Rare Disease News and Research

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Advancing Motor Neuron Disease Diagnosis with Non-Invasive Ultrasound and AI

Research led by Professor Hodson-Tole combines ultrasound and AI to improve motor neuron disease diagnosis, reducing reliance on invasive procedures.

6 Jul 2026

Rare genetic condition offers new insights into human aging process

Scientists have discovered a rare genetic condition which causes people to age at a much faster rate, offering fresh insights into the aging process.

30 Jun 2026

Pioneering gene therapy for rare immune disorder shows promise in early pre-clinical studies

The development of a pioneering gene therapy to treat a devastating, rare immune disorder led by UCL scientists is set to move into its next phase following promising early pre-clinical studies.

27 Jun 2026

Discovery of karyoptosis opens new therapeutic targets for Alzheimer's and frontotemporal dementia

Markers of a new mechanism for cell death, called karyoptosis, have been found in brains of patients with Alzheimer's disease and frontotemporal dementia (FTD).

25 Jun 2026

Open source tool automates data reanalysis to detect rare diseases

A newly developed open-source tool designed for rigorous reanalysis of genomic data is highly effective at detecting new rare disease diagnoses.

24 Jun 2026

Gene therapy shows promise against deadly childhood liver disease

A new gene therapy has been used to successfully treat a deadly childhood liver disease using mice that model this disease by researchers at UCL and Great Ormond Street Hospital.

23 Jun 2026

Gene therapy successfully treats deadly childhood liver disease in mice

A new gene therapy has been used to successfully treat a deadly childhood liver disease using mice that model this disease by researchers at UCL and Great Ormond Street Hospital.

19 Jun 2026

New DNA test improves diagnosis of rare genetic disorders

A new test provides a much more complete picture of DNA than current standard diagnostics and leads to a diagnosis more often.

13 Jun 2026

New genetic driver found for rare small intestinal cancers

A signaling system known as the Wnt pathway plays a central role in how cells in the intestine grow, divide, and renew themselves.

12 Jun 2026

Study identifies an important driver of inflammatory bowel disease

Researchers at the Nuffield Department of Medicine, University of Oxford, together with Newcastle University's Translational and Clinical Research Institute and the Department of Immunology at Cambridge University Hospitals NHS Foundation Trust, have identified an important driver of inflammatory bowel disease (IBD).

10 Jun 2026

Grant fuels research into SYNGAP1-linked behavioral abnormalities

CURE SYNGAP1 501(c)(3) is pleased to announce a $130,000 grant to Dr. Helen Willsey and Dr. David Kastner at the University of California, San Francisco (UCSF).

5 Jun 2026

Hidden junk DNA could play decisive role in cancer

Many repetitive regions of the genome have been considered "junk DNA" because the technologies available did not allow them to be studied at sufficient resolution.

5 Jun 2026

Genetic testing identifies cause of pancreatic agenesis in infants

The DNA changes responsible for a rare genetic condition causing babies to be born without a pancreas can now be identified in almost all affected children through genetic testing.

1 Jun 2026

New computational tool uses plain language for genetic diagnosis

A new computational tool called MARRVEL-MCP helps researchers move toward genetic diagnoses more efficiently by analyzing and interpreting vast amounts of genetic and biological information using everyday language.

21 May 2026

Phase two clinical trial demonstrates dramatic mobility gains in children with severe fibrous dysplasia

Fibrous dysplasia is a rare skeletal disorder in which normal bone is gradually replaced by weak fibro-osseous tissue, leading to fractures, pain, deformities, and severe mobility impairment. In many patients, diseased bone tissue produces excessive amounts of fibroblast growth factor-23 (FGF23), a hormone that causes phosphate loss through the kidneys.

21 May 2026

Exhausted brain immune cells drive aggressive multiple system atrophy

A rare and fatal brain disorder with no available treatment or cure. One that attacks the nervous system, balance, and the ability to move.

18 May 2026

Base editing approach repairs deadly Dravet syndrome mutation in mice

Gene editing can repair a DNA error in mice that causes Dravet syndrome, a rare, incurable, and potentially deadly form of childhood epilepsy. After the edit, the mice have far fewer seizures and live much longer.

13 May 2026

BGI Genomics joins HGP2 Rare Disease Alliance to close rare disease care gap in Asia-Pacific

The HGP2 RaDiAnce-APAC initiative enhances rare disease diagnosis and genomic medicine, fostering collaboration for improved health in the Asia-Pacific region.

From BGI Genomics 12 May 2026

Advanced AI models outperform pediatricians in diagnosing rare diseases

Artificial intelligence (AI) is increasingly being explored as a tool to support clinical decision-making, yet its real-world performance in pediatric diagnosis remains unclear.

4 May 2026

Early genomic testing prevents years of inconclusive visits for pediatric patients

For many families, eight years of uncertainty meant repeated specialist visits, inconclusive genetic tests and the growing fear that a clear answer might never come. For nearly half of the children enrolled in the Telethon Undiagnosed Disease Program (TUDP), that wait is now over.

21 Apr 2026