Rare Diseases Related News
Supporting patients and families with Mucopolysaccharidosis
Founded in 1985, MPS Austria supports children with Mucopolysaccharidosis and other similar Lysosomal diseases, and their families, by helping to increase quality of life.
MPS...
Study shows metyrapone effective for treating rare Cushing’s Syndrome
The first ever prospective study to test the safety and efficacy of metyrapone in patients with Cushing’s Syndrome in a real-life setting has shown...
Skeletal Rare Diseases Academy launched by IOF
A new International Osteoporosis Foundation (IOF) initiative has been launched to support communication, educational programmes, and research advances in rare disorders of the bone.
The...
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...
