Rare Disease News and Research

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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

New RNA sequencing method improves rare disease diagnosis

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how genetic variants disrupt gene function and improve the diagnosis of rare diseases.

15 Apr 2026

Precision medicine tools offer hope for patients with rare blood cancers

Personalized approaches have dramatically improved outcomes for many patients with non-Hodgkin B-cell lymphomas—blood cancers that arise in immune cells called B cells—yet the same is not true for patients with more rare lymphoma types that originate in immune cells called T cells.

9 Apr 2026

Scientists find new genetic causes for diabetes in babies

Scientists have found new genetic causes for diabetes in babies – in a part of the genome that has historically been overlooked in genetic studies.

9 Apr 2026

New blood test spots four cancers and other diseases by stripping away healthy DNA noise

MethylScan is a new low-cost cell-free DNA methylome test that removes much of the healthy blood DNA background, helping rare disease signals stand out more clearly. In more than 1,000 people, it showed strong performance for detecting four cancers, classifying liver diseases, and identifying organ-specific damage.

7 Apr 2026

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

Scientists at Purdue University are using the WELLJET dispenser stacker from INTEGRA Biosciences to increase the speed, consistency and scale of drug screening for rare and neglected parasitic diseases.

1 Apr 2026

New initiative aims to scale individualized therapies for rare diseases

Critical Path Institute (C-Path) today announced the launch of One to Millions, a global, multi-stakeholder public-private initiative to enable scalable development of advanced therapies for highly individualized conditions.

26 Mar 2026

ESMO and EURACAN call for policy action to standardize care for patients with rare cancers

Adherence to Clinical Practice Guidelines in the management of rare cancers remains inconsistent across Europe despite demonstrably improving patient outcomes, shows an analysis jointly conducted by ESMO and EURACAN, the European Reference Network (ERN) for rare cancers.

13 Mar 2026

Viagra ingredient improves symptoms in patients with Leigh syndrome

Sildenafil – an active ingredient also marketed under the name of Viagra – improves symptoms in patients with Leigh syndrome.

11 Mar 2026

Global breast cancer burden rising fastest in low-income countries

Despite recent advancements in breast cancer treatments, new breast cancer cases in women are predicted to rise by a third globally from 2.3 million in 2023 to more than 3.5 million in 2050.

2 Mar 2026

Rare airway condition: Sarah Carroll's journey to breathing freely

"It was just really hard to breathe," says Sarah Carroll, recalling the earliest symptoms of idiopathic subglottic stenosis (iSGS). "It felt like there was something in my throat that was stopping me from breathing."

2 Mar 2026

Accelerating rare disease diagnosis with Mondo

Coryssa Barnes, of Henderson, N.C., welcomed her first child, Ezra, in 2020. At four months old, he was unable to sit without support. As time went on, he failed to reach other developmental milestones, prompting his worried parents to consult several medical experts.

2 Mar 2026

Common cardio drugs proven safe in myeloma patients

Commonly prescribed cardiovascular medications—such as statins, diuretics, and blood pressure drugs—appear to have little or no negative impact on survival among people living with multiple myeloma, according to new international research.

1 Mar 2026

Study aims to understand molecular origins of CTNNB1 neurodevelopmental syndrome

On the occasion of Rare Disease Day, the Biofisika Institute (CSIC, EHU) presents the progress of a project aimed at understanding the molecular origin of CTNNB1 neurodevelopmental syndrome, a rare disease caused by mutations in the beta-catenin protein.

27 Feb 2026

Privacy-focused AI improves screening for rare endocrinological condition

An AI can accurately diagnose a rare endocrinological condition just by analyzing pictures of the back of the hand and the clenched fist.

27 Feb 2026

Corneal nerve function declines with age in aniridia patients

Congenital aniridia is a rare disease caused, in most cases, by mutations in the PAX6 gene, which is essential for the development of ocular structures.

27 Feb 2026