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graft versus host disease

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.
The potential of stem cell therapy for Hirschsprung disease

The potential of stem cell therapy for Hirschsprung disease

A new study by researchers at University College London and the University of Sheffield has shown the potential of stem cell therapy to treat...
New blood test may prevent sudden child deaths from hypertrophic cardiomyopathy

New blood test may prevent sudden child deaths from hypertrophic cardiomyopathy

Researchers at University College London and Great Ormond Street Hospital (GOSH) have developed a new blood test that could identify children with hypertrophic cardiomyopathy,...
Rare 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 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

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

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 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

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

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

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

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 SYS have been released

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 

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

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

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

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

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 

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

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...

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