Rare Diseases Related News
NHS rapidly rolls out new graft versus host disease treatment
The NHS has announced it will fast-track a groundbreaking therapy called Belumosudil to treat graft versus host disease.
Making rare disease medicines less rare: The EU must take this opportunity to effect...
Revision of the OMP Regulation holds opportunities for improving the lives of those living with a rare disease.
Vitamin B5 could be the key to improving myelodysplastic syndrome care
Vitamin B5 could improve the production of red blood cells in myelodysplastic syndrome patients, according to new research from Queen Mary University of London.
Researchers...
Genetic link discovered between Duchenne muscular dystrophy and cancer
Researchers from the University of Portsmouth have identified a novel genetic link between Duchenne muscular dystrophy and cancer.
The muscle-wasting disease Duchenne muscular dystrophy is...
Life-saving metachromatic leukodystrophy treatment used for the first time in the UK
A 19-month-year-old girl has become the first child in the UK to receive a life-saving gene therapy for metachromatic leukodystrophy.
The gene therapy, known by...
Researchers identify new treatment options for uveal melanoma
Researchers have found a candidate drug and biomarker that could be used to treat uveal melanoma, a rare eye cancer.
Uveal melanoma (UM) is a...
Improving the treatment and diagnosis of methylmalonic aciduria
A combined research team from Switzerland is developing new tools for the diagnosis and treatment of the rare disease, methylmalonic aciduria.
Methylmalonic aciduria is a...
Understanding the neuronal identity behind Weiss-Kruszka syndrome
Researchers from the Austrian Academy of Sciences and the University of Southern California have uncovered the molecular mechanism behind Weiss-Kruszka syndrome.
Weiss-Kruszka syndrome is a...
Genome sequencing could improve routine care of rare diseases
Introducing genome sequencing into the routine care of inherited rare and serious conditions could improve disease management.
Standard genetic testing typically focuses on a small...
Personalised genetic sequencing can help diagnose rare diseases
Tailoring genetic sequencing to individual patients could double the diagnostic rates of rare diseases, according to researchers from University College London.
The UK Department of...
Clinical guidelines for Schaaf-yang syndrome have been released
The first clinical guidelines on the ultra-rare disease, Schaaf-yang syndrome, have been released, aiming to improve knowledge and treatment of the condition.
The guidelines are...
NHS to deliver world-first national genetic screening service for children
The NHS will introduce a groundbreaking genetic screening service hailed as the start of a “new era of genomic medicine”.
At the first-ever NHS genomics...
Reusable contact lenses increase Acanthamoeba keratitis risk
People who wear reusable contact lenses are nearly four times more likely to develop Acanthamoeba keratitis compared to daily disposable users.
New research by University...
New research can help create new treatments for cystinosis
A new study into the functions of the cystinosin transporter protein may lead to better treatment of the devastating genetic disease cystinosis.
Cystinosis is a...
Researchers identify link between disrupted enzyme and intellectual disability
A new study from the University of Tokyo and the University of Nagoya shows how a rare genetic mutation can lead to intellectual disability.
It...
Rare genetic disorders in children increase the risk of developmental problems
A study has found that children with rare genetic disorders have an increased risk of developmental, behavioural, and mental health problems.
University of Cambridge researchers...
Scientists discover a new cystic fibrosis treatment approach
Emerging research from Cold Spring Harbour could mean a new cystic fibrosis treatment is on the horizon.
The latest cystic fibrosis treatment method, headed by...
Stem cells uncover groundbreaking insight into Wiskott-Aldrich syndrome
A stem cell study could revolutionise treatment for Wiskott-Aldrich syndrome, a rare immune disease.
Wiskott-Aldrich syndrome is a rare immune disease, leading to higher susceptibility...
Broadening the availability of orphan drugs
Ahead of the EU’s revision of the regulatory framework governing orphan drugs, we spoke to the European Medicines Agency about some of the key...
Improving rare disease treatment and care
With no cure available for the majority of rare diseases, HEQ spoke to Dr David A. Pearce from the International Rare Diseases Research Consortium...
