Genetics
Twins help progress and diagnosis of rare MyastheniaTwins help progress and diagnosis of rare Myasthenia

Myasthenia Gravis is a rare autoimmune disease which leads to a fatigability of various muscles. Scientists know about the progress and symptoms, but not the actual cause of this disease. Now fourteen pairs of identical twins joined the EU funded medical project “Fight-MG”, to help find the cause and for a better treatment of the patients.

July 2014
Sonia Aknin-Berrih: How rare models suggest new treatment strategiesSonia Aknin-Berrih: How rare models suggest new treatment strategies
Elucidating the many possible causes of a rare auto-immune disease called Myasthenia Gravis could help point towards possible treatment for such disease 
July 2014
Network of experts join forces to fight rare diseaseNetwork of experts join forces to fight rare disease

Support from a network of leading researchers across Europe specialised in a rare auto-immune disease with unmet medical needs could help test several novel treatments

July 2014
Gene correction for a rare diseaseGene correction for a rare disease

Scientists within the European research project AIPgene have developed a new gene therapy for Acute Intermittent Porphyria (AIP). 

July 2014
Renewed hope for gene therapy in rare diseaseRenewed hope for gene therapy in rare disease

New virus serotypes are safely used as ‘DNA transporters’ to successfully deliver genes to deficient cells. 

July 2014
Gloria González-Aseguinolaza - Positive signs for curative treatment against PorphyriaGloria González-Aseguinolaza - Positive signs for curative treatment against Porphyria

An early stage clinical trial on patients with the rare metabolic disorder, Pophyria, has shown no side effects—further trials, if successful, could lead to the first gene therapy of its kind.

July 2014
Secrets of youth, based on preventionSecrets of youth, based on prevention

Metabolites found in our blood are linked to ageing and can signpost the risk of developing age-related diseases. This may help avoid such risks and reduce the rate at which we age biologically.

June 2014
Ana Valdes – Twins studies to identify the molecular cause of ageingAna Valdes – Twins studies to identify the molecular cause of ageing

Combining research on twins with new technology shows both nature and nurture play a role in biological ageing.

June 2014
Picking the right virus candidate for gene therapyPicking the right virus candidate for gene therapy

A promising new approach to gene therapy for neurodegenerative diseases makes use of an unexpected virus as the agent of delivery. 

June 2014
Eric Kremer – Delivering therapy beyond the blood-brain barrierEric Kremer – Delivering therapy beyond the blood-brain barrier

First tests of new approach based on gene therapy could improve treatments of diseases affecting the brain 

June 2014
Physical work, not the main cause of intervertebral disc degenerationPhysical work, not the main cause of intervertebral disc degeneration

Intervertebral disc degeneration can result in back pain. Now a team of scientists is debunking the myth that excessive physical work is the main culprit, and is looking at other causes. 

June 2014
Jill Urban – Genetic factors play a role in lower back painJill Urban – Genetic factors play a role in lower back pain

Lower back pain is poorly understood. But genetic factors rather than spinal disc degeneration may provide a more robust understanding of its causes.

June 2014
Proteins: The Key for all Diseases?Proteins: The Key for all Diseases?

The human DNA has been decoded already in the Human Genome Project. Now scientists from Martinsried near Munich are taking the next step to decode all proteins of a human being.

May 2014
Mapping proteins in space and time within cellsMapping proteins in space and time within cells

How many types of proteins are there in a cell? How many of each type are there and where are they at any given time? New methods may shed light on these fundamental biological questions.

May 2014
Ruedi Aebersold – Unravelling the structure and dynamics of large protein complexesRuedi Aebersold – Unravelling the structure and dynamics of large protein complexes

New insights into how large protein complexes function differently in healthy and sick cells has now been granted thanks to new technologies.

May 2014
Peering down protein-DNA interactions to better understand how genes workPeering down protein-DNA interactions to better understand how genes work

Protein-DNA binding is fundamental to gene regulation. Now, new methods based on laser pulses allow fast interactions between proteins and DNA to be followed.

May 2014
Common links between neurodegenerative diseases identifiedCommon links between neurodegenerative diseases identified

The pattern of brain alterations may be similar in several different neurodegenerative diseases, which opens the door to alternative therapeutic strategies to tackle these diseases 

April 2014
Monica Di Luca – Parkinson’s treatment revisited to avoid adverse effectsMonica Di Luca – Parkinson’s treatment revisited to avoid adverse effects

Parkinson’s disease modifies a crucial circuit of the central nervous system in a specific way. This could open up an alternative therapeutic approach that avoids side effects of current therapies.

April 2014
New therapy against rare gene defectsNew therapy against rare gene defects

On 15th April is the 1st International Pompe Disease Day, a campaign to raise awareness of this rare but severe gene defect. Pompe Disease is only one of more than 40 metabolic disorders that mainly affect children under the age of 10, often with devastating consequences. Now scientists of the European research project EUCLYD setting up new therapeutic methods to tackle these gene defects.

April 2014
Two approaches to treat Lysosomal Storage DiseasesTwo approaches to treat Lysosomal Storage Diseases

Enzyme therapy proves effective in treating LSDs, whilst gene therapy is an upcoming contender.

April 2014
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