Rare Diseases Related News
Potential drug target for bone marrow cancer
New research finds patients with a rare type of bone marrow cancer have distinctive epigenetic changes that can activate harmful genes and cause cancer...
First-ever Creutzfeldt-Jakob disease treatment shows encouraging results
Early study results have highlighted the promising performance of the world’s first treatment for Creutzfeldt-Jakob disease, potentially a landmark step toward treating the deadly...
Working towards a new framework for rare diseases
Health Europa Quarterly speaks with EURORDIS Public Health Policy Director Anna Kole about the current landscape of rare diseases in Europe.
The European Organisation for...
Pompe Support Network: living with Pompe disease
HEQ speaks with Allan Muir, Chair of the Board of Trustees at the UK’s Pompe Support Network, about the burden and treatment of Pompe...
Discussing glycogen storage disease and patient support
AGSD-UK Specialist Care Advisor Jane Lewthwaite speaks to HEQ about the importance of community and advocacy for patients living with glycogen storage disease.
The Association...
Hope for rare disease patients: an approach to funding gene therapy
Roger Johansson, Vice President and General Manager – Northern Europe with the global biopharmaceutical company PTC Therapeutics, discusses the need to establish an environment...
AOP Orphan: a European pioneer in the field of rare and complex diseases
AOP Orphan optimises the patient experience with integrated therapy solutions combining drugs, medical devices, and empathic care.
Austria-based company AOP Orphan Pharmaceuticals AG has been...
Positive opinion for hereditary angioedema medicine for use in patients over 12
The Committee for Medicinal Products for Human Use (CHMP) has recommended the medicine berotralstat for the routine prophylaxis of hereditary angioedema in patients aged...
Innovation in rare diseases: improving patient care for blood cancer
AOP Orphan Pharmaceuticals AG is an international pharmaceutical company focusing on rare and special diseases. The company has developed an innovative pen for the...
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...
