Rare Disease News and Research

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Novel method identifies active tRNAs during cellular protein synthesis

In a new study in Nature Methods, researchers at the Centre for Genomic Regulation (CRG) in Barcelona describe a technique that looks only at the tRNAs on ribosomes busy making proteins.

5 Nov 2026

Greenwood Genetic Center researcher wins major grant to explore cellular metabolism and glycosylation

Heather Flanagan-Steet, PhD, Associate Director of Research at the Greenwood Genetic Center (GGC), has received a $1.4 million, five-year Maximizing Investigators' Research Award (MIRA) R35 grant from the National Institutes of Health's National Institute of General Medical Sciences.

21 Oct 2026

A study of 62.5 million people reveals what broad ethnic labels miss about rare diseases

Researchers analyzing health records from 62.5 million people in England found that the prevalence of 406 rare diseases varied substantially between ethnic communities, with important differences concealed by broad ethnic classifications. Recorded COVID-19 infections were also more common among people with the studied rare diseases (32.8% versus 29.0%), although differences in age, disease composition, and testing practices may have influenced these findings.

19 Oct 2026

Three NHS genetics labs fail to routinely share vital variant data

Three out of England's seven NHS genetics laboratories are failing to routinely share vital information about genetic variants in public databases that helps patients with rare diseases access diagnosis and care, reveals an investigation by The BMJ today.

8 Oct 2026

NIH awards $7.6 million grant to advance polyaminopathy research

A first-of-its-kind NIH grant was awarded to Michigan State University College of Human Medicine and Corewell Health. Co-investigators André Bachmann, PhD, MS, professor and associate chair for research in the MSU Department of Pediatrics and Human Development, and Caleb Bupp, MD, FACMG, division chief of Medical Genetics and Genomics at Corewell Health Helen DeVos Children's Hospital, will advance understanding of how polyaminopathies work.

29 Sep 2026

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