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Investigating the relationship between COPD and liver disease in alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder characterized by the misfolding and accumulation of the mutant variant of alpha-1 antitrypsin (AAT) within hepatocytes, which limits its access to the circulation and exposes the lungs to protease-mediated tissue damage.

26 Oct 2024

Groundbreaking study reveals secrets of Drosophila uterus

You have likely not spent much time thinking about the uterus of the fruit fly, Drosophila melanogaster.

26 Oct 2024

High-throughput imaging platform reveals impact of mutations on protein location

The team developed a high-throughput imaging platform to assess the influence of nearly 3,500 mutations on protein location. They found that roughly one in six disease-causing mutations led to proteins ending up in the wrong location in the cell.

26 Oct 2024

Ipsen's elafibranor recommended for use in patients with rare liver disease

Ipsen announced today that the National Institute for Health and Care Excellence (NICE) has recommended elafibranor 80mg tablets for the treatment of PBC in combination with ursodeoxycholic acid (UDCA) in adults with an inadequate response to UDCA, or as monotherapy in adults unable to tolerate UDCA. This makes elafibranor the first medicine for PBC approved for use on the NHS in nearly a decade.

26 Oct 2024

Pioneering trial to test multiple new treatments for glioblastoma

A pioneering research study announced today (October 23) will trial multiple new treatments for people in the UK living with glioblastoma, an aggressive form of brain cancer.

26 Oct 2024

RNA modifications and their role in cancer development

Cancer, a disease with global impact, is intricately linked to dysregulated gene expression, which is influenced by both genetic mutations and epigenetic changes, including RNA modifications.

25 Oct 2024

ClinGen publishes data on over 2700 genes relevant to genetic diseases

The Clinical Genome Resource (ClinGen), a National Institutes of Health (NIH)-funded resource that works to define the clinical relevance of genes and variants, has published data on more than 2,700 genes curated for relevance to genetic diseases, including cancer, cardiovascular disease and neurodevelopmental disorders.

25 Oct 2024

Review highlights advances in flexible optoelectronics for cardiac healthcare

A review paper by scientists at Institute of Chemistry, Chinese Academy of Sciences summarized the progress of biointegrated flexible and stretchable optoelectronics for wearable and implantable cardiac healthcare.

25 Oct 2024

Researchers unlock potential of light-controlled cellular activities

Researchers at the Paul Scherrer Institute PSI have succeeded in elucidating the structure of specific photoreceptors.

25 Oct 2024

FUSE: Revolutionizing the analysis of gene mutations

Our study introduces a new tool called FUSE (Functional Substitution Estimation) that helps scientists better understand how changes in genes affect proteins.

25 Oct 2024

Researchers uncover why the TP53 gene is especially prone to mutations in cancer

Mutations in the fragile TP53 gene impair p53's tumor-suppressive functions, making it more vulnerable than other tumor suppressors.

24 Oct 2024

Key mutations discovered in cancer cells linked to WRN inhibitor resistance

Researchers have discovered key mutations in certain cancer cells that make them resistant to WRN inhibitors, a new class of anti-cancer drugs.

24 Oct 2024

DNA analysis outperforms standard newborn screening, study shows

Early results from a study of newborn screening methods show that DNA analysis picks up many more preventable or treatable serious health conditions than standard newborn screening and is favored by most parents who are offered the option.

24 Oct 2024

Study identifies key blood stem cells in immune system aging

What keeps some immune systems youthful and effective in warding off age-related diseases? In a new paper published in Cellular & Molecular Immunology, USC Stem Cell scientist Rong Lu and her collaborators point the finger at a small subset of blood stem cells, which make an outsized contribution to maintaining either a youthful balance or an age-related imbalance of the two main types of immune cells: innate and adaptive.

24 Oct 2024

Brain aging may hold the key to predicting Alzheimer’s risk

Research reveals advanced brain aging in older adults correlates with cognitive decline and Alzheimer's risk, highlighting the need for early intervention.

24 Oct 2024

PIONEER software breaks down barriers in protein-protein interaction research

Scientists from Cleveland Clinic and Cornell University have designed a publicly-available software and web database to break down barriers to identifying key protein-protein interactions to treat with medication.

24 Oct 2024

Arthritis-style immunotherapy shows promise for heart failure

A study uncovers IL-1β signaling in cardiac fibrosis, highlighting distinct fibroblast populations and promising immunotherapy strategies for heart failure.

24 Oct 2024

Sleep deprivation in early life increases autism risk

Sleep deprivation in adults has long been proven to cause long-term mental and physical health issues, including, but not limited to, weakened immune systems, weight gain, depression, and increased risk of dementia.

24 Oct 2024

Deletion of long non-coding RNA linked to rare neurodevelopmental disorder

When a gene produces too much protein, it can have devastating consequences on brain development and function. Patients with an overproduction of protein from the chromodomain helicase DNA binding (CHD2) gene can develop a rare and severe neurodevelopmental disorder that renders them wheelchair-bound, nonverbal and with profound intellectual delays.

24 Oct 2024

Tibetan women’s high-altitude adaptations drive greater reproductive success

Researchers uncover how specific genetic and cardiovascular traits give Tibetan women an edge in surviving and thriving at high altitudes, linking better oxygen delivery to more successful pregnancies.

23 Oct 2024