Rare Diseases Related News
UK forms new strategy to improve rare disease diagnosis and treatment
The UK has created a new framework to accelerate the diagnosis of rare diseases, as well as improving treatment and raising awareness.
More than 3.5...
Calls for urgent reforms to improve care for rare disease patients
Organisations are calling on the UK Government and the NHS to implement urgent reforms in order to improve care for patients in the UK...
No deal Brexit could be detrimental for UK rare disease patients
Experts have issued a warning that a no deal Brexit could have a hugely detrimental impact on patients in the UK living with a...
Austrian MPS Society’s Therapy Week
Mucopolysaccharidosis are a group of rare, inherited, and incurable diseases, and MPS Society Austria aims to help people and families living with these diseases...
Non-hereditary mutation acts as natural gene therapy for GATA2 deficiency
Scientists have identified a non-inherited mutation in blood cells from a patient with GATA2 deficiency that may have prevented bone marrow failure and other...
Early access to medicine for hereditary angioedema patients
The UK’s Medicines and Healthcare Products Regulatory Agency (MHRA) has granted a positive scientific opinion to the medicine berotralstat for hereditary angioedema patients through...
Is CRISPR gene therapy for rare Angelman Syndrome on the horizon?
For the first time, scientists have shown how gene editing techniques could be used as therapy for the rare neurodevelopmental disorder – Angelman syndrome.
Babies...
New study links 28 genes to rare developmental disorders
A new study has linked 28 genes to rare developmental disorders and has estimated another 1,000 genes linked to these disorders are yet to...
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...
