Rare Disease News and Research

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Diaceutics launches Precision for All Strategic Collaboration at Fierce Pharma Week 2026

Intelligence and engagement company, Diaceutics, is bringing together senior voices from across the biopharmaceutical industry at the Precision for All Strategic Collaboration, launching at Fierce Pharma Week 2026.

From Diaceutics PLC 18 Sep 2026

More data, more answers? A 1.9 million-person health study shows why scale has limits

Researchers analyzed phenotypic and linked health-record data from more than 1.9 million adults in Our Future Health, comparing demographic characteristics, disease patterns, clinical associations, and rare-condition case counts with national data and other major cohorts. The cohort's size provides unusually large samples for many common and less common conditions, although its demographic composition and current data sources require careful consideration when interpreting population-level estimates.

14 Sep 2026

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

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

Researchers use an experimental drug to reverse the effects of systemic sclerosis

Investigators at Cedars-Sinai Health Sciences University used an experimental drug to reverse the effects of systemic sclerosis, a serious autoimmune disease. The study, conducted in a laboratory, was published in JCI Insight.

8 Sep 2026

Gut bacterial molecule discovered to drive serious bile duct disease

Researchers at the University of Oslo and Oslo University Hospital have, together with international collaborators, discovered that a small molecule made exclusively by gut bacteria can actively drive disease in the bile ducts and worsen primary sclerosing cholangitis (PSC), a serious liver and bile duct disease.

4 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

Digital technologies reshape clinical research and public health

JMIR Publications this week released seven feature News and Perspectives articles covering how digital tools are transforming clinical research, public health readiness, health care institutions, and consumer choices.

28 Aug 2026

Deliverome project maps cell surface proteins for better drug delivery

For a new drug to work in the human body, it must make its way to the exact cell type where it's needed and then, in many cases, get inside the cells.

21 Aug 2026

Genetic variants interact to increase early-onset atrial fibrillation risk

An estimated 10 million Americans have atrial fibrillation (AFib), according to the National Institutes of Health's National Heart, Lung, and Blood Institute.

31 Jul 2026

Taiwan Biobank data reveals ongoing natural selection in living humans

For more than a century, scientists have sought to reconstruct human evolution using diverse lines of evidence, including fossils, genetic variation across populations, and ancient DNA.

24 Jul 2026

Emerging PPAR therapies offer new hope for primary biliary cholangitis

Primary biliary cholangitis is a rare autoimmune disease that affects the liver and can progress to cirrhosis. It occurs when the immune system attacks the small bile ducts within the liver. As a result, bile builds up, leading to inflammation and progressive liver damage. Although a first-line treatment exists, 40% of patients do not respond adequately to it or cannot tolerate it, so new treatment options need to be developed.

23 Jul 2026

Scientists discover master regulator gene network behind complex psychiatric disorders

A study by the University of Barcelona has identified nearly 20 genes that could contribute to some people being more susceptible to depression, anxiety and traits such as irritability and neuroticism.

17 Jul 2026

Europe’s fragmented early access landscape intensifies need for operational strategy ahead of the 5th Operationalise: Early Access Programmes Summit Europe

Join industry leaders at the 2026 summit to discuss strategies for navigating early access programmes and improving patient access to investigational therapies.

From 5th Operationalise: Early Access Programmes Summit Europe 15 Jul 2026

Insilico and Bora Pharmaceuticals forge strategic AI-driven drug discovery alliance

Insilico Medicine, a clinical-stage generative artificial intelligence (AI)-driven drug discovery company, today announced a multi-target strategic alliance with Bora Pharmaceuticals Co., Ltd., a global leader in pharmaceutical manufacturing.

14 Jul 2026

AI errors shaped doctors’ judgments despite contradictory evidence

Two experiments involving 223 self-reported physicians found that incorrect AI patient classifications strongly influenced treatment decisions and effectiveness judgments. Even when patient outcomes contradicted the AI, participants struggled to revise their conclusions and, in one experiment, judged a completely ineffective treatment as beneficial.

13 Jul 2026

Physicians often trust incorrect AI treatment recommendations, study finds

In experiments in which physicians made decisions about treating hypothetical patients, the physicians tended to trust incorrect advice presented as being generated by artificial intelligence (AI), even after given the opportunity to notice that patient recovery data contradicted the recommendations.

9 Jul 2026

Purdue University accelerates rare disease drug discovery with the WELLJET dispenser stacker

Automated liquid handling with the WELLJET dispenser at Purdue accelerates drug discovery for neglected diseases, increasing throughput and reproducibility.

From INTEGRA Biosciences 9 Jul 2026

n6 launches icon16™, expanding AutoNorm™ adaptive amplification to lower-throughput NGS workflows

In 2024, n6 introduced icon96™, redefining expectations for PCR amplification in NGS library preparation.

From n6 7 Jul 2026