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New approach detects T cells in "cold" tumors, paves way for broader immunotherapy

Most cancers are thought to evade the immune system. These cancers don't carry very many mutations, and they aren't infiltrated by cancer-fighting immune cells. Scientists call these cancers immunologically "cold."

29 Feb 2024

NIH funds study on neural mechanisms behind autism and sound sensitivity

Supported by a $2 million R01 grant from the National Institutes of Health, the Auerbach Lab at the Beckman Institute for Advanced Science and Technology will examine how different genes associated with autism spectrum disorders may similarly impact our brain's neurons, resulting in heightened sensitivity to sounds.

28 Feb 2024

GTF2I gene's role in Williams syndrome and autism unraveled

Individuals with the neurodevelopmental disorder Williams syndrome have a gregarious "cocktail party" personality, while those with the opposite genetic alteration, in contrast, tend to have autistic traits and are prone to struggle socially.

28 Feb 2024

Study reveals high prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from the Salento peninsula

A new research paper was published in Oncotarget's Volume 15 on February 22, 2024, entitled, "Prevalence and spectrum of germline BRCA1 and BRCA2 in a cohort of ovarian cancer patients from the Salento peninsula (Southern Italy): a matter of preventive health."

28 Feb 2024

New tool can streamline the analysis of complex epigenome and epitranscriptome data

Scientists have extensively researched the structure and sequence of genetic material and its interactions with proteins in the hope of understanding how our genetics and environment interact in diseases.

28 Feb 2024

AI-based technology unlocks secrets of myasthenic-congenital syndromes

An international team of scientists led by ICREA researcher and Director of the Life Sciences Department at the Barcelona Supercomputing Centre - Centro Nacional de Supercomputación (BSC-CNS), Alfonso Valencia, has developed a technology based on artificial intelligence (AI) for the study of minority diseases and has successfully applied it to identify the possible causes of the appearance of what are known as myasthenic-congenital syndromes, a group of rare inherited disorders that limit the ability to move and cause varying degrees of muscle weakness in patients.

28 Feb 2024

Developing a prognostic model for bladder urothelial cancer using oxidative stress signatures

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 3, entitled, "Prognostic model development and molecular subtypes identification in bladder urothelial cancer by oxidative stress signatures."

28 Feb 2024

Breakthrough blood test developed for early detection of sarcoidosis

A research project led by Lobelia Samavati, M.D., professor of internal medicine and molecular medicine and genetics at the Wayne State University School of Medicine, and supported by the National Institutes of Health (NIH), has developed a tool to rapidly and inexpensively diagnose sarcoidosis, a chronic inflammatory disease marked by the growth of tiny lumps called granulomas in the lungs and other organs.

28 Feb 2024

Research identifies genetic change associated with human tail loss

A genetic change in our ancient ancestors may partly explain why humans don't have tails like monkeys, finds a new study led by researchers at NYU Grossman School of Medicine.

28 Feb 2024

New lung cell atlas unveils pathways to lung adenocarcinoma development

Researchers at The University of Texas MD Anderson Cancer Center built a new atlas of lung cells, uncovering new cellular pathways and precursors in the development of lung adenocarcinoma, the most common type of lung cancer.

28 Feb 2024

AHA scientific statement: Advances and challenges in AI applications for cardiovascular medicine

Artificial intelligence (AI) may transform cardiovascular medicine. For now, though, many challenges remain, and few AI tools have been proven to improve care, according to a new American Heart Association scientific statement published today in Circulation, the Association's flagship, peer-reviewed journal.

28 Feb 2024

Genetic risk tool could aid early diagnosis and treatment of multiple sclerosis patients

Young people could be spared from going blind by a new genetic risk tool that could also help diagnose multiple sclerosis (MS) earlier, to start effective treatments.

28 Feb 2024

Using machine learning to identify key predictors of mortality in dementia patients

Researchers at the Icahn School of Medicine at Mount Sinai and others have harnessed the power of machine learning to identify key predictors of mortality in dementia patients.

28 Feb 2024

Caffeine's protective effects against obesity and joint diseases supported by genetic study

The effects of caffeine levels in circulation by considering genetically predicted variations in caffeine metabolism.

28 Feb 2024

Genetic studies shed light on hypertension risk but fall short of revealing new treatments

Genetic variant research in hypertension has identified numerous associations but is unlikely to yield new treatments, emphasizing the gap between scientific discovery and clinical application.

27 Feb 2024

SickKids scientists lay the groundwork for early detection of cardiomyopathy

In the first study to use whole genome sequencing to examine tandem repeat expansions in heart conditions, scientists at The Hospital for Sick Children (SickKids) have laid the groundwork for early detection of and future precision therapies for cardiomyopathy.

27 Feb 2024

Eye movement reflex reveals genetic association with autism

Scientists at UC San Francisco may have discovered a new way to test for autism by measuring how children's eyes move when they turn their heads.

27 Feb 2024

GENERATE study: Remote genetic education boosts testing rates for inherited cancer risk

Even as it's become clear that an inherited susceptibility to some cancers is more common than once thought, genetic testing of family members of cancer patients hasn't increased as much as experts had hoped.

27 Feb 2024

Study demonstrates a feasible way to expand germline genetic testing for cancer patients

A new University of Kentucky Markey Cancer Center study published in JCO Precision Oncology demonstrates a feasible way to expand germline genetic testing for patients with cancer.

27 Feb 2024

Study finds metabolic checkpoint PHGDH as potential target to modulate tumor-associated macrophages

A study by a scientific team from the University of Vienna and the MedUni Vienna, recently published in the top-class journal Cellular & Molecular Immunology, has a promising result from tumor research: The enzyme phosphoglycerate dehydrogenase (PHDGH) acts as a metabolic checkpoint in the function of tumor-associated macrophages (TAMs) and thus on tumor growth.

27 Feb 2024

Genetic News and Research

New approach detects T cells in "cold" tumors, paves way for broader immunotherapy

NIH funds study on neural mechanisms behind autism and sound sensitivity

GTF2I gene's role in Williams syndrome and autism unraveled

Study reveals high prevalence of BRCA1 and BRCA2 mutations in ovarian cancer patients from the Salento peninsula

New tool can streamline the analysis of complex epigenome and epitranscriptome data

AI-based technology unlocks secrets of myasthenic-congenital syndromes

Developing a prognostic model for bladder urothelial cancer using oxidative stress signatures

Breakthrough blood test developed for early detection of sarcoidosis

Research identifies genetic change associated with human tail loss

New lung cell atlas unveils pathways to lung adenocarcinoma development

AHA scientific statement: Advances and challenges in AI applications for cardiovascular medicine

Genetic risk tool could aid early diagnosis and treatment of multiple sclerosis patients

Using machine learning to identify key predictors of mortality in dementia patients

Caffeine's protective effects against obesity and joint diseases supported by genetic study

Genetic studies shed light on hypertension risk but fall short of revealing new treatments

SickKids scientists lay the groundwork for early detection of cardiomyopathy

Eye movement reflex reveals genetic association with autism

GENERATE study: Remote genetic education boosts testing rates for inherited cancer risk

Study demonstrates a feasible way to expand germline genetic testing for cancer patients

Study finds metabolic checkpoint PHGDH as potential target to modulate tumor-associated macrophages

eBook: Using iPSCs models for human disease research and drug discovery 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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