Rare Diseases Related News
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...
New findings on melorheostosis could pave the way for future treatments
Researchers have put forward new insights that may inform the search for new treatments for melorheostosis.
Researchers at the National Institutes of Health have discovered...
The impact of late liver disease diagnosis on children is cause for concern
On Big Yellow Friday, we need to discuss the need for improvements to public awareness and earlier diagnoses of childhood liver disease.
Patients and clinicians...
Children are more likely to have other allergies if they have FPIES
Researchers from CHOP have discovered that children with FPIES have a significantly higher chance of being diagnosed with other allergies
The researchers from the Children's...
The ‘Jekyll and Hyde’ of immune cells
Scientists from Trinity College, Dublin have identified a rare, new cell in the immune system with 'Jekyll and Hyde' properties.
These cells play a key...
Learn about Rare Disease Day with MPS Austria
Did you know that one in 20 people will live with a rare disease at some point in their life? 29 February 2020 marked...
New method found for measuring the treatment of rare liver disease in children
The study by UCLA researchers examines the role of the small molecule in children with a rare liver disease
In a new study, the UCLA...
Single cell war-ganism: new compound could battle brain-eating amoebae
A new report reveals that researchers have found a new compound that shows promise in the laboratory as a treatment to brain-eating amoebae
Brain-eating amoebae...
Living with mucopolysaccharidoses: support, awareness and research
Mucopolysaccharidoses (MPS) is a group of rare, inherited, incurable metabolic diseases caused by disorders in the metabolism, in this eBook the Austrian MPS Society...
Developing new treatments for Barth syndrome
Researchers at Wayne State University are developing new treatments for Barth syndrome (BTHS), a rare genetic disorder
Barth syndrome (BTHS) is a rare and life-threatening,...
United European Gastroenterology: the burden of gastric diseases
In honour of World Stomach Day, Professor Tamara Matysiak-Budnik of United European Gastroenterology examines recent developments in gastric disease diagnosis and management.
On October 2...
Rogue cells responsible for autoimmune diseases, study suggests
For the first time, a team led by researchers at the Garvan Institute of Medical Research have pinpointed individual cells that cause autoimmune disease...
Are you suffering from chest pain? Yoga might be the answer
When the allopathic approach towards certain conditions ceases to make you feel better, the ancient Indian practice of yoga may help to treat costochondritis
Guest...
WHO: “Cancer should not be a death sentence for anyone, anywhere”
The World Health Organization (WHO) has outlined steps that could prevent seven million cancer-related deaths across the world
The guidelines spell out the need to...
NUI Galway launch €7.45m research project into osteoarthritis
The EU Horizon 2020 project will research the robotic production of groundbreaking regenerative stem cell therapies
The €7.45m AutoCRAT project will enable researchers to develop...
Space, neurogenetics and nervous system research
Have you ever wondered about how space alters the mechanics of human muscles? Health Europa Quarterly spoke with Bertrand Fontaine, Director of the Institute...
A milestone in the treatment of men’s disease with regenerative medicine
MukoCell, a tissue-engineered mucosa, is about to confirm the therapeutic efficacy in the plastic reconstruction of the urethra in a prospective randomised clinical trial
Tissue...
Ulcerative Colitis: best treatment practices revealed
New AGA guidelines, published in Gastroenterology, suggest the best treatment practices for the optimum care of patients with moderate to severe UC
Ulcerative colitis (UC)...
The dawn of gene therapy for rare diseases
Andrew Obenshain, Chief of Wings at biotechnology firm bluebird bio, tells HEQ about the future of gene therapies in the treatment of rare diseases
Up...