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Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

Cornelia de Lange syndrome (CdLS) is a rare genetic disorder with symptoms, including facial anomalies (such as fused eyebrows, short nose, upturned nose tip, and downturned mouth corners), growth retardation, small head (microcephaly), developmental delays, cognitive impairments, excess hair growth, and limb anomalies.

29 Aug 2025

Exploring the untapped potential of DNA glycosylation

Recent advancements in glycobiology have challenged the traditional understanding of molecular interactions, and a new study published in Engineering titled "Can DNA be glycosylated?" by Wei Wang further explores this emerging field.

29 Aug 2025

Daily use of low-dose colchicine may slow growth of blood mutations linked to disease

Taking low-dose colchicine daily may slow the progression of a common acquired gene mutation found in the blood of older adults that can lead to certain blood cancers and increased risk of cardiovascular disease, according to a subanalysis of the LoDoCo2 trial published in JACC, the flagship journal of the American College of Cardiology, and simultaneously presented at ESC Congress 2025.

29 Aug 2025

How do common painkillers drive stronger E. coli resistance?

Research shows that non-antibiotic medications like ibuprofen can enhance E. coli mutations, raising concerns about antimicrobial resistance in older adults.

29 Aug 2025

AI and routine lab tests offer a more accurate prediction of genetic disease risk

When genetic testing reveals a rare DNA mutation, doctors and patients are frequently left in the dark about what it actually means.

28 Aug 2025

New advances offer hope in the fight against KRAS-driven pancreatic cancer

Accounting for nearly 90% of all pancreatic cancers, pancreatic ductal adenocarcinoma (PDAC) has a five-year survival rate of just 13%. Late-stage diagnosis, limited surgical options, and toxic chemotherapy regimens contribute to its poor outcomes.

28 Aug 2025

Multi-analyte test accurately identifies brain cancers using cerebrospinal fluid

A novel, multi-analyte test developed by researchers at the Johns Hopkins Kimmel Cancer Center, its Ludwig Center and the Johns Hopkins Department of Neurosurgery can accurately identify brain cancers using small samples of cerebrospinal fluid (CSF), offering a promising new tool to guide clinical decision-making.

27 Aug 2025

Routine eye exams may help detect Alzheimer’s years before symptoms appear

Within the next few years, doctors may be able to spot signs of Alzheimer's disease and other dementias using routine eye exams well before symptoms appear, a new study suggests.

27 Aug 2025

New method uncovers how extracellular vesicles impact immune response in cancer

Certain types of biochemical processes can impair the immune system's ability to recognize and kill cancer cells. Purdue University's W. Andy Tao and his associates have developed a new way to study these processes.

26 Aug 2025

Strategic tips for early-stage animal health companies facing regulatory challenges

Karen Greenwood shares practical advice for early-stage animal health companies navigating FDA CVM processes.

From DSI, a PLG Company 25 Aug 2025

Balancing speed and selectivity is key for designing effective targeted covalent inhibitors

One class of drugs that has shown promise in treating diseases ranging from lung cancer to COVID-19 are targeted covalent inhibitors (TCIs).

22 Aug 2025

Breakthroughs in diagnosis and therapy for transthyretin amyloidosis

Transthyretin amyloidosis (ATTR) is caused by the misfolding and aggregation of the transthyretin (TTR) protein, leading to multi-organ damage.

21 Aug 2025

Genetic variants influencing vitamin D synthesis, metabolism, and transport

A Canadian review synthesizes genetic factors that influence vitamin D synthesis, metabolism, and transport, highlighting how polymorphisms affect circulating levels. It also explores how gene-environment interactions shape individual responses to supplementation and sunlight.

20 Aug 2025

AI model detects genetic changes in colorectal cancer from tissue images

An international, interdisciplinary research team led by Prof. Jakob N. Kather from the Else Kröner Fresenius Center (EKFZ) for Digital Health at TUD Dresden University of Technology analyzed seven independent patient cohorts from Europe and the USA using their newly developed AI model.

20 Aug 2025

Somatic mutations drive vascular aging and muscle weakness over time

Two new studies from Karolinska Institutet in Sweden have investigated how mutations that occur in muscles and blood vessels over time can affect aging.

20 Aug 2025

Researchers gain better understanding of how nerve cells can be protected against ALS

By analyzing millions of messenger RNA molecules (mRNA) during the course of ALS, researchers at Stockholm University, in collaboration with scientists at the Paris Brain Institute and Örebro University, have identified why certain nerve cells are resistant to the disease and what happens in the sensitive nerve cells when they are affected.

19 Aug 2025

Dual vector gene therapy for GM2 gangliosidosis shows encouraging results in clinical trial

Patients in a Phase I/II clinical trial conducted by UMass Chan Medical School of a dual vector gene therapy for GM2 gangliosidosis, which includes Tay-Sachs and Sandhoff diseases, exhibited a biochemical correction of the disease with minimal adverse reactions.

18 Aug 2025

Polβ enzyme found to protect developing brain from harmful DNA mutations

A research group led by The University of Osaka has discovered that the DNA repair enzyme Polβ plays a crucial role in protecting the developing brain from harmful mutations.

18 Aug 2025

Dementia-like protein clumping found in early pancreatic cancer cells

Cancer Research UK-funded scientists have uncovered dementia-like behaviour in pancreas cells at risk of turning into cancer. The findings provide clues that could help in the treatment and prevention of pancreatic cancer, a difficult-to-treat disease linked to 6,900 deaths in the UK every year.

17 Aug 2025

Reengineered enzyme enables precise detection of cell surface glycans

Sugars known as glycans form dense envelopes around cells. But they're often ignored in biological investigations because, unlike DNA, proteins and other cellular components, tools to study them are lacking.

14 Aug 2025

Mutation News and Research

Insights into clinical features and genetic variants of Cornelia de Lange syndrome in China

Exploring the untapped potential of DNA glycosylation

Daily use of low-dose colchicine may slow growth of blood mutations linked to disease

How do common painkillers drive stronger E. coli resistance?

AI and routine lab tests offer a more accurate prediction of genetic disease risk

New advances offer hope in the fight against KRAS-driven pancreatic cancer

Multi-analyte test accurately identifies brain cancers using cerebrospinal fluid

Routine eye exams may help detect Alzheimer’s years before symptoms appear

New method uncovers how extracellular vesicles impact immune response in cancer

Strategic tips for early-stage animal health companies facing regulatory challenges

Balancing speed and selectivity is key for designing effective targeted covalent inhibitors

Breakthroughs in diagnosis and therapy for transthyretin amyloidosis

Genetic variants influencing vitamin D synthesis, metabolism, and transport

AI model detects genetic changes in colorectal cancer from tissue images

Somatic mutations drive vascular aging and muscle weakness over time

Researchers gain better understanding of how nerve cells can be protected against ALS

Dual vector gene therapy for GM2 gangliosidosis shows encouraging results in clinical trial

Polβ enzyme found to protect developing brain from harmful DNA mutations

Dementia-like protein clumping found in early pancreatic cancer cells

Reengineered enzyme enables precise detection of cell surface glycans

Improving healthcare sustainability through carbon data

A New Approach to Preventing Bladder Cancer Recurrence

Bringing real-time analytics to downstream bioprocess monitoring

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