Rare Disease News and Research

RSS

New method can create reliable growth charts for children with rare genetic disorders

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by the University of Bristol.

13 Oct 2025

Survey reveals strong support for patient involvement in allergy research

A team of researchers from Keio University School of Medicine, the Institute of Medical Science at the University of Tokyo, and the National Center for Child Health and Development has reported the first cross-disease, cross-stakeholder survey on PPIE in Japan.

9 Oct 2025

Wasatch Biolabs expands service portfolio with Oxford Nanopore assays in Pharmacogenomics, Telomere Sequencing, and mRNA Vaccine Quality Control

Wasatch BioLabs (WBL), a Renew Biotechnologies subsidiary, and the largest U.S. sequencing service provider dedicated exclusively to long-read sequencing, today announced the addition of three Oxford Nanopore-developed research-use-only (RUO) assays to its service portfolio: a Pharmacogenomics (PgX) panel, Telomere Sequencing, and mRNA Vaccine Quality Control.

7 Oct 2025

NIH funds multi-state pilot for genome sequencing in newborn screening

Mass General Brigham and Ariadne Labs, alongside Boston Children's Hospital, Albert Einstein College of Medicine, the Association of Public Health Laboratories (APHL), Case Western Reserve University, Baylor College of Medicine, and sequencing partners GeneDx and Illumina, today announced the launch of BEACONS (Building Evidence and Collaboration for GenOmics in Nationwide Newborn Screening), the nation's first multi-state genomic newborn screening initiative.

2 Oct 2025

The World Orphan Drug Congress Europe heads to Amsterdam for the first time, uniting experts and leaders from rare disease research, patient advocacy, biotech, and pharma to make this the must-attend R&D event in Europe

Sessions will span the full spectrum of orphan drug development, including Regulatory & Policy, Gene and Cell Therapy, Clinical Trial Design, Pricing & Reimbursement, Real World Evidence, Patient Engagement, and more.

From World Orphan Drug Congress 2 Oct 2025

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

Rare Disease News and Research

New method can create reliable growth charts for children with rare genetic disorders

Survey reveals strong support for patient involvement in allergy research

Wasatch Biolabs expands service portfolio with Oxford Nanopore assays in Pharmacogenomics, Telomere Sequencing, and mRNA Vaccine Quality Control

NIH funds multi-state pilot for genome sequencing in newborn screening

The World Orphan Drug Congress Europe heads to Amsterdam for the first time, uniting experts and leaders from rare disease research, patient advocacy, biotech, and pharma to make this the must-attend R&D event in Europe

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

Industry Focus eBook - Cell & Gene Therapy (1st Edition) eBook

Advancing Neuroscience Research Through Collaboration and Patient-Centered Innovation

The impact of vibration on microscopy

How Omics Technologies Are Transforming Biological Research and Drug Discovery

Latest News