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Genome sequencing: novel genetic cause of rare diseases discovered

Genome sequencing: novel genetic cause of rare diseases discovered

A new study has discovered novel genetic causes of rare diseases which researchers believe could lead to the improvement of diagnosis and patient care. A...
Experimental cancer drug is potential treatment for rare Rett syndrome

Experimental cancer drug is potential treatment for rare Rett syndrome

Scientists have investigated the use of an experimental cancer drug for the treatment of the rare Rett syndrome, finding that it extended life in...
Doctors examine best treatment options for rare type of stroke

Doctors examine best treatment options for rare type of stroke

A new study has set out to assess the best option for the treatment of a rare type of stroke known as a nontraumatic...
‘Immune cleanup’ could offer treatment for rare disorder

‘Immune cleanup’ could offer treatment for rare disorder

Researchers have discovered how stimulating an ‘immune cleanup’ could offer a potential treatment for people suffering from a rare disorder named leukocyte adhesion deficiency...
Ménière's disease: how x-ray technology is teaching us about the disease

Ménière’s disease: how x-ray technology is teaching us about the disease

Ménière's disease is a condition that affects the inner ear, causing problems such as tinnitus, hearing loss, a feeling of pressure in the ear,...
Health Europa Quarterly Issue 13

Health Europa Quarterly Issue 13

Welcome to Health Europa Quarterly Issue 13, which focuses – inevitably – on issues surrounding the Covid-19 pandemic, from the importance of hand hygiene...
Mutation discovery could lead to treatment for rare neurological disorder

Mutation discovery could lead to treatment for rare neurological disorder

A team of researchers have discovered a mutation in a protein that can cause a rare neurological disorder – leading to the identification of...
A spotlight on MPS Austria

A spotlight on MPS Austria

Speaking to Health Europa, Michaela Weigl, the president of MPS Austria, discusses the society’s work to support people living with mucopolysaccharidoses and to raise...
Breakthrough could help develop therapies for childhood brain disorder

Breakthrough could help develop therapies for childhood brain disorder

A new breakthrough could pave the way for therapies to treat rare childhood brain disorders by helping us to understand how they develop. Findings from...
Rare diseases: better data framework needed to improve diagnostic rates

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

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

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...

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