoemaker, Ph.D., professor in the Department of Infectious Disease and Global Health at the Cummings School of Veterinary Medicine at Tufts University, shows that gene therapy may offer significant advantages in prevention and treatment of botulism exposure over current methods. The findings of the National Institutes of Health funded study appear in the August 29 issue of PLOS ONE.
Dartmouth researchers explored the type and number of connections in transcription factor networks (TFNs) to evaluate the role assortativity plays on robustness in a study published in PLOS Computational Biology in August. The study found that the assortativity signature contributes to a network’s resilience against mutations.
A paper from a laboratory at the Stowers Institute of Medical Research reports the first animal model created to assess the molecular effects of two different histone H3.3 mutations in the fruit fly Drosophila. The study from a team led by Investigator Ali Shilatifard, Ph.D. published in the August 29, 2014 issue of Science, strongly suggests that these mutations actually could drive cancer and identifies interacting partners and pathways that could be targeted for the treatment of cancer.
In the August 28 issue of the journal Nature a multi-institution research network called modENCODE (the Model Organism ENCylopedia Of DNA Elements) published three major papers that map and compare the genomes and epigenomes of humans and two model organisms, the fly, D. melanogaster, and the worm, C. elegans, in unprecedented detail. The fly and worm could serve as model organisms for screening drugs and micronutrients that might alter the epigenome, which is implicated in many diseases.
Scientists at The Scripps Research Institute solved the mystery of why a specific signaling pathway can be associated with alcohol dependence. The new research shows the gene, Nf1, regulates gamma-aminobutyric acid (GABA), a neurotransmitter that lowers anxiety and increases relaxation feelings.
Model allows researcher to remove false positive findings that plague modern research when many dozens of factors and their interactions are suggested to play a role in causing complex diseases.
UNC Lineberger Comprehensive Cancer Center researchers have developed a new integrated approach to pinpoint the genetic “drivers” of cancer, uncovering eight genes that could be viable for targeted breast cancer therapy.
By understanding the secret of how lizards regenerate their tails, researchers may be able to develop ways to stimulate the regeneration of limbs in humans. Now, a team of researchers from Arizona State University is one step closer to solving that mystery. The scientists have discovered the genetic “recipe” for lizard tail regeneration, which may come down to using genetic ingredients in just the right mixture and amounts.
Researchers at UT Southwestern Medical Center have found a new way that internal body clocks are regulated by a type of molecule known as long non-coding RNA.
An Indiana U. study on substance abuse found that the interplay of gender, genetics and social integration produced different outcomes for men and women.
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