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Study reveals how one mutation causes the most common inherited intellectual disability

Research published today (Feb. 11, 2019) reveals how one mutation causes fragile X, the most common inherited intellectual disability.

12 Feb 2019

Rare gene mutations associated with colorectal cancer also cause breast cancer

Rare mutations in the NTHL1 gene, previously associated with colorectal cancer, also cause breast cancer and other types of cancer.

12 Feb 2019

Ultra-processed foods are harming your health

A new study from French researchers has shown that diets comprising of “ultra-processed” foods are raising the risk of an early death.

11 Feb 2019

Early human testing of iron chelation after brain bleed shows mixed results

A drug that removes excess iron and toxins from the body after a brain bleed did not show significant improvement in recovery or neurological function at three months after intracerebral hemorrhage (stroke), but showed some benefits at six months, according to late breaking science presented at the American Stroke Association's International Stroke Conference 2019, a world premier meeting for researchers and clinicians dedicated to the science and treatment of cerebrovascular disease.

11 Feb 2019

RNAs are involved in protein aggregation and neurodegenerative diseases, research reveals

New research reveals RNAs, which are crucial for cells to produce proteins, are also involved in protein aggregation, where proteins do not fold properly and 'clump' together into aggregates. If cells cannot clear these away, they become toxic and prevent cells working properly.

8 Feb 2019

Vilcek Foundation prizes awarded to immigrants for their work on human biology and disease

The Vilcek Foundation is pleased to announce the winners of the 2019 Vilcek Foundation Prizes for Biomedical Science, awarded to immigrants who have made significant contributions to the field. Dr. Angelika Amon will receive the $100,000 Vilcek Prize, while Drs. Amit Choudhary, Jeanne T. Paz, and Mikhail G. Shapiro will each receive the $50,000 Vilcek Prize for Creative Promise.

8 Feb 2019

Researchers map an awake-brain

There are ethical dilemmas in cases where a person is unresponsive after a major trauma but is awake within (unresponsive wakefulness syndrome) and when a person is brain dead or truly unconscious. In these cases stopping life support can be a tough decision.

7 Feb 2019

Study finds underutilization of aspirin to prevent colorectal cancer in high risk patients

Colorectal cancer is the third most common cause of cancer deaths in the United States and advanced colorectal polyps are a major risk factor.

7 Feb 2019

Mutations in folliculin gene affect embryo implantation

New information is unfolding on the genetic controls of an early turning point in pregnancy. As the tiny, dividing cell mass, the blastocyst, travels from the oviduct and lodges in the wall of the uterus, the cells must exit their pre-implantation state and be ready for post-implantation development.

7 Feb 2019

High-risk sexually transmitted HPV may increase risk of cardiovascular disease

Infection with high-risk strains of the human papillomavirus, which have been linked to cancer, might increase the risk of heart and blood vessel or cardiovascular disease, especially among women with obesity or other cardiovascular risk factors, according to new research in Circulation Research, an American Heart Association journal.

7 Feb 2019

Insufficient sleep mirrored by DNA from blood leukocytes

An insufficient amount of sleep and qualitatively poor sleep are common among the general population. Prior studies have indicated that prolonged insufficient sleep and poor sleep quality are associated with a heightened risk of cardiovascular diseases, dementia and psychiatric disorders, particularly depression, yet the molecular mechanisms underlying this connection are not well known.

7 Feb 2019

Fibromyalgia syndrome in adults may be a consequence of childhood sexual abuse

A new Tel Aviv University study finds that fibromyalgia syndrome -- a chronic condition characterized by widespread pain, fatigue and cognitive difficulties -- may be a consequence of post-traumatic physical and psychological distress associated with childhood sexual abuse.

7 Feb 2019

Zebrafish offers clue to alleviate gastrointestinal distress related to autism

University of Miami researchers have discovered a clue in the humble zebrafish's digestive tract that, one day, could help people on the autism spectrum alleviate one of the most common yet least studied symptoms of their disorder: gastrointestinal distress.

7 Feb 2019

NSAID pretreatment promotes cardiorenal syndrome in heart failure

Non-steroidal anti-inflammatory drugs, or NSAIDs, are widely known as pain-killers and can relieve pain and inflammation. However, prolonged use raises the risk of heart and kidney failure events. A heart attack causes death of heart muscle cells by lack of oxygen, and it also significantly injures the kidneys.

7 Feb 2019

Cannabinoid receptor type 1 appears to be potential target to treat Down syndrome

A study by the Neuropharmacology Laboratory-NeuroPhar of the Department of Experimental and Health Sciences at UPF reveals the involvement of the endocannabinoid system in cognitive disorders in mouse models of Down syndrome.

7 Feb 2019

New study pinpoints how fibrosis develops in butterfly syndrome patients

Children with a grave skin disorder known as butterfly syndrome develop severe and chronic blisters. Fibrosis, the thickening and scarring of connective tissues, is a major complication of the disease.

7 Feb 2019

Different characteristics associated with depression before and after giving birth

Depression during pregnancy and following childbirth (perinatal depression) is a common and potentially severe condition. In a Journal of Neuroscience Research study, researchers examined subgroups of women followed from pregnancy to six months postpartum, for example comparing those with depression only after childbirth with those experiencing depression during pregnancy.

6 Feb 2019

Advanced scan shows brain inflammation related to post-treatment Lyme disease syndrome

More than 1 in 10 people successfully treated with antibiotics for Lyme disease go on to develop chronic, sometimes debilitating, and poorly understood symptoms of fatigue and brain fog that may last for years after their initial infection has cleared up.

6 Feb 2019

Chloroplast retrograde signaling attenuates elongation response to shade in plants

Plants need sunlight to feed and grow. Without light, the photosynthesis, the reaction by which the plant chloroplasts convert atmospheric CO2 and water into sugars and oxygen, cannot take place.

6 Feb 2019

Researchers describe first case of patient affected by dysfunctions in SLC28 gene family

A research team has described the first case of a patient affected by dysfunctions in a nucleoside transporter of the SLC28 gene family, which brings a set of genes which were not related to human pathologies in the scientific bibliography so far.

5 Feb 2019

Syndrome News and Research

Study reveals how one mutation causes the most common inherited intellectual disability

Rare gene mutations associated with colorectal cancer also cause breast cancer

Ultra-processed foods are harming your health

Early human testing of iron chelation after brain bleed shows mixed results

RNAs are involved in protein aggregation and neurodegenerative diseases, research reveals

Vilcek Foundation prizes awarded to immigrants for their work on human biology and disease

Researchers map an awake-brain

Study finds underutilization of aspirin to prevent colorectal cancer in high risk patients

Mutations in folliculin gene affect embryo implantation

High-risk sexually transmitted HPV may increase risk of cardiovascular disease

Insufficient sleep mirrored by DNA from blood leukocytes

Fibromyalgia syndrome in adults may be a consequence of childhood sexual abuse

Zebrafish offers clue to alleviate gastrointestinal distress related to autism

NSAID pretreatment promotes cardiorenal syndrome in heart failure

Cannabinoid receptor type 1 appears to be potential target to treat Down syndrome

New study pinpoints how fibrosis develops in butterfly syndrome patients

Different characteristics associated with depression before and after giving birth

Advanced scan shows brain inflammation related to post-treatment Lyme disease syndrome

Chloroplast retrograde signaling attenuates elongation response to shade in plants

Researchers describe first case of patient affected by dysfunctions in SLC28 gene family

Bringing real-time analytics to downstream bioprocess monitoring

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

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