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Identification of a new gene causing a severe, rare human disease

International collaborative effort of fifteen clinical and/or research centres from the UK, Germany, Ireland, France, Belgium, Austria Italy, Israel and Japan led by Dr. Michal Minczuk from the MRC MBU in Cambridge and Dr. Holger Prokisch from Institute of Human Genetics, Helmholtz Centre in Munich resulted in the discovery that mutations in the GTPBP3 gene cause defects in protein synthesis in mitochondria and are associated with a devastating disease. The patients affected by this disease have deficiency in energy production and suffer from heart and neurological disease.

Mike Murphy awarded Government funding for drug development

Life-saving measures for patients have moved a step closer following the announcement of investments totalling over £30 million in emerging new treatments and technologies.

Prime Minister David Cameron confirmed today (21 November 2014) that Innovate UK and the Medical Research Council (MRC) would deliver the new money through rounds five and six of the BioMedical Catalyst (BMC), part of the Government’s Life Sciences Strategy.

Open Day 2014

On 25 June 2014 the MRC Mitochondrial Biology Unit (MBU) opened its doors again to the public.

Visitors included local residents and students from local sixth form colleges. MBU scientists gave a series of talks and demonstrations on mitochondria and how mitochondrial dysfunction leads to illness and ageing.

Visitors also attended a “meet the scientists” session, where members further explained their work through the use of posters, movies and video games.

Cambridge Science Festival 2014

On 23 March 2014 at the Cambridge Science Festival, scientists from the MRC Mitochondrial Biology Unit (MBU) used posters, movies and computer games, created by Henry Harling, to demonstrate how mitochondrial dysfunction leads to illness and ageing.

Visitors were given an explanation of heteroplasmy - when an individual has mutant as well as normal mitochondrial DNA - which was demonstrated by the Heteroplasmy video game.

Our Patron: Her Royal Highness The Princess Royal

In June 2013, Her Royal Highness The Princess Royal agreed to extend her Patronage of the MRC Mitochondrial Biology Unit for a further three years.

This is wonderful news for the Unit as it further progresses towards its scientific aims. The Princess Royal's association with the Unit began in 1990 when Her Royal Highness became Patron of the Dunn Nutrition Unit and we are delighted that The Princess Royal has taken a keen interest in our work during several stages of the Unit's evolvement.

Massimo Zeviani awarded the Grand Prix of the NRJ Foundation in Paris

On Wednesday, 5 June 2013, Professor Massimo Zeviani will be presented with the 2013 Grand Prix of the NRJ Foundation, on "Genetics of degenerative diseases", under the cupola of the Institute of France. The award is made to support Professor Zeviani’s work on the genetics of mitochondrial diseases. "The Prize of the NRJ Foundation will allow me to continue my research which aims at understanding why mitochondrial deficiency leads to brain damage and how to correct or even halt the progression of disease in patients." - Massimo Zeviani

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