Genetics

News • GATA2 deficiency

New gene-editing technology could help treat rare diseases

Researchers have successfully corrected part of a genetic defect in stem cells taken from a patient with GATA2 deficiency. This could have significant implications for patients with genetic disorders.

News • Oncology

DNA in blood signals cancer risk years ahead

DNA methylation patterns in blood could identify people at high risk of prostate or breast cancer up to eight years before diagnosis, Oxford Population Health researchers report.

News • New approach to limit infections

Cystic fibrosis: restoring the respiratory protective barrier

To fight cystic fibrosis at the source, scientists have both identified a key infection mechanism and a way to correct the defect. Their insights could help limit serious complications in CF patients.

News • Research explores key role of chromatin

Kabuki syndrome: new insights offer hope for therapies

New research has identified a previously unknown mechanism of Kabuki syndrome, a rare genetic disorder. The discovery could open new therapeutic perspectives.

News • Fluorescence lifetime imaging microscopy

New technique could aid targeted lung cancer treatment

Detecting genetic mutations associated with lung cancer via laboratory tests can be expensive and time-consuming, and use up valuable tissue from small biopsy samples. A new approach aims to fix this.

News • CRISPR-Cas9-based approach

New laboratory tool to find better treatments for resistant melanomas

Researchers have developed a new lab model to study BAP1-deficient melanomas, a rare type of melanoma that evade the immune system once they metastasize and are resistant to current immunotherapies.

News • Treatment-resistant tumours

Researchers tear off "invisibility cloak" of colon cancer

A study from the University of Calgary shows that removing a single gene makes colon cancer cells a target for immunotherapy — a fundamental breakthrough.

News • Intrahepatic cholestasis of pregnancy

ICP: Large-scale study sheds light on pregnancy-related liver disease

A new study uncovers new factors associated with ICP, a pregnancy-related liver disease. The findings open up new avenues for research into maternal health and pregnancy-related liver diseases.

News • OPTIMA trial results

Gene test could safely spare breast cancer patients of chemotherapy

Many people with breast cancer can avoid chemotherapy with a gene test, potentially sparing them side effects without increasing the risk of the cancer returning, a clinical trial has found.

News • Amyotrophic lateral sclerosis

ALS subtypes: why pathology spreads differently among patients

New research has found that a genetic factor best known for increasing the risk of Alzheimer's disease, may also influence how pathological changes spread in amyotrophic lateral sclerosis (ALS).

News • Research

CRISPR tool targets cancer and virus-infected cells precisely

A CRISPR-based tool called Cas12a2 can selectively eliminate cancer and virus-infected cells based on their RNA signature – with high precision and no off-target effects.

News • mRNA-based strategy

Cystic fibrosis: new study identifies gene therapy

Now, a new study identified a gene therapy for individuals with cystic fibrosis (CF) caused by a specific mutation and for whom there was no treatment available until now.

News • Focal cortical dysplasia

Lab-grown mini-brains shed light on childhood epilepsy

Why does the same genetic mutation cause FCDII in some patients but not in others? Researchers developed organoids to model a brain malformation responsible for drug-resistant epilepsy in children.

News • Genetic CAD risk scores

Researchers link diabetes subgroups to coronary heart disease risk

Researchers have now investigated whether a person’s genetic predisposition to different diabetes subgroups can help assess the risk of developing coronary artery disease.

News • Common comorbidity

Researchers find genetic link between type 2 diabetes and hypertension

Type 2 diabetes and high blood pressure share a genetic link, new research from the UK and France shows. People with one condition are more likely to develop the other.

News • CTNNB1 in focus

Mutation strength may hold key to personalized cancer treatment

Not all cancer mutations are equal: new research shows that a single mutation hotspot can generate a rich diversity of tumour behaviours. This could lead to more personalised cancer treatments.

News • Neurosciences

New insights on the onset of Huntington's disease

Why does Huntington’s disease begin at very different ages? Using advanced AI techniques, neuroscientists from the University of Barcelona found a way to better answer this question.

News • Exploring the mutational landscape

Colorectal cancer: DNA testing unlocks hereditary clues

DNA analysis of colorectal polyps provides important additional information on the development of these polyps and colorectal cancer, research finds. This leads to better diagnostics and treatment.

News • Intragenic complementation

Rare disease genetics: two wrongs actually can make a right, study shows

Scientists have overturned a long-held belief in genetics: that inheriting two harmful variants in the same gene always worsens disease. Instead, this can actually restore normal protein function.

Article • Personalised medicine

Gene-editing technologies: from lab to patient

Gene-editing technologies show great promise for medical treatments and research, with the potential to cure thousands of genetic diseases. At the 2025 World Medical Innovation Forum in Boston, leading experts explored the possibilities and challenges of these rapidly advancing tools. The case of Baby KJ Muldoon – an infant treated with a personalised CRISPR therapy developed in just seven…

News • Genetic risk-based approach

Enhancing breast cancer screening to save young women’s lives

Breast cancer screening for women under 50 isn't cost-effective – yet 1 in 5 diagnoses occurs in this age group. A new study suggests a personalised approach that could change this equation.

News • Ultrasound-guided gene therapy

New approach for targeted seizure control without surgery

New hope for patients with neurological diseases: A combination of focused ultrasound and gene therapy enables targeted, nonsurgical control of seizure-relevant brain regions.

Innovative biomedical solutions from Taipei presented at MEDICA 2025

With Taipei City Government's support, six Taipei companies will showcase innovative biotech and medical device solutions at MEDICA 2025 (Nov 17–20, Düsseldorf), advancing healthcare with speed and precision.

News • Genomic care in the NICU

World record for fastest whole genome sequencing paves the way for POCT usage

In the NICU, a few hours can mean the difference between unnecessary procedures and targeted, life-saving treatment. A new speed record for WGS opens new diagnostic possibilities.

News • Study explores clinical potential of WGS

Whole genome sequencing could help 15,000 breast cancer patients per year, study finds

Breast cancer claims around 670.000 lives each year. Now, researchers propose that whole genome sequencing (WGS) could help many patients find better treatments or match them with clinical trials.

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