Genetic therapies in the spotlight for Rare Disease Day

To mark Rare Disease Day today, scientists from the Genetics Research Centre at St George’s have set up a stand at the university to raise awareness of these conditions and explain more about their work in this area.

Rare diseases are those defined as affecting fewer than 1 in 2000 of the population. One rare disease may affect only a handful of patients, but lack of scientific knowledge about these diseases may often delay diagnosis and access to treatment and care – and in fact, often no effective treatments will have been developed.

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Researchers discover new genes associated with heart function

A new study from an international research team, led by Dr Yalda Jamshidi at St George’s, University of London, has identified new genes associated with heart function and development. 

An electrocardiogram (ECG), which records a heart's rhythm and electrical activity, can be used to identify life-threatening heart problems which often have a strong genetic basis. The team compared ECGs and the genetic makeup of almost 200,000 individuals to gain insight into the genetics that underlie heart rhythm. This was done using large-scale genetic association studies focusing on protein-coding parts of the genome. They chose to focus on rare variants that are often missed in large scale population studies, for follow-up.


Genetic study could lead to new treatments for sufferers of pulmonary arterial hypertension

Research carried out by a consortium including St George’s, University of London has identified new genes for pulmonary arterial hypertension, which provides renewed hope for people affected with this incurable condition.

12 April 2018

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New research identifies potential genetic link in Sudden Infant Death Syndrome

Sudden infant death syndrome (SIDS) is the unexpected death, usually during sleep, of a seemingly healthy baby before the age of one year. Around 300 infants die from SIDS every year in the UK. Despite decades of research it remains unclear exactly why this happens; however a temporary inability of the baby to breathe efficiently is thought to be an important factor.

29 March 2018

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Most sudden infant death cases are not caused by genetic heart mutations, say experts

Investigators looked at hundreds of cases of sudden infant death syndrome (SIDS) - unexplained deaths of an infant less than one year old in the UK and United States and found that mutations that cause heart disease, account for less than five percent of the deaths.

13 March 2018

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Spotlight on Science lecture on 25 April: Unlocking the secrets of your DNA

Would you want to know which illnesses could affect you? Join us for a free lecture and hear from a patient who chose to find out.

Scientists can now ‘read’ our genes and increasingly can foresee the illnesses that could affect us.


Genetic study identifies a new form of congenital muscular dystrophy

A new form of congenital muscular dystrophy has been discovered which is caused by mutations in a previously un-linked gene.

9 February 2017


Worldwide study reveals new genes for heart function

The way the heart muscle functions appears to be much more complex than previously assumed.

30 September 2016