Rare Disease News and Research

RSS

Global cancer cases and deaths expected to soar by 2050 despite advances in treatment

There has been a rapid increase in the global number of cancer cases and deaths between 1990 and 2023, despite advances in cancer treatment and efforts to tackle cancer risk factors over that same time period.

24 Sep 2025

A single drug stabilizes nearly all mutations of key kidney protein

A study published today in Nature Structural & Molecular Biology is the first time researchers have shown evidence that a single drug, already licensed for medical use, can stabilize nearly all mutated versions of a human protein, regardless of where the mutation is in the sequence.

23 Sep 2025

CHAPPER healthcare, AscellaHealth’s global pharmaceutical distributor, assumes presidency of EUROPACCESS, enhancing access to innovative medicines

CHAPPER healthcare, AscellaHealth’s global pharmaceutical wholesaler, distributor and commercialization service provider, announces its appointment as president of EUROPACCESS, a strategic joint venture of seven pharmaceutical service providers across Europe.

From AscellaHealth, LLC. 16 Sep 2025

NIH awards over 8.6 million grant to advance research on rare developmental synaptopathies

Mustafa Sahin, MD, PhD, Neurologist-in-Chief and Chair of the Department of Neurology at Boston Children's Hospital, and his collaborators have been awarded an NIH grant of over $8.6 million for the third five-year cycle of the Rare Disease Clinical Research Network (RDCRN) project, "Developmental Synaptopathies Associated with TSC, PTEN, SHANK3, and SynGAP1 Pathogenic Variants".

15 Sep 2025

CRISPR-based therapeutic approach designed to treat fatal pediatric disease

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection (tearing) and death in childhood.

11 Sep 2025

Somatic mutations drive vascular aging and muscle weakness over time

Two new studies from Karolinska Institutet in Sweden have investigated how mutations that occur in muscles and blood vessels over time can affect aging.

20 Aug 2025

Prime editing reverses symptoms of severe childhood neurological disease

Scientists use a precise form of gene editing called prime editing to correct the most common genetic mutations that cause alternating hemiplegia of childhood, a rare and severe neurological disorder that begins in infancy.

From The Jackson Labs 6 Aug 2025

Researchers discover amyloid protein buildup in bone marrow of aging mice

A recent study led by a team of researchers at The Johns Hopkins University School of Medicine examining aging mice has provided what is believed to be the first evidence that amyloid beta protein-small, sticky protein fragment found in people with Alzheimer's disease (AD)-particles build up in the bone marrow of the animals, although not in the exact same form as the large, dense plaques found in the brains of people with Alzheimer's disease.

5 Aug 2025

Researchers classify how specific genetic mutations correspond to rare disorders

The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene.

30 Jul 2025

Scientists open new atlas of genetic diversity with advanced sequencing

A global team mapped over 100,000 structural variants in human genomes by applying Oxford Nanopore long-read sequencing and a novel graph-based analytical approach to samples from 26 populations. The study reveals the extraordinary complexity and diversity of human DNA, providing an open-access atlas that will accelerate discoveries in genetic disease and human evolution.

24 Jul 2025

Weill Cornell Medicine launches study to advance treatments for rare neurological disorder

A $1.1 million grant from the parent-caregiver-led Rare Bird Foundation to Weill Cornell Medicine is supporting the launch of a natural history study for a rare neurodevelopmental disorder that causes developmental delays and seizures called MEF2C Haploinsufficiency syndrome (MCHS).

23 Jul 2025

Prime editing reverses symptoms of severe childhood neurological disease

21 Jul 2025

Gene editing in the brain offers hope for ultra-rare neurological disease

Scientists have corrected gene mutations in mice causing an ultra-rare disease by editing DNA directly in the brain with a single injection, a feat with profound implications for patients with neurological diseases.

21 Jul 2025

New research offers hope to preserve vision in autosomal dominant optic atrophy

Autosomal dominant optic atrophy (ADOA), the most common genetic optic neuropathy, is an insidious disease. It often presents slowly during childhood by way of blurry vision, trouble reading or focusing, and sometimes only as a failed vision test.

16 Jul 2025

Experimental treatment reverses paralysis in child with rare mitochondrial disease

The value of a recent biochemical discovery can be seen in the case of an 8-year-old boy. In August 2023 he was able to play typical sports, but by November he needed a wheelchair because of a rare disease that caused worsening paralysis.

9 Jul 2025

New funding brings personalized CRISPR cures closer to children with rare diseases

Personalized CRISPR cures for children born with rare genetic diseases are now a step closer to being more widely available.

8 Jul 2025

Breakthrough AI uncovers promising Rett syndrome treatment

Rett syndrome is a devastating rare genetic childhood disorder primarily affecting girls. Merely 1 out of 10,000 girls are born with it and much fewer boys.

2 Jul 2025

Can your athletic past raise your risk for atrial fibrillation?

Elite retired rowers face a nearly threefold increased risk of atrial fibrillation compared to the general population, driven by a combination of long-term cardiac remodelling and underlying polygenic genetic susceptibility.

26 Jun 2025

Driving breakthroughs for the NF community at the 2025 NF Conference

A new era is unfolding for the NF community. With two FDA-approved treatments now on the market - including the first-ever therapy for adults with NF1 - and cutting-edge advances in AI, drug repositioning, and precision medicine, momentum is building like never before.

20 Jun 2025

CAR T-cell therapy successfully treats rare autoimmune disease of the peripheral nervous system

Physicians from Bochum have used a cancer treatment method to treat severe autoimmune diseases.

18 Jun 2025

Rare Disease News and Research

Global cancer cases and deaths expected to soar by 2050 despite advances in treatment

A single drug stabilizes nearly all mutations of key kidney protein

CHAPPER healthcare, AscellaHealth’s global pharmaceutical distributor, assumes presidency of EUROPACCESS, enhancing access to innovative medicines

NIH awards over 8.6 million grant to advance research on rare developmental synaptopathies

CRISPR-based therapeutic approach designed to treat fatal pediatric disease

Somatic mutations drive vascular aging and muscle weakness over time

Prime editing reverses symptoms of severe childhood neurological disease

Researchers discover amyloid protein buildup in bone marrow of aging mice

Researchers classify how specific genetic mutations correspond to rare disorders

Scientists open new atlas of genetic diversity with advanced sequencing

Weill Cornell Medicine launches study to advance treatments for rare neurological disorder

Prime editing reverses symptoms of severe childhood neurological disease

Gene editing in the brain offers hope for ultra-rare neurological disease

New research offers hope to preserve vision in autosomal dominant optic atrophy

Experimental treatment reverses paralysis in child with rare mitochondrial disease

New funding brings personalized CRISPR cures closer to children with rare diseases

Breakthrough AI uncovers promising Rett syndrome treatment

Can your athletic past raise your risk for atrial fibrillation?

Driving breakthroughs for the NF community at the 2025 NF Conference

CAR T-cell therapy successfully treats rare autoimmune disease of the peripheral nervous system

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

Latest News