Genetic News and Research

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Breakthrough gene silencing method slashes cholesterol for a year in mice, no DNA damage

Researchers developed an engineered transcriptional repressor that durably silences the Pcsk9 gene in mice, reducing cholesterol levels for up to a year with a single treatment, showcasing a potential breakthrough in genetic disorder treatments without the risks of DNA mutation.

29 Feb 2024

Research uncovers key therapeutic target for reversing accelerated atherosclerosis in diabetes

Diabetes accelerates the development of atherosclerosis, increasing the incidence of cardiovascular events.

29 Feb 2024

SickKids study offers new path for pediatric rare disease clinical trials

Using a novel methodology, researchers at The Hospital for Sick Children (SickKids) are the first in pediatric research to use data from an international real-world cohort to overcome the barriers associated with conducting randomized clinical trials in children with rare diseases.

29 Feb 2024

Breakthrough CRISPR technique unlocks insights about cancer immunology

Over the past two decades, the immune system has attracted increasing attention for its role in fighting cancer.

29 Feb 2024

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

Researchers from the UCLA Health Jonsson Comprehensive Cancer Center show for the first time that a gene usually linked to giant axonal neuropathy, a rare and severe neurological condition, also plays a role in inhibiting aggressive tumor cell growth in head and neck cancers.

29 Feb 2024

Is posttraumatic epilepsy associated with long-term dementia risk?

The associations between post-traumatic epilepsy (PTE) and the risk of dementia.

29 Feb 2024

New tool unravels the mystery of DNA-RNA interactions in single cells

Cancers begin with abnormal changes in individual cells, and the ability to track the accumulation of mutations at the single-cell level can shed new light on the early stages of the disease. Such knowledge could enable more effective early detection and treatment options for patients as well as more accurate predictions of disease progression.

29 Feb 2024

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

Genetic News and Research

Breakthrough gene silencing method slashes cholesterol for a year in mice, no DNA damage

Research uncovers key therapeutic target for reversing accelerated atherosclerosis in diabetes

SickKids study offers new path for pediatric rare disease clinical trials

Breakthrough CRISPR technique unlocks insights about cancer immunology

UCLA researchers uncover dual role of GAN gene in neurological disorder, head and neck cancer

Is posttraumatic epilepsy associated with long-term dementia risk?

New tool unravels the mystery of DNA-RNA interactions in single cells

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

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

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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