Rare Diseases Related News
Examining the impact of COVID-19 on the rare diseases community
An online survey launched by the National Institutes of Health-supported (NIH) Rare Diseases Clinical Research Network (RDCRN) aims to find out how the COVID-19...
Health Europa Quarterly Issue 14
Welcome to issue 14 of Health Europa Quarterly, which once again is inexorably overshadowed by the global COVID-19 pandemic.
As lockdown restrictions begin to lift...
Understanding MPS and other similar Lysosomal diseases
MPS Austria wants to make everyday life easier for children with Mucopolysaccharidosis and other similar Lysosomal diseases, and their families, by supporting them with...
Prion disease: potential treatment discovered by researchers
Researchers have discovered a possible effective treatment strategy for patients suffering from prion disease.
The study, published in Nucleic Acids Research by Oxford University Press,...
Rare diseases: innovation, collaboration, and genomics
Professor Hackett discusses public-private collaboration, secure data sharing, and the potential of genomic sequencing for the treatment of rare diseases.
Professor Joanne Hackett, General Partner,...
Promise of a new route of treatment for Huntington’s Disease
An enzyme has been identified that can pave the way for the development of a new route of treatment for Huntington's Disease.
Scientists at EPFL's...
Molecular cause explains a genetic form of microcephaly
Scientists have helped to explain a genetic form of microcephaly by uncovering a molecular cause for the rare disease.
Microcephaly is a condition where babies'...
Potential treatment for rare degenerative disease discovered
Researchers have discovered a potential treatment for the rare Wolfram Syndrome – a degenerative disease.
Researchers from Yale have uncovered the mechanism behind a rare...
Flaccid myelitis: researchers identify antibodies for rare children’s disease
Protective antibodies for the rare children’s disease – flaccid myelitis – have been identified by researchers, who hope the find could lead to future...
Genome sequencing: novel genetic cause of rare diseases discovered
A new study has discovered novel genetic causes of rare diseases which researchers believe could lead to the improvement of diagnosis and patient care.
A...
Experimental cancer drug is potential treatment for rare Rett syndrome
Scientists have investigated the use of an experimental cancer drug for the treatment of the rare Rett syndrome, finding that it extended life in...
Doctors examine best treatment options for rare type of stroke
A new study has set out to assess the best option for the treatment of a rare type of stroke known as a nontraumatic...
‘Immune cleanup’ could offer treatment for rare disorder
Researchers have discovered how stimulating an ‘immune cleanup’ could offer a potential treatment for people suffering from a rare disorder named leukocyte adhesion deficiency...
Ménière’s disease: how x-ray technology is teaching us about the disease
Ménière's disease is a condition that affects the inner ear, causing problems such as tinnitus, hearing loss, a feeling of pressure in the ear,...
Health Europa Quarterly Issue 13
Welcome to Health Europa Quarterly Issue 13, which focuses – inevitably – on issues surrounding the Covid-19 pandemic, from the importance of hand hygiene...
Mutation discovery could lead to treatment for rare neurological disorder
A team of researchers have discovered a mutation in a protein that can cause a rare neurological disorder – leading to the identification of...
A spotlight on MPS Austria
Speaking to Health Europa, Michaela Weigl, the president of MPS Austria, discusses the society’s work to support people living with mucopolysaccharidoses and to raise...
Breakthrough could help develop therapies for childhood brain disorder
A new breakthrough could pave the way for therapies to treat rare childhood brain disorders by helping us to understand how they develop.
Findings from...
Rare diseases: better data framework needed to improve diagnostic rates
A new study has found that a better data framework is needed to improve diagnostic rates of rare diseases.
A new study has found that...
Mitchell disease: solving the medical mystery
Scientists have uncovered a genetic mutation that links to the rare Mitchell disease.
A team of researchers led by Dr Hugo Bellen at Baylor College...
