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CUMC researchers identify new neurodevelopmental syndrome

A multicenter research team led by Columbia University Medical Center has discovered a new neurodevelopmental syndrome and the genetic mutations that cause it. The discovery is an important step toward creating targeted therapies for individuals with this syndrome, which causes severe developmental delays, abnormal muscle tone, seizures, and eye complications.

22 Apr 2016

Scientists identify genetic mechanisms behind development of myopia

Myopia, also known as short-sightedness or near-sightedness, is the most common disorder affecting the eyesight and it is on the increase. The causes are both genetic and environmental.

22 Apr 2016

Researchers use highly accurate biomarker to measure aging in HIV infected patients

Thanks to combination antiretroviral therapies, many people with HIV can expect to live decades after being infected. Yet doctors have observed these patients often show signs of premature aging.

22 Apr 2016

Subtle changes in protein-coding gene may cause different genetic disorders

It has been disorienting to the scientific and medical community as to why different subtle changes in a protein-coding gene causes many different genetic disorders in different patients -- including premature aging, nerve problems, heart problems and muscle problems. no other gene works like this. According to a new study, co-authored by Binghamton University faculty Eric Hoffman, it has to do with cell "commitment."

22 Apr 2016

Infected mice can be better models for human diseases

Vaccines and therapeutics developed using mice often don't work as expected in humans. New research at Washington University School of Medicine in St. Louis points to the near-sterile surroundings of laboratory mice as a key reason.

21 Apr 2016

Researchers find new insights on disease stages for gastric cancer patients

Diagnosis of gastric cancer in the early stages is difficult because of the lack of simple and cheap methods of inspection and specific markers of gastric cancer while the symptoms of the disease are vague and tend to overlap with other common and benign conditions. Better tumor characterization and more individualized treatment planning can be expected only with the implementation of better diagnostic tools combined with advances in molecular and genetic analysis.

21 Apr 2016

Bacteria-derived gut metabolites can affect brain’s myelin content and induce depression-like symptoms

Specific combinations of gut bacteria produce substances that affect myelin content and cause social avoidance behaviors in mice, according to a study conducted at the Icahn School of Medicine at Mount Sinai and published today in the medical journal eLife. This research suggests that targeting intestinal bacteria, or their metabolites, could be one way to treat debilitating psychiatric disorders and demyelinating diseases, like multiple sclerosis.

21 Apr 2016

Clinical study shows watercress extract inhibits carcinogen activation in cigarette smokers

Watercress extract taken multiple times a day significantly inhibits the activation of a tobacco-derived carcinogen in cigarette smokers, researchers at the University of Pittsburgh Cancer Institute, partner with UPMC Cancer Center, demonstrated in a phase II clinical trial presented today at the American Association for Cancer Research Annual Meeting in New Orleans.

21 Apr 2016

TNF-alpha protein involved in autoimmune diseases may also promote tissue healing

As its name suggests, inflammatory bowel disease, which afflicts more than 1.6 million Americans, involves chronic inflammation of all or some of the digestive tract. An autoimmune disease known to have a strong genetic component, its symptoms are abdominal cramps, bloody diarrhea, and fever and, sometimes, weight loss. IBD, which is a group of inflammatory conditions, includes Crohn's disease and ulcerative colitis.

21 Apr 2016

Novel method could help analyze GWAS results for sporadic diseases

Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies can contribute to sporadic Parkinson's disease (PD). The approach could be used to analyze GWAS results for other sporadic diseases with genetic causes, such as multiple sclerosis, diabetes, and cancer.

21 Apr 2016

Novel gene therapy can improve symptoms of Bubble Boy disease in young adults

Adolescents and young adults with a severe inherited immunodeficiency disorder improved following treatment with novel gene therapy developed at St. Jude Children's Research Hospital and at the National Institute of Allergy and Infectious Diseases, part of the National Institutes of Health. The results of this study appear today in the journal Science Translational Medicine.

21 Apr 2016

Climate change, global travel may increase dengue epidemic risk

Researchers at Umea University have developed a model for evidence-based predictions of the mosquito-borne dengue virus. Results show that global travel and climate change increase the risk for epidemics of dengue, and potentially other climate-sensitive infectious diseases carried by mosquitos, spreading into temperate areas. This according to a doctoral dissertation at Umeå University.

21 Apr 2016

Scientists identify genetic variants that may influence wellbeing, depression and neuroticism

An international group of more than 190 scientists who analyzed the genomes of 298,420 individuals have found genetic variants that may influence our sense of wellbeing, depression and neuroticism.

21 Apr 2016

New diagnostic approach may help physicians more efficiently screen for dementia

A tiered diagnostic approach that incorporates clinical, imaging and laboratory data may help physicians more efficiently screen for neurodegenerative disorders such as dementia, according to the consensus of a multi-disciplinary panel of experts.

From Quest Diagnostics 21 Apr 2016

LAP defects may lead to lupus-like autoimmune disorder

A casual observation about size differences in mice has led to the discovery that defects in a process for digesting dead cells called LC3-associated phagocytosis (LAP) may lead to a lupus-like autoimmune disorder. St. Jude Children's Research Hospital scientists led the research, which appears as an advance online publication today in the scientific journal Nature.

21 Apr 2016

Study finds links between phthalate exposure and obesity

Exposure to chemicals found in everyday products could affect the amount of fat stored in the body, according to a study by University of Georgia researchers.

21 Apr 2016

Scientists discover CD2AP protein that plays key role in nervous system

University of Louisville researchers have discovered that a protein previously known for its role in kidney function also plays a significant role in the nervous system. In an article featured in the April 13 issue of the Journal of Neuroscience, they show that the adaptor protein CD2AP is a key player in a type of neural growth known as collateral sprouting.

21 Apr 2016

Researchers discover new, previously underappreciated role for immature dentate gyrus granule cells

University of Alabama at Birmingham researchers have proposed a model that resolves a seeming paradox in one of the most intriguing areas of the brain -- the dentate gyrus.

20 Apr 2016

Two Ebola vaccine candidates show promise in clinical trial

An immunization regimen using two Ebola vaccine candidates was safe and well-tolerated and induced an immune response in healthy adult volunteers in a Phase 1 clinical trial.

20 Apr 2016

Experimental treatment shrinks rare pediatric tumor by 90%

When a baby's life was threatened by a rare pediatric cancer that would not respond to surgery or chemotherapy, doctors at Nemours Children's Hospital rapidly, successfully shrank the tumor by 90 percent using an experimental treatment, according to a new study published online in Pediatric Blood and Cancer.

20 Apr 2016