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Evaluating new approaches for rare disease research

Marcel Nelen discusses his team’s early evaluation of a new workflow for rare disease genomics.

From Illumina, Inc. 10 Sep 2026

Blood protein profiling could improve rare disease diagnosis

Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping to identify diagnoses and potential new disease-causing genes that genome sequencing alone has been unable to resolve.

9 Sep 2026

Spleen imaging features may reveal coronary artery disease risk

A new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person's risk of coronary artery disease (CAD), suggesting targets for prevention and treatment.

9 Sep 2026

C. diff uses dual-threat sensing system to survive gut stress

The pathogen Clostridioides difficile (C. diff) - a leading cause of hospital-acquired infections - must contend with a variety of threats inside the harsh environment of the gut to survive and grow.

9 Sep 2026

Study reveals processes driving DNA damage in prostate cancer

Cancer begins with errors in the DNA inside our cells, and those errors are often more complicated than a handful of mutated genes.

9 Sep 2026

New base editing techniques accurately modify genes in human embryos

A study by researchers at Columbia University Vagelos College of Physicians and Surgeons has found that new cutting-edge techniques can accurately edit genes in human embryos-giving scientists indispensable tools for understanding normal human development-but has also uncovered important risks that currently preclude the use of the techniques in the clinic.

9 Sep 2026

New genetic map helps track aggressive prostate cancer development

Prostate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while in others it progresses aggressively.

9 Sep 2026

New genomic language AI model excels in predicting the pathogenicity of genetic variants

More than two decades after scientists first sequenced the entire human genome - all 3 billion "letters," or base pairs, of DNA code - the meaning of much of this code remains a mystery.

9 Sep 2026

Caloric restriction reduces genetic mutations across the mouse genome

Mutations are changes in the molecular "letters" that make up DNA, the genetic blueprint for cells. Mutations build up with age in every cell when DNA is damaged or when cells make mistakes in fixing or copying it.

9 Sep 2026

AlphaGenome Atlas maps billions of genetic changes with AI

The human genome contains approximately 3 billion DNA letters, creating more than 9 billion possible single-letter changes.

9 Sep 2026

Astrocyte changes may explain how stress affects mental health

A new study led by UCLA Health researchers has identified a specific type of brain cell and a tiny structure on its surface that changes when the body is under stress, which may help explain why stress can lead to anxiety and depression.

8 Sep 2026

Cognitive behavioral therapy for insomnia may slow biological aging in older adults

A new UCLA Health study found that treatment of insomnia using cognitive behavioral therapy slowed the pace of biological aging in older adults.

8 Sep 2026

River-type drinking water sources generally carry higher antibiotic resistance risks

Antibiotic resistance is increasingly recognized as a major public health and environmental challenge, yet the risks are not evenly distributed across aquatic environments.

8 Sep 2026

Study identifies 14 egg-layer gene variants linked to female infertility

Researchers determine 14 variants in the egg's protective layer associated with female infertility which can affect assisted reproductive technology outcomes.

8 Sep 2026

Two collagen receptors cooperate to enhance cranial bone regeneration

Bone repair depends on skeletal progenitor cells (SPCs) moving to injured areas and developing into bone-forming cells, but how these cells respond to their surroundings remains unclear.

8 Sep 2026

New AI model decodes chemical signals guiding embryonic cell development

As an embryo develops from a small cluster of stem cells, those once "blank slate" cells begin to take on more specialized roles like brain, liver, or muscle cells, and organize themselves into three-dimensional structures such as tissues and organs.

8 Sep 2026

New study reveals euchromatin forms dynamic condensed domains in cells

The human genome is about two meters long, yet it is folded inside a cell nucleus only about 10 micrometers in diameter.

8 Sep 2026

Advancing intracellular delivery with LumiPore®: A new approach to cell transfection and drug discovery

Discover how LumiPore improves intracellular delivery with gentle, high-efficiency transfection for drug discovery and cell therapy research.

From Trince 8 Sep 2026

The vaginal microbiome may be an overlooked reservoir of antibiotic resistance

Researchers analyzed 1,957 vaginal metagenomic samples from 1,547 pregnant women and found that bacterial community structure was strongly associated with the diversity and distribution of clinically relevant antibiotic resistance genes. Lactobacillus crispatus-dominated communities carried comparatively few acquired resistance genes, while L. iners-dominated and anaerobe-rich communities showed greater resistance diversity, with PPROM associated with broader predicted resistance profiles among ARG-positive samples.

7 Sep 2026

Scientists traced a hidden immune route that may worsen tau-linked brain damage

In a mouse model of tauopathy, conventional type 1 dendritic cells (cDC1s) cross-presented brain-derived antigens in deep cervical lymph nodes, priming CD8+ T cells that accumulated in the brain and promoted neurodegeneration. Disrupting cDC1s or their cross-presentation activity reduced CD8+ T-cell infiltration and protected against neuronal loss, while human primary tauopathy samples also showed increased brain CD8+ T cells, although cDC1 involvement in humans remains unconfirmed.

6 Sep 2026