Rare Disease News and Research

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Discovery of Glucocorticoid Receptor Multimerization Opens Path to Safer Therapies

Drugs to treat inflammatory and autoimmune diseases - such as asthma, psoriasis, rheumatoid arthritis or Chrousos syndrome - act mainly through the glucocorticoid receptor (GR).

28 Oct 2025

Longevity Gene from Centenarians Reverses Heart Damage in Rare Genetic Disorder

A new breakthrough in a rare genetic disease which causes children to age rapidly has been discovered using 'longevity genes' found in people who live exceptionally long lives - over 100 years old.

16 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

Engineered Base Editor Corrects ACTA2 Mutation in Rare Childhood Disease

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

13 Sep 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

Every Newborn Sequenced Within a Decade: What Does This Mean for Healthcare?

We spoke with Neil Ward from PacBio about England’s plan to introduce whole genome sequencing for every newborn, and how long-read technology is shaping the future of early diagnosis around the world.

29 Jul 2025

Gene Editing Reverses Symptoms of Rare Brain Disorder in Mice

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.

22 Jul 2025

New Discovery Explains Increased Infection Risk in Patients with Mitochondrial Diseases

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

21 May 2025

Genomics can Transform Care for Children with Rare Diseases

A simple genomics blood test could improve treatment and care for childhood epilepsy, but more investment is needed to make access fair and securely join up the data, finds a new study involving researchers at University College London (UCL) and Great Ormond Street Hospital for Children (GOSH).

8 Mar 2025

Long-Read Sequencing Brings New Hope for Rare Disease Diagnosis and Treatment

One in every 10 people worldwide is impacted by a rare genetic disease but about 50% of them remain undiagnosed despite rapid increases in genetic technology and testing.

27 Jan 2025

Microglia Response Varies Between Male and Female Mice

A collision happens. Someone is hurt, a head injury, a concussion. Just as the first responders arrive to help the person, inside the brain, another "crew" of responders is busy clearing debris and repairing injured tissue.

22 Jan 2025

Long Reads Show Promise for Diagnosing Rare Genetic Disorders

The cause of rare diseases is increasingly being detected through genome sequencing, which involves reading the entire human DNA by first breaking it into small pieces-short reads.

16 Jan 2025

Study Reveals Genetics Behind Dilated Cardiomyopathy

A potentially life-changing heart condition, dilated cardiomyopathy, can be caused by the cumulative influence of hundreds or thousands of genes and not just by a single "aberrant" genetic variant, as was previously thought, finds a new study led by researchers at UCL (University College London), Imperial College London and the MRC Laboratory of Medical Sciences.

23 Nov 2024