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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

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

Genome sequencing reveals clues about asymptomatic strep throat carriers

Streptococcal sore throat - strep throat for short - is one of the nastier maladies of childhood, causing fever, swollen tonsils, and the namesake sore throat.

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

Could scorpion venom inspire new treatments for liver disease?

Scorpion venom peptides show promising anti-inflammatory, antiviral, analgesic, and immunomodulatory effects, with experimental evidence suggesting that some candidates could target pathways involved in chronic liver disease and viral hepatitis. The review highlights Kv1.3-blocking peptides and antiviral compounds as potential therapeutic leads, while emphasizing that limited hepatic efficacy data, poor pharmacokinetics, immunogenicity, and manufacturing challenges must be overcome before clinical translation.

8 Sep 2026

Could one amino acid help explain why men tend to live shorter lives?

A UK Biobank cohort and Mendelian randomization study involving 272,475 participants linked higher circulating tyrosine with greater all-cause mortality and genetically predicted higher tyrosine with shorter lifespan. After accounting for phenylalanine, the relationship with shorter lifespan was clearest in men, while findings in women were less consistent, suggesting a potential sex-specific role for tyrosine in longevity.

7 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

New study uncovers bacterial route to testosterone production

Many prostate cancers depend on androgen hormones, including testosterone, to grow. That is why treatments for advanced disease often try to reduce testosterone production or block its effects.

4 Sep 2026

Ancient parchment reveals historical evolution of destructive sheeppox virus

Some of Europe's most well-known historic manuscripts, including the York Gospels, have proven to be biological time capsules for uncovering the 3,500-year history of the sheeppox virus (SPPV).

4 Sep 2026

What your genes can, and cannot, tell us about your personality

A meta-analysis of 46 cohorts involving 611,037 to 1.14 million participants identified 1,260 lead genetic variants associated with the Big Five personality traits, including 824 in previously unlinked genomic regions. The associations were broadly consistent across cohorts and measurement contexts, while polygenic analyses linked personality-related genetics to health, behavior, psychopathology, and life outcomes, although effects were modest and could not predict individual behavior.

3 Sep 2026

Study finds biases in tools predicting dangerous genetic mutations

When a patient has their DNA read, it gets compared against a reference version of the human genome. It allows geneticists and rare disease experts to look at a list of places where the patient's DNA differs.

3 Sep 2026

Cerebral palsy may be a trait rather than a disease

Historically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP in many children.

3 Sep 2026