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Unraveling the molecular mechanisms of disease-causing mutations

Most mutations which cause disease by swapping one amino acid out for another do so by making the protein less stable, according to a massive study of human protein variants published today in the journal Nature. Unstable proteins are more likely to misfold and degrade, causing them to stop working or accumulate in harmful amounts inside cells.

9 Jan 2025

UCLA professor shares insights into the neurobiology of psychosis risk in adolescents

In a comprehensive Genomic Press Interview, Dr. Carrie E. Bearden, Professor of Psychiatry and Biobehavioral Sciences and Psychology at UCLA, shares transformative insights into the neurobiology of psychosis risk in young people.

7 Jan 2025

New nanopore-based tool enables single molecule disease detection

UC Riverside scientists have developed a nanopore-based tool that could help diagnose illnesses much faster and with greater precision than current tests allow, by capturing signals from individual molecules.

2 Jan 2025

Study uncovers how cancer builds molecular bridges to evade the immune system

"Build your enemy a golden bridge to retreat across" is a piece of advice offered by Sun Tzu in his ancient military treatise, The Art of War.

23 Dec 2024

New prediction model improves early detection of infected pancreatic necrosis

A new prediction model for infected pancreatic necrosis (IPN) in patients with acute pancreatitis (AP) offers a groundbreaking approach to improving patient outcomes.

20 Dec 2024

Study finds facial shape differences linked to schizophrenia and bipolar disorder

A study published in Psychiatry Research identifies subtle differences in facial shapes that may be linked to the diagnosis of schizophrenia and bipolar disorder.

19 Dec 2024

Breakthrough study unravels molecular subtypes of breast cancer

Breast cancer, with its myriad subtypes, has long eluded a uniform treatment strategy. The disease's molecular complexity has rendered traditional, blanket treatments insufficient, particularly for the aggressive triple-negative form.

18 Dec 2024

Genetic testing improves care for pediatric neurodevelopmental disorders

Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study.

18 Dec 2024

A new era of targeted therapy with antibody–drug conjugates

TBC

From Sino Biological Inc. 16 Dec 2024

AI revolutionizes cancer research with advanced tools

Significant advancements in understanding the molecular and cellular mechanisms of tumor progression have been made, yet challenges remain.

13 Dec 2024

Lab-grown tumor organoids predict patient response to CAR T cell therapy

For the first time, researchers used lab-grown organoids created from tumors of individuals with glioblastoma (GBM) to accurately model a patient's response to CAR T cell therapy in real time.

9 Dec 2024

Two new subtypes of MASH revealed with different risks and outcomes

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly referred to as nonalcoholic fatty liver disease (NAFLD), impacts roughly 30% of the global adult population.

9 Dec 2024

AI in medicine: Revolutionary tools, uncertain results

AI decision-making systems show promise but lack consistent evidence for improving patient-relevant outcomes like mortality and quality of life. Rigorous harm-benefit assessments and transparency are needed for safe integration into healthcare.

3 Dec 2024

KIT’s 3ROCKIT 3R Center works towards developing methods to replace animal testing

In future medicine, personalized computer models, so-called Virtual Human Twins, could help in the planning of individual therapies.

29 Nov 2024

Innovative tool enhances the accuracy of predicting survival outcomes for liver failure patients

Researchers have unveiled a groundbreaking advancement in liver failure care: the CATCH-LIFE-MELD score (Chinese Acute-on-Chronic Liver Failure Consortium (CATCH-LIFE)-MELD score).

26 Nov 2024

Hamilton and Amabel James Center for AI and Human Health launches at Mount Sinai

Today, the Mount Sinai Health System, one of New York City's largest academic medical systems, announced the opening of the Hamilton and Amabel James Center for Artificial Intelligence and Human Health, which is dedicated to enhancing health care delivery through the research, development, and application of innovative artificial intelligence (AI) tools and technologies.

25 Nov 2024

Mapping human biology: Human Cell Atlas leads a new era in precision medicine

The Human Cell Atlas project maps human cells to understand biology, address global health disparities, and advance personalized medicine through ethical and inclusive research practices.

21 Nov 2024

Jaw muscle size linked to sarcopenia risk in older adults

As populations age, the prevalence of sarcopenia - a progressive loss of muscle mass and function - has become an increasingly urgent public health concern. Sarcopenia increases the risk of falls and frailty, reduces the quality of life for older adults, and heightens the likelihood of requiring long-term care. Preventing sarcopenia is, therefore, crucial for alleviating this healthcare burden.

20 Nov 2024

Study reveals variability in polygenic risk scores for predicting heart disease

Polygenic risk scores (PRSs) are a cutting-edge tool in genetics, combining information from genetic markers across the genome to estimate a person's risk of developing certain diseases, such as coronary artery disease (CAD).

19 Nov 2024

Study identifies cost-effective strategies for using AI in health systems

A study by researchers at the Icahn School of Medicine at Mount Sinai has identified strategies for using large language models (LLMs), a type of artificial intelligence (AI), in health systems while maintaining cost efficiency and performance.

18 Nov 2024