In the largest, most comprehensive genetic analysis of childhood-onset inflammatory bowel disease (IBD), an international research team has identified five new gene regions, including one involved in a biological pathway that helps drive the painful inflammation of the digestive tract that characterizes the disease.
After testing behavior of mice lacking the gene, pharmacy researchers at the University of Maryland, Baltimore say it may play an important role in mood regulation.
The seeming invincibility of cancerous tumors may be crumbling, thanks to a promising new gene therapy that eliminates the ability of certain cells to repair themselves. Researchers at the Cornell University College of Veterinary Medicine have discovered that inactivation of a DNA repair gene called Hus1 efficiently kills cells lacking p53 -- a gene mutated in the majority of human cancers.
Investigators at Burnham have identified a novel mouse gene that reduces the accumulation of two toxic proteins that are major players in Alzheimer’s disease: amyloid beta and tau. Amyloid beta is responsible for the plaques found in the brains of Alzheimer’s patients. Tau causes the tangles found within patients’ brain cells.
Four macaque monkeys that received injections of genes for a protein called follistatin into upper leg muscles experienced pronounced and durable increases in muscle size and strength and no adverse effects, the Muscular Dystrophy Association (MDA) announced today. The findings could have implications particularly for injured and aging people worldwide; and for tens of millions experiencing muscle loss associated with cancer, AIDs and muscle diseases.
A team led by researchers at Albert Einstein College of Medicine of Yeshiva University has found a clear link between living to 100 and inheriting a hyperactive version of an enzyme that rebuilds telomeres – the tip ends of chromosomes. The findings appear in the latest issue of the Proceedings of the National Academy of Sciences.
If humans are genetically related to chimps, why did our brains develop the innate ability for language and speech while theirs did not? Scientists suspect that part of the answer to the mystery lies in a gene called FOXP2. When mutated, FOXP2 can disrupt speech and language in humans. Now, a UCLA/Emory study reveals major differences between how the human and chimp versions of FOXP2 work, perhaps explaining why language is unique to humans.
Some melanoma patients can live for years with cancer that has spread beyond the skin to other organs. Now it may be possible to identify which patients are more likely to survive, according to researchers at NYU Langone Medical Center.
Researchers have transplanted genetically modified hematopoietic stem cells into mice so that their developing red blood cells produce a critical lysosomal enzyme – preventing or reducing organ and central nervous system damage from the often-fatal genetic disorder Hurler’s syndrome.
While progress has been made in identifying 39 genes potentially associated with asthma, the disease is complex, and its development is likely dependent upon both genetics and environmental exposures.
An international team of researchers has decoded the genome of the domestic horse Equus caballus, revealing a genome structure with remarkable similarities to humans and more than one million genetic differences across a variety of horse breeds. In addition to shedding light on a key part of the mammalian branch of the evolutionary tree, the work also provides a critical starting point for mapping disease genes in horses.
Results of a long QT syndrome (LQTS) study published in the current issue of Circulation play an important role in understanding genetic testing’s role in diagnosing disease, according to the senior author, Michael Ackerman, M.D., Ph.D. A pediatric cardiologist at Mayo Clinic, Dr. Ackerman directs Mayo’s Long QT Syndrome Clinic and is the director of the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory.
The same genes that are chemically altered during normal cell differentiation, as well as when normal cells become cancer cells, are also changed in stem cells that scientists derive from adult cells, according to new research from Johns Hopkins and Harvard.
In the most comprehensive study of animal evolution ever attempted, an international consortium of scientists plans to assemble a genomic zoo--a collection of DNA sequences for 10,000 vertebrate species, approximately one for every vertebrate genus.
Researchers at the University of Maryland are using the fruit fly, Drosophila melanogaster, as a model system to unravel what genes and gene pathways are involved in the metabolic changes that lead to insulin resistance and full-blown diabetes in humans.
Thomas Vaughan, M.D., head of the Epidemiology Program in the Public Health Sciences Division of Fred Hutchinson Cancer Research Center, has received a three-year, $7.9 million grant from the National Cancer Institute to study genetic susceptibility for Barrett’s esophagus and esophageal adenocarcinoma, a rapidly fatal cancer whose incidence has increased more than 500 percent in the past 30 years, faster than any other cancer in the United States.
Like all tissues in the body, the eye needs a healthy blood supply to function properly. Poorly developed blood vessels can lead to visual impairment or even blindness. While many of the molecules involved in guiding the development of the intricate blood vessel architecture are known, only now are we learning how these molecules work and how they might affect sight. Reporting in the Oct. 16 issue of Cell, researchers at the Johns Hopkins School of Medicine find that when some cells in the mouse retina are not properly fed by blood vessels, they can remain alive for many months and can later recover some or all of their normal function, suggesting that similar conditions in people may also be reversible.
Since the completion of the human genome sequence, a question has baffled researchers studying gene control: How is it that humans, being far more complex than the lowly yeast, do not proportionally contain in our genome significantly more gene-control proteins?
Scientists have identified how the motions of an enzyme are related to correctly copying genetic instructions, setting the stage for studies that can uncover what happens when DNA copying mistakes are made.
University of Alabama at Birmingham (UAB) researchers are close to unraveling intricate cellular pathways that control molting in blue crabs. The discoveries could revolutionize the soft-shell crab industry, generating new jobs and additional profits for the U.S. fishing industry along the coastal Southeast.
An expert in cancer proteomics at Fred Hutchinson Cancer Research Center has received $4.8 million in federal stimulus funding from the National Cancer Institute to co-lead a pilot study to assess the feasibility and scalability of a project that aims to measure all of the proteins in the human body.
Spend a little time people-watching at the beach and you're bound to notice differences in the amount, thickness and color of people's body hair. Then head to the zoo and compare people to chimps, our closest living relatives.
Columbia University will award the 2009 Louisa Gross Horwitz Prize to longtime collaborators Victor R. Ambros, Ph.D. and Gary Ruvkun, Ph.D., for their discovery of microRNAs (miRNAs) – small molecules that are critical to gene regulation.
Research, led by St. Jude, has identified a new chromosomal abnormality in acute lymphoblastic leukemia (ALL) that appears to work in concert with another mutation to give rise to cancer.
A genetic mutation found in four children born with multiple abnormalities may provide insight into potential treatments for newborn lung distress and chronic obstructive pulmonary disease.
UNC's Morgan Giddings, Ph.D. and Xian Chen, Ph.D., have been awarded a $1.6 million 2-year “Grand Opportunities” (GO) grant from the National Human Genome Research Institute to accelerate this research. Their effort will be part of a consortium of investigators studying the human genome blueprint, titled the “ENCyclopedia Of DNA Elements” (ENCODE). The consortium’s overall goal is to assemble a comprehensive catalog of functional elements in the human genome.
A study conducted at St. Michael’s Hospital, Toronto, the University of Toronto, and Imperial College London, Toronto, shows that a link between a breast cancer gene mutation and heart disease could be a key in the creation of new heart disease treatments and in the treatment of patients currently undergoing treatment for cancer.
Although the human genome sequence faithfully lists (almost) every single DNA base of the roughly 3 billion bases that make up a human genome, it doesn’t tell biologists much about how its function is regulated. Now, researchers at the Salk Institute provide the first detailed map of the human epigenome, the layer of genetic control beyond the regulation inherent in the sequence of the genes themselves.
The Association for Molecular Pathology (AMP) provided comments at the SACGHS meeting on Oct. 8. AMP opposes the patenting of all naturally occurring genetic material and has signed on as a lead plaintiff in the ACLU case challenging Myriad Genetics’ patents on the BRCA 1 and BRCA 2 genes.
Researchers are working to determine if marker genes may help determine the possible effectiveness of GIST-targeted molecular treatment, according to a study presented at the 2009 Clinical Congress of the American College of Surgeons.
An international coalition of physicians and scientists, led by Huntsman Cancer Institute (HCI) at the University of Utah, has proposed guidelines for the first time concerning genetic testing for melanoma patients.
A sophisticated computational algorithm, applied to a large set of gene markers, has achieved greater accuracy than conventional methods in assessing individual risk for type 1 diabetes. The technique, applied to appropriate complex multigenic diseases, may improve prospects for personalizing medicine to an individual’s genetic profile.
In one of the first studies of its kind, an international team of researchers has uncovered a single-letter change in the genetic code that is associated with autism. The finding, published in the October 8 issue of the journal Nature, implicates a neuronal gene not previously tied to the disorder and more broadly, underscores a role for common DNA variation.
About 90 percent of autism spectrum disorders have suspected genetic causes but few genes have been identified so far. Now, leading an international team, Johns Hopkins researchers have identified several genetic links to autism, chief among them a variant of semaphorin 5A, whose protein product controls nerve connections in the brain.
A Florida State University College of Medicine researcher has solved a century-old mystery about proteins that play a vital role in the transfer of the human genetic code from one cell to another. The discovery could lead to finding new ways to help the body fight a variety of diseases, including cancer.
The Cancer Genome Atlas (TCGA) will fund an effort by scientists at The University of Texas M. D. Anderson Cancer Center to siphon buckets of meaningful information from an ocean of data about the aberrant genetics that drive human cancers.
Results from the largest ever twin study confirms that genetics play a role in autism spectrum disorders (ASDs), but also suggest that environmental factors play a role. The study examined concordance rates between identical and fraternal twins and was published in the October issue of Archives of Pediatrics and Adolescent Medicine.
Virginia Commonwealth University researchers have identified the role of a gene in regulating molecular signals involved with ovarian follicle development, which may one day help shed light on some of the causes of fertility issues in humans.
University of Maryland biologists have genetically mapped the sex chromosomes of several species of cichlid (pronounced "sick-lid") fish from Lake Malawi, East Africa, and identified a mechanism by which new sex chromosomes may evolve.
Johns Hopkins’ Center for the Epigenetics of Common Human Disease has been chosen as one of four recipients of a $45 million National Institutes of Health (NIH) grant for Centers of Excellence to advance genomics research. The Hopkins Center will receive $16.8 million over five years.
The National Human Genome Research Institute (NHGRI) of the National Institutes of Health today announced an $8 million, three-year grant to establish a Wisconsin Center of Excellence in Genomics Science. The new Center is a collaborative effort between the University of Wisconsin in Madison, The Medical College of Wisconsin, and Marquette University, and will be coordinated by the Medical College of Wisconsin.
UCLA scientists have identified two chemicals that convince cells to ignore premature signals to stop producing important proteins. The findings could lead to new medications for genetic diseases, such as cancer and muscular dystrophy, that are sparked by missing proteins.
A team of researchers from Thomas Jefferson University and the University of Delaware have received a grant from the Department of Defense to create a three-dimensional patient imaging system that will allow surgeons to view and touch selected organs and tissues prior to surgery.
In a study published in the September 24th issue of Nature, an international team describes how they harnessed modern genomic technology to explore the ancient history of India, the world’s second most populous nation.
A University of Oregon research team has found that evolution can never go backwards, because the paths to the genes once present in our ancestors are forever blocked. The findings come from the first rigorous study of reverse evolution at the molecular level.
An international team, led by researchers from the University of California, San Diego School of Medicine and the National Eye Institute, has discovered gene variants for glaucoma in a black population. The finding could lead to future treatments or a cure for this disease, which leads to blindness in two million Americans each year.
1) Data Mining to Redesign Critical Care Services; 2) Zebrafish Genetics; 3) Diabetes and Heart Damage — an iPS Cell Approach; 4) Brain Cancer: Angling for its Origins.
Genes previously known to be essential to the coordinated, rhythmic electrical activity of cardiac muscle -- a healthy heartbeat -- have now also been found to play a key role in thyroid hormone (TH) biosynthesis, according to Weill Cornell Medical College researchers.
More than seventy percent of people who contract Hepatitis C will live with the virus that causes it for the rest of their lives and some will develop serious liver disease including cancer. However, 30 to 40 percent of those infected somehow defeat the infection and get rid of the virus with no treatment. In this week’s Advanced Online Publication at Nature, Johns Hopkins researchers working as part of an international team report the discovery of the strongest genetic alteration associated with the ability to get rid of the infection.
Using yeast genetics and a novel scheme to selectively remove a single protein from the cell division process called meiosis, a cell biologist at The Florida State University found that when a key molecular player known as Pds5 goes missing, chromosomes fail to segregate and pair up properly, and birth defects such as Down syndrome can result.
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