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Researchers identify multisystem disorder caused by bi-allelic variants in CCDC47 gene

Researchers and clinicians through a multicenter collaboration have identified a novel multisystem disorder caused by bi-allelic variants in the CCDC47 gene. Their findings are reported in the American Journal of Human Genetics.

20 Nov 2018

About 300 million bits of DNA are missing from basic reference genome, report scientists

For the past 17 years, most scientists around the globe have been using the nucleic acid sequence, or genome, an assembly of DNA information, from primarily a single individual as a kind of "baseline" reference and human species representation for comparing genetic variety among groups of people.

20 Nov 2018

Researchers identify genetic changes that could increase risk for death by suicide

Researchers at University of Utah Health identified four gene changes that occur more frequently in people who died by suicide that may point to increased risk in vulnerable individuals.

19 Nov 2018

Researchers identify gene vital for post-stroke recovery

Having certain specific variants of the PATJ gene predisposes to worse recovery from ischemic stroke. 7 out of 10 patients with these variants suffer severe sequelae three months after having a stroke, in other words, they are in a situation of dependence, compared to less than half of patients who do not present these variants.

19 Nov 2018

Participation project calls for relaxing research ban on germline interventions

Are genetic defects allowed to be repaired by intervening with sperm or egg cells, or even human embryos? Thanks to genetic scissors such as CRISPR/Cas, such interventions in the germline could soon become a medical reality.

19 Nov 2018

New strategy to hinder emergence of antimicrobial-resistant pathogens

With many disease-causing bacteria ratcheting up their shields against current drugs, new tactics are vital to protect people from treatment-resistant infections.

17 Nov 2018

New method to extend cell division and immortalization of avian-derived cells

The number of critically endangered animals has been increasing in recent years. According to data from the International Union for the Conservation of Nature, 1375 avian species are categorized as being endangered animals, and around 12% of the endangered species are avian.

16 Nov 2018

Study: Vegetables and salad may include bacteria that are resistant to antibiotics

Salad is popular with people who want to maintain a balanced and healthy diet. Salad varieties are often offered for sale ready-cut and film-packaged. It is known that these types of fresh produce may be contaminated with bacteria that are relevant from the point of view of hygiene.

16 Nov 2018

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

Over 30 years ago, Marsha and Allen Barnett lost their sons to a puzzling childhood disease that relentlessly attacked their nervous systems and sapped their energy.

15 Nov 2018

CRISPR-based tool shown to enhance cell-based immunotherapy

Researchers have developed a CRISPR-based tool called SLICE that can boost the effectiveness of immune cell therapies.

15 Nov 2018

Researchers develop tool that speeds up analysis and publication of biomedical data

Researchers at the Icahn School of Medicine at Mount Sinai have developed a tool that speeds up the analysis and publication of biomedical data from many months or years to mere minutes, transforming the way researchers communicate results of their studies.

15 Nov 2018

Researchers discover key factors behind intestinal inflammation in CVID patients

Oregon State University researchers have discovered two key factors behind the intestinal inflammation that plagues people suffering from a disorder that affects their immune system.

14 Nov 2018

Speed and error rate of DNA synthesis influenced by DNA structure

The speed and error rate of DNA synthesis is influenced by the three-dimensional structure of the DNA. Using "third-generation" genome-wide DNA sequencing data, a team of researchers from Penn State and the Czech Academy of Sciences showed that sequences with the potential to form unusual DNA conformations, which are frequently associated with cancer and neurological diseases, can in fact slow down or speed up the DNA synthesis process and cause more or fewer sequencing errors.

14 Nov 2018

New technology based on moths and magnets could help treat genetic diseases

A new technology that relies on a moth-infecting virus and nanomagnets could be used to edit defective genes that give rise to diseases like sickle cell, muscular dystrophy and cystic fibrosis.

14 Nov 2018

Transgenic rat model may provide new insights into cerebral amyloid angiopathy

In a report in The American Journal of Pathology investigators describe the generation of a successful novel transgenic rat model that accumulates amyloid specifically in brain blood vessels and strongly mimics many of the associated detrimental changes that are observed in humans - a condition known as cerebral amyloid angiopathy, which is also commonly observed in Alzheimer disease.

13 Nov 2018

Researchers discover possible path forward in preventing cancers tied to two viruses

Researchers from the University of Minnesota, the Howard Hughes Medical Institute, and the University of Toronto have discovered a possible path forward in preventing the development of cancers tied to two viruses, including the virus that causes infectious mononucleosis--more commonly known as mono or the "kissing disease"--that infects millions of people around the globe each year.

12 Nov 2018

Failed DNA repair triggers chromosomal chaos in cancer cells

Researchers have established the trigger for catastrophic events that occur within the chromosomes of cancer cells and lead to cancer cell death.

12 Nov 2018

Common bacteria that cause foodborne diseases found to be resistant to antibiotics

Brazil's Ministry of Health received reports of 11,524 outbreaks of foodborne diseases between 2000 and 2015, with 219,909 individuals falling sick and 167 dying from the diseases in question.

9 Nov 2018

Cardiovascular and Alzheimer's disease share common genetics in some individuals, study shows

Genetics may predispose some people to both Alzheimer's disease and high levels of blood lipids such as cholesterol, a common feature of cardiovascular disease, according to a new study by an international team of researchers led by scientists at UC San Francisco and Washington University School of Medicine in St. Louis.

9 Nov 2018

Mitochondrial DNA may have strong influence on cellular metabolism and disease susceptibility

About 1.5 billion years ago, tiny visitors came to live inside the cells that later evolved into all plant and animal life -- including humans.

9 Nov 2018

Genome News and Research

Researchers identify multisystem disorder caused by bi-allelic variants in CCDC47 gene

About 300 million bits of DNA are missing from basic reference genome, report scientists

Researchers identify genetic changes that could increase risk for death by suicide

Researchers identify gene vital for post-stroke recovery

Participation project calls for relaxing research ban on germline interventions

New strategy to hinder emergence of antimicrobial-resistant pathogens

New method to extend cell division and immortalization of avian-derived cells

Study: Vegetables and salad may include bacteria that are resistant to antibiotics

Research team identifies Ashkenazi Jewish founder mutation for Leigh syndrome

CRISPR-based tool shown to enhance cell-based immunotherapy

Researchers develop tool that speeds up analysis and publication of biomedical data

Researchers discover key factors behind intestinal inflammation in CVID patients

Speed and error rate of DNA synthesis influenced by DNA structure

New technology based on moths and magnets could help treat genetic diseases

Transgenic rat model may provide new insights into cerebral amyloid angiopathy

Researchers discover possible path forward in preventing cancers tied to two viruses

Failed DNA repair triggers chromosomal chaos in cancer cells

Common bacteria that cause foodborne diseases found to be resistant to antibiotics

Cardiovascular and Alzheimer's disease share common genetics in some individuals, study shows

Mitochondrial DNA may have strong influence on cellular metabolism and disease susceptibility

The art of CRISPR: The power and promise of gene editing eBook

Lab Matters host Harriet Gould on building a more connected lab community

The Critical Role of Sample Storage in Drug Discovery and Development

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

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