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Precision medicine can determine the best drug treatment for severe heart disease

Is personalized medicine cost-effective? University of Alabama at Birmingham researcher Nita Limdi, Pharm.D., Ph.D., and colleagues across the United States have answered that question for one medical treatment.

15 May 2020

New study sheds light on the cause of stem cell mutations

Research from the University of Sheffield has given new insight into the cause of mutations in pluripotent stem cells and potential ways of stopping these mutations from occurring.

15 May 2020

CSHLP Press releases new book on heart development and disease

Cold Spring Harbor Laboratory Press (CSHLP) announced the release of Heart Development and Disease, available on its website in hardcover and eBook formats.

15 May 2020

Does vitamin D deficiency increase COVID-19 risk?

A new paper published on the preprint server medRxiv* in May 2020 reports the first evidence that vitamin D deficiency and inadequate treatment could increase the chances of testing positive for COVID-19. This could shape the way for screening individuals at risk for vitamin D deficiency.

14 May 2020

New insights into SARS-CoV-2 viral diversity

The first comprehensive, large-scale analysis available on the preprint server bioRxiv attempted to identify specific genomic signatures of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) strains within and across individual hosts – revealing recombination events, specific geographic profiles, as well as multi-strain and/or superinfections characteristic for the coronavirus disease (COVID-19) pandemic.

14 May 2020

Reductive stress is intolerable, can induce heart failure

Many heart diseases are linked to oxidative stress, an overabundance of reactive oxygen species. The body reacts to reduce oxidative stress -- where the redox teeter-totter has gone too far up -- through production of endogenous antioxidants that reduce the reactive oxygen species.

14 May 2020

Researchers study the geography of childhood cancer in Switzerland

While cancer is rare in children, it is, nevertheless, the second most common cause of death during childhood in Switzerland and other European countries.

14 May 2020

Researchers identify new breast cancer gene in young women

Over the past 20 years, our knowledge of hereditary diseases has taken a quantum leap, and several hereditary gene variants have been found that may predispose to the development of cancer.

14 May 2020

ACMG: Technical standard on CFTR variant testing updated

It has been nearly two decades since the American College of Medical Genetics and Genomics, together with the American College of Obstetricians and Gynecologists, made the landmark recommendation that cystic fibrosis (CF) become the first target of pan-ethnic universal carrier screening, with ACMG identifying a core panel of 23 pathogenic variants to be tested.

14 May 2020

Using supercomputers to screen drugs for deadly heart arrhythmias

Death from sudden cardiac arrest makes headlines when it strikes athletes. But it also causes the most deaths by natural causes in the U.S. estimated at 325,000 per year.

14 May 2020

Researchers identify a group of dysregulated genes in autism

Autism has long been associated only with behavioral and environmental factors, but the role of genetics in its development is now increasingly evident. Some 100 genes have been found to play a role in autism spectrum disorder, and another thousand are being studied to the same end.

14 May 2020

Rotavirus infection mainly affects children under 5 years of age

A research team from the University of Valencia has carried out a study of infection and immunity markers by detecting antibodies in the blood of 7 different genotypes of the rotavirus VP8 protein, the virus that causes infectious diarrhoea, and concludes that more frequent types mainly affect the child population.

14 May 2020

Variations in genome’s 'dark matter' region can make patients susceptible to inflammatory diseases

A study led by researchers at the Babraham Institute in collaboration with the Wellcome Sanger Institute has uncovered how variations in a non-protein coding 'dark matter' region of the genome could make patients susceptible to complex autoimmune and allergic diseases such as inflammatory bowel disease.

14 May 2020

Only 3% individuals diagnosed with autism receive recommended clinical genetic tests

A study analyzing data from the Rhode Island Consortium for Autism Research and Treatment (RI-CART) found that only 3% of individuals diagnosed with autism spectrum disorder reported having fully received clinical genetic tests recommended by medical professional societies.

14 May 2020

Researchers identify CoV Mac1 proteins as a potential SARS-CoV-2 drug target

A recent study by researchers at the University of Kansas and published on the preprint server bioRxiv* reveals that Mac1 protein implicated in the infection process of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has a strikingly similar structure and activity in all coronaviruses – suggesting that possible future treatments targeting this protein may exert broad antiviral activity.

13 May 2020

A deep look into hormone-producing cells of the gut

Researchers from the Hubrecht Institute and Utrecht University generated an in-depth description of the human hormone-producing cells of the gut, in a large collaborative effort with other research teams. The results are presented in the scientific journal Cell on the 13th of May.

13 May 2020

Research explores how COVID-19 is spreading and mutating in the environment

A multi-disciplinary team of experts in virology and computer modeling has quickly assembled at San Diego State University to learn more about how the new coronavirus (COVID-19) spreads in the environment and how its trajectory can be better predicted.

13 May 2020

Researchers find higher prevalence of benign gynecologic lesions than previously reported

Over the last decade researchers have become concerned about a possible link between a benign gynecologic lesion called endosalpingiosis (ES) and ovarian cancer.

13 May 2020

Research identifies a disease trigger for pancreatitis

One factor contributing to the development of pancreatitis lies in mutations within a cell membrane ion channel that is characterized by its specific permeability for calcium ions.

13 May 2020

Study shows why older individuals are vulnerable to COVID-19

A group of tiny RNA that should attack the virus causing COVID-19 when it tries to infect the body are diminished with age and chronic health problems, a decrease that likely helps explain why older individuals and those with preexisting medical conditions are vulnerable populations, investigators report.

13 May 2020