New work by a pioneering scientist details how subtle changes in mitochondrial function may cause a broad range of common metabolic and degenerative diseases.
A research team led by investigators at Beth Israel Deaconess Medical Center has identified an unexpected link between a transcription factor known to regulate speech and language development and metastatic colonization of breast cancer.
Heart attacks are not as connected to family history and genetics as may have been previously believed, according to a new study by researchers at the Intermountain Medical Center Heart Institute in Salt Lake City.
A research team led by scientists from the National University of Singapore (NUS) has identified several potent inhibitors that selectively target FTO, the common fat mass and obesity-associated gene.
A JAMA study found that sequencing the DNA of children with mystery genetic disorders produced a definitive diagnosis in 40 percent of UCLA’s most complex cases--a quantum leap from the field’s 5-percent success rate 20 years ago.
A team led by researchers at The Rockefeller University and the Icahn School of Medicine at Mount Sinai has explained the function of key immune protein and solved an international medical mystery, according to a letter published this week in the journal Nature.
Rochester, Minn. – The American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) offer a new guideline on how to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy. The guideline is published in the October 14, 2014, print issue of Neurology®, the medical journal of the AAN.
Scientists reveal crucial steps and surprising structures in the genesis of the enzyme that divides the DNA double helix during cell replication
SIRT6—a protein that inhibits the growth of liver and colon cancers—can promote the development of skin cancers by turning on an enzyme that increases inflammation, proliferation and survival of sun-damaged skin cells. This suggests that SIRT6 could provide a useful target for cancer prevention.
Research in zebrafish has helped identify the cause of an unknown genetic disorder affecting a boy and two of his uncles, scientists report in the journal GENETICS. The researchers tracked down a mutation carried only by the affected males and their mothers, within a gene called RPL10 . When the equivalent gene was suppressed in zebrafish, the animals developed smaller heads, which is one of the major symptoms of the human disease.
By studying a protein called beta-1,3-glucan recognition protein in the blood of a caterpillar, researchers have found a genetic mechanism that may help trigger an insect's immune system into killing pathogens in the insect's blood.
Slow-healing or non-healing bone fractures in otherwise healthy people may be caused by gene variants that are common in the population, according to Penn State College of Medicine researchers.
A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) recommends guidance on how doctors should evaluate the full picture—from symptoms, family history and ethnicity to a physical exam and certain lab test results—in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy. The guideline is published in the October 14, 2014, print issue of Neurology®, the medical journal of the American Academy of Neurology.
A new guideline recommends guidance on how doctors should evaluate the full picture in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy.
The application of a new, precise way to turn genes on and off within cells is likely to lead to a better understanding of diseases and possibly to new therapies, according to UC San Francisco scientists.
Like a marching band falling out of step, muscle cells fail to perform in unison in patients with Duchenne muscular dystrophy. Researchers reveal how this breakdown leads to the proliferation of stiff fibrotic tissue within muscles.
UI researchers have found a gene in a soil amoeba that can overcompensate for the specific mutations of a similar gene. In humans, those genetic mutations can often lead to tumor growth. Researchers are now looking for a separate human gene that could overcompensate for mutations in the same way.
The genes children inherit determine everything from their height to their hair color. But sometimes, a child’s genetic code also contains hidden abnormalities that can cause an array of health issues, such as developmental delays or physical or mental illness. Linda Randolph, MD, head of the Division of Medical Genetics at Children’s Hospital Los Angeles (CHLA) explains how a medical geneticist works “like a detective” to diagnose genetic syndromes—and put children on the path to better health.
Scientists have long theorized that the way in which the roughly three meters of DNA in a human cell is packaged to fit within a nuclear space just six microns wide, affects gene expression. Now, Whitehead Institute researchers present the first evidence that DNA structure does indeed have such effects—in this case finding a link between chromosome structure and the expression and repression of key genes.
On the 25th anniversary of discovering the cystic fibrosis gene, more than two-dozen CF innovators and clinicians, including five on the Case Western Reserve campus, took this special occasion to reflect on the discovery and the status of research and treatment during videotaped interviews.
Researchers at Children’s Hospital Los Angeles (CHLA) have described for the first time a specific perceptual learning deficit in mice with a mutation of the same gene as found in children with Fragile X Syndrome (FXS).
A new discovery suggests that the number of human genomic loci that might be coding for tRNAs is nearly double what is currently known.
Dartmouth researchers have identified nine traits that are not dependent on P values to predict single nucleotide polymorphisms (SNP) reproducibility in genome-wide association studies (GWAS).
A series of detailed genetic studies points scientists to a new way to dramatically increase the accumulation of oil in plant leaves, an abundant source of biomass for fuel production.
It’s like looking for a needle in a haystack. Scientists searching for the gene or gene combination that affects even one plant or animal characteristic must sort through massive amounts of data, according to associate professor Xijin Ge of the mathematics and statistics department at South Dakota State University. He leads a bioinformatics research group, which provides the expertise that plant and animal scientists need to uncover how genes and proteins affect cell functions. Just one experiment to analyze gene expression can produce one terabyte of sequence data, Ge explained. “That’s a little beyond many biologists' comfort zone.”
An obscure swatch of human DNA once thought to be nothing more than biological trash may actually offer a treasure trove of insight into complex genetic-related diseases such as cancer and diabetes, thanks to a novel sequencing technique developed by biologists at Texas A&M University.
The disease, which has been named "Chronic Atrial Intestinal Dysrhythmia syndrome" (CAID), is a serious condition caused by a rare genetic mutation. This finding demonstrates that heart and guts rhythmic contractions are closely linked by a single gene in the human body, as shown in a study published on October 5, 2014 in Nature Genetics.
Researchers at The University of Texas MD Anderson Cancer Center have identified a biomarker living next door to the KLK3 gene that can predict which GS7 prostate cancer patients will have a more aggressive form of cancer.
Sequencing the genomes of monarch butterflies from around the world, scientists have made surprising insights into the insect’s genetics. They identified a single gene that appears central to migration – a behavior generally regarded as complex – and another that controls pigmentation, as well as shed light on the evolutionary origins of the monarch.
– A new genetic finding from Duke Medicine suggests that some people who are prone to hostility, anxiety and depression might also be hard-wired to gain weight when exposed to chronic stress, leading to diabetes and heart disease.
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.
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