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Cracking syphilis code: Genome sequencing reveals transmission secrets

Using whole genome sequencing, a new Lancet Microbe study sheds light on syphilis transmission dynamics in England. The research identifies distinct transmission clusters, revealing the effectiveness of genomic data in tracking and intervening in syphilis outbreaks.

20 Sep 2023

St. Jude Children's researchers better define hyperdiploidy in childhood B-ALL

Hyperdiploidy is a genetic condition observed in cancer cells, where the cells contain more chromosomes than usual.

20 Sep 2023

AlphaMissense revolutionizes genetic mutation analysis for disease prediction

AlphaMissense, an adaptation of AlphaFold, offers a highly accurate model for predicting the pathogenicity of human proteome-wide missense variants at the single amino acid level. The model outperforms existing methods, providing valuable insights for diagnosing rare diseases and developing targeted therapies.

20 Sep 2023

Journal of Pediatric Rehabilitation Medicine publishes supplement on spina bifida research and care

A supplement to the Journal of Pediatric Rehabilitation Medicine (JPRM) published by IOS Press, presents a compendium of abstracts from the 2023 World Congress on Spina Bifida Research and Care.

20 Sep 2023

Newborn screening for neurodevelopmental disorders may cause more harm than good

Expanding newborn screening (NBS) to include identifying genes associated with an increased risk for neurodevelopmental disorders (NDD) would cause more harm than good, according to an article published in Pediatrics.

20 Sep 2023

Scientists develop Australia’s first-of-its-kind next-gen mpox diagnostic tool

In a collaborative study published in The Lancet Microbe, the team of scientists, led by the Peter Doherty Institute for Infection and Immunity (Doherty Institute) and WEHI (Walter and Eliza Hall Institute of Medical Research), revealed MPXV-CRISPR – a powerful diagnostic tool capable of detecting MPXV in clinical samples with acute precision and at a faster rate than any other method, thanks to the power of CRISPR technology.

20 Sep 2023

Scientists identify new virus in deepest part of the ocean

The Mariana Trench, the deepest place on Earth, plunges nearly 11,000 meters at its lowest point on the floor of the Pacific Ocean. Life persists in the deep and cold darkness, and "wherever there's life, you can bet there are regulators at work," said marine virologist Min Wang, Ph.D, at the Ocean University of China, in Qingdao. "Viruses, in this case."

20 Sep 2023

Unlocking the potential of the ketogenic diet: studies reveal health benefits

Researchers reported on the effects of the ketogenic diet (KD) on various aspects of metabolic and endocrinal health.

20 Sep 2023

New study sheds light on vitamin D's role in cardiovascular health

Researchers conducted a prospective population-based analysis to understand whether vitamin D levels were associated with cardiovascular disease events and mortality, and overall mortality.

20 Sep 2023

Can a plant-based diet lower your risk of Parkinson's disease?

A recent study in the journal Movement Disorders examined the association between plant-based diets and Parkinson's disease (PD) risk, using data from 126,283 UK Biobank participants. The research found that those in the highest quartile for healthful plant-based diet indices (hPDI) had a 22% lower risk of PD, while unhealthful plant-based diets (uPDI) correlated with a 38% higher risk.

19 Sep 2023

Placental examination can accurately determine cause of 90% of unexplained pregnancy losses

Yale researchers have shown that placental examination resulted in the accurate pathologic determination of more than 90% of previously unexplained pregnancy losses, a discovery that they say may inform pregnancy care going forward.

19 Sep 2023

Eating your greens could trump genetics in fighting fatty liver disease, new study suggests

A recent longitudinal study using data from the U.K. Biobank explores the interplay between plant-based diets and genetic predisposition in affecting the risk of non-alcoholic fatty liver disease (NAFLD). The study finds that a higher consumption of healthful plant-based foods can mitigate the risk of NAFLD, even in individuals with genetic susceptibility, while unhealthful plant-based foods increase the risk.

19 Sep 2023

Lack of clean water, sanitation, and hygienic controls in Cambodia promotes emergence of drug-resistant E. coli

A new study suggests that Escherichia coli and other disease-causing microbes are passing easily between humans and animals in Cambodia, a country where clean water, sanitation and hygienic controls are lacking in many regions.

19 Sep 2023

DeepMind develops new tool to predict pathogenicity of missense variants

DeepMind is releasing AlphaMissense, a tool researchers can use to learn more about the effects that missense mutations – which make up the majority of "variants of uncertain significance" – have on disease.

19 Sep 2023

Study offers new insight into increased risk of blood clots in women

New research from Queen Mary University of London, published in iScience, shows an increased risk of blood clots in women who have any combination of a particular gene mutation, estrogen use, or common medical conditions - specifically: obesity, high blood pressure, high cholesterol, and kidney disease.

19 Sep 2023

Scientists uncover potential key risk factors for melanomas in children and adolescents

A recent eBioMedicine study found key risk factors associated with the development of melanoma in children and adolescents.

19 Sep 2023

Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

Researchers at The Ohio State University Wexner Medical Center and College of Medicine led the creation of evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease that affects the cells in the brain and spine.

19 Sep 2023

Adaptive platform trial shows promise for finding new glioblastoma therapies

An innovative phase 2 clinical trial led by Dana-Farber Cancer Institute in collaboration with 10 major brain tumor centers around the country and designed to find new potential treatments for glioblastoma has reported initial results in the Journal of Clinical Oncology. While none of the three therapeutics tested so far improved overall survival of patients, this adaptive platform trial, the first of its kind in neuro-oncology, has the potential to rapidly and efficiently identify therapies that benefit patients.

19 Sep 2023

New research offers insight about the reason mitochondrial DNA is maternally inherited

New research provides insight about the bedrock scientific principle that mitochondrial DNA - the distinct genetic code embedded in the organelle that serves as the powerplant of every cell in the body - is exclusively passed down by the mother.

19 Sep 2023

Gaining new insights into neurological diseases by studying circular RNAs in brain cells

Researchers are gaining new insights into neurological diseases by studying circular RNAs (circRNAs) in brain cells.

19 Sep 2023

Genetic News and Research

Cracking syphilis code: Genome sequencing reveals transmission secrets

St. Jude Children's researchers better define hyperdiploidy in childhood B-ALL

AlphaMissense revolutionizes genetic mutation analysis for disease prediction

Journal of Pediatric Rehabilitation Medicine publishes supplement on spina bifida research and care

Newborn screening for neurodevelopmental disorders may cause more harm than good

Scientists develop Australia’s first-of-its-kind next-gen mpox diagnostic tool

Scientists identify new virus in deepest part of the ocean

Unlocking the potential of the ketogenic diet: studies reveal health benefits

New study sheds light on vitamin D's role in cardiovascular health

Can a plant-based diet lower your risk of Parkinson's disease?

Placental examination can accurately determine cause of 90% of unexplained pregnancy losses

Eating your greens could trump genetics in fighting fatty liver disease, new study suggests

Lack of clean water, sanitation, and hygienic controls in Cambodia promotes emergence of drug-resistant E. coli

DeepMind develops new tool to predict pathogenicity of missense variants

Study offers new insight into increased risk of blood clots in women

Scientists uncover potential key risk factors for melanomas in children and adolescents

Ongoing gene therapy trials have driven increased use of ALS genetic testing, finds study

Adaptive platform trial shows promise for finding new glioblastoma therapies

New research offers insight about the reason mitochondrial DNA is maternally inherited

Gaining new insights into neurological diseases by studying circular RNAs in brain cells

Genetics & Genomics - Second Edition 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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