Rare Diseases Related News
Reference networks and research for rare diseases
Health Europa looks at the diagnosis and treatment of rare diseases and related research efforts. Focusing on the European Reference Networks and the New...
Hypotrichosis simplex: Researchers uncover new hair loss genes
Hypotrichosis simplex leads to gradual hair loss in childhood and researchers have deciphered new hair loss genes responsible for this rare form of hair...
Mucopolysaccharide storage diseases and puberty and adolescence
The Medical University of Vienna’s Susanne Gerit Kircher reflects on the medical progress that has allowed people affected by mucopolysaccharide storage diseases to start...
The Fool’s Tower: Europe’s oldest accommodation for mental patients
Health Europa explores with those involved in managing and expanding the then-hospital for mental patients, Vienna’s Narrenturm (Fool’s Tower).
In September, Health Europa travelled to...
The Swiss perspective on mucopolysaccharide disease
Dr Fredi Wiesbauer, vice president of the Swiss Mucopolysaccharide disease (MPS) Society met with Health Europa and explored the Swiss experience of hosting such...
What do you know about Zellweger spectrum disorders?
Zellweger UK explains how the charity is working to support research into Zellweger spectrum disorders.
The Zellweger Spectrum Disorders (ZSD) comprise a group of genetic...
Diagnostic tools and therapies to be developed by new Horizon 2020 projects
New Horizon 2020 projects set to collaboratively research and develop innovative diagnostic tools and therapies for rare diseases.
Almost a dozen new collaborative research and...
Orion Corporation to provide better personalised treatments through ecosystem development
Orion Corporation has come together with selected university research groups and companies to develop better personalised treatments using a New Modalities Ecosystem.
Funded by Business...
Could the puzzle around fatal blood diseases be uncovered?
Scientists are closer to uncovering the mystery surrounding a group of fatal blood diseases known as myelodysplastic syndromes (MDS).
According to Cincinnati Children's Hospital Medical Centre,...
The Austrian MPS Society’s Therapy Week – more than just therapy
In July, Health Europa saw first-hand how the Austrian MPS Society’s Therapy Week brings patients and their families together for more than just a...
How is MPS Austria improving understanding of mucopolysaccharidoses?
Professor Dr Dr Susanne Gerit Kircher discusses her work alongside the Austrian MPS Society towards a better understanding of mucopolysaccharidoses.
Speaking to Health Europa during...
Make Patients Smile: the MPS Austria Therapy Week mission
Continuing its coverage of the MPS Austria Therapy Week, Health Europa speaks to childcare organiser Anna Prähofer about how the event has evolved since...
Connecting patients with a rare digestive disorder to research and cures
Life with a rare digestive disorder often means suffering with disabling symptoms for years before receiving the correct diagnosis and appropriate care. Patient advocacy...
The Matchmaker Exchange connects researchers and clinicians to identify novel Mendelian disease genes
The Matchmaker Exchange (MME) was initiated in October 2013 as a community-organized effort to connect clinicians and researchers with rare cases. Matchmakers had evolved...
The MPS Society: supporting those with mucopolysaccharidoses
Being diagnosed and living with mucopolysaccharidoses is life changing. The Austrian MPS Society, MPS Austria, is an organisation which supports families and their individuals...
Key areas of research in the diagnosis and treatment of MPS diseases
Professor Dr François Eyskens of PCMA vzw discusses early diagnosis of MPS diseases by creating awareness and using a tandem mass spectrometry screening method.
MPS...
Diagnosing mucopolysaccharidoses diseases in young people
This booklet was written by Professor Dr Francois Eyskens of the PCMA vzw, the metabolic laboratory, and the Center of Inherited Metabolic Diseases at...
Imperial highlights four unheard of rare diseases for Rare Disease Day
Researchers at Imperial College London, UK, gathered for Rare Disease Day 2018 to bring attention to four uncommon rare diseases and help highlight the...
Northeast’s healthcare pioneers showcased on Rare Disease Day
This Rare Disease Day, the Academic Health Science Network is shining a spotlight on the UK Northeast’s healthcare pioneers chosen to lead three major...
Repurposing for rare diseases
Healx Ltd aims to transform the lives of patients with rare diseases by intelligently matching drug treatments
There are over 8,000 rare diseases affecting an...
