Genomics

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Genetic research identifies rare DNA changes causing common heart valve defect

New clues from genetic research may help explain what causes the most common heart defect present at birth.

24 Apr 2026

Elite footballers show ancestry-related differences in cardiovascular evaluation

Elite footballers of Black ethnicity show important ancestry-related differences in cardiac adaptation.

24 Apr 2026

New model improves detection of Li-Fraumeni Syndrome risk

In a prospective validation study, researchers at The University of Texas MD Anderson Cancer Center demonstrated that a new mathematical model, called LFSPRO, was effective in supporting genetic counselor decision-making and more accurately predicted individuals at higher risk of Li-Fraumeni Syndrome (LFS), a hereditary condition that carries a higher risk of developing multiple cancers.

23 Apr 2026

Study maps the evolution of myeloid leukemia in children with Down syndrome

It may be possible to identify which pre-cancerous cells will develop into a rare type of blood cancer, due to new research showing that a single genetic change drives myeloid leukemia in children with Down syndrome.

23 Apr 2026

Study reveals genetic factors influencing SYNGAP1 encephalopathy disease severity

SYNGAP1 encephalopathy is a rare genetic disorder for which there is no treatment, causing epilepsy, intellectual disability, psychomotor delay and, frequently, autism.

22 Apr 2026

McMaster researchers identify new DNA region linked to frailty

Researchers at McMaster University have identified, for the first time, a novel region of DNA and two associated genes connected to frailty, offering neurological and immune-related insights that might help explain why some older adults are more likely to be frail than others.

22 Apr 2026

Epigenome proteins shape dynamic gene expression beyond simple on-off

A new study finds the proteins responsible for controlling which genes are expressed in a genome do more than simply turn a gene on or off.

21 Apr 2026

Common gene in axolotls, mice and zebrafish may unlock human limb regrowth

Investigating a common gene in three very different species – axolotls, mice and zebrafish – scientists have discovered the potential for a novel gene therapy aimed at eventually regrowing limbs in humans, according to new research published this week.

21 Apr 2026

New study reveals CRISPR enzyme that responds to human DNA methylation

Cancer cells excel at evading detection, but subtle chemical differences set them apart from healthy cells. Now, a team of scientists from Wageningen University & Research and Van Andel Institute has identified a way to exploit this distinction. Using a variant of CRISPR, a modern tool for editing DNA, they distinguished tumor DNA from healthy DNA and selectively cut only the former. The study, published today in Nature, is an early but promising step toward a cancer therapy that targets and destroys tumor cells with high precision.

20 Apr 2026

Nature-inspired vesicles offer new path for precision medicine therapies

A quiet revolution is underway in modern medicine: Drug development is aiming to move from managing disease to correcting it through RNA and gene-editing therapies.

17 Apr 2026

Key gene variants tied to developmental dysplasia of the hip and osteoarthritis

Developmental dysplasia of the hip (DDH) is a polygenetic disorder that increases the risk of hip osteoarthritis.

17 Apr 2026

Migraine genes linked to worse headaches after concussion in children

A University of Calgary-led study has found evidence that children with genes predisposing to migraine might have an increased risk of having more headaches after a concussion, which are known to be linked to prolonged symptoms up to six-months after the injury.

15 Apr 2026

New RNA sequencing method improves rare disease diagnosis

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.

15 Apr 2026

Parents' genes shape children's mental health beyond inherited DNA

What if some of the risk of anxiety and depression in children is not only about the genes they inherit, but also about their parents' genetic dispositions and how these influence the home environment?

15 Apr 2026

New CRISPR tool selectively cuts tumor DNA while sparing healthy cells

Cancer cells excel at evading detection, but subtle chemical differences set them apart from healthy cells.

15 Apr 2026

African health expert: genomic sequencing enables near real-time pathogen detection

Advanced genomic sequencing techniques, like mNGS, are essential for accurate pathogen detection, crucial for effective outbreak response and patient care.

From BGI Genomics 15 Apr 2026

SPT Labtech and EMBL GeneCore collaborate to advance fully walkaway automation in genomics workflows

SPT Labtech, a global leader in the design and development of laboratory automation and liquid handling solutions, and the European Molecular Biology Laboratory's Genomics Core Facility (EMBL GeneCore), today announced a collaboration to advance fully walkaway automated genomics workflows.

From SPT Labtech 15 Apr 2026

Scientists use whole exome sequencing to discover a new rare genetic disease

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators used a genetic sequencing technique called whole exome sequencing to discover a new rare genetic disease.

13 Apr 2026

Protein complex cohesin found essential for guiding cell identity decisions

Temporarily disabling a protein complex that organizes DNA into loops inside the cell's nucleus drastically disrupted the three-dimensional structure of the genome, but surprisingly most genes continued to function as usual, Weill Cornell Medicine researchers found.

13 Apr 2026

Genetic variants may reduce effectiveness of popular diabetes drugs

More than a quarter of people with Type 2 diabetes take GLP-1 receptor agonists, but the popular diabetes drugs might not work as well for people who have certain genetic variants, according to a new study by Stanford Medicine scientists and their collaborators.

12 Apr 2026