Rare cases of diabetes have been described in infants which can include other symptoms such as neurodevelopmental delay, and are monogenic in origin. A small but growing list of mutations identified...
A new mechanism for substrate recruitment by receptor protein tyrosine phosphatases
The labs of Dr Janet Deane at CIMR and Dr Hayley Sharpe at the Babraham Institute work collaboratively to understand the structures and substrate specificities of certain receptor protein tyrosine...
The molecular mechanism of a premature ageing disorder
Nestor–Guillermo progeria syndrome (NGPS) is one of several ultra-rare genetic conditions caused by mutations in genes associated with nuclear envelope function. Dr Delphine Larrieu’s group...
One important feature of certain types of neurodegenerative disease is the intracellular accumulation of certain misfolded, aggregated proteins which are toxic to nerve cells. Preventing the buildup...
New CIMR research led by Dr Joseph Chambers, PhD student Nikita Zubkov and Prof. Stefan Marciniak has revealed a new mechanism for certain types of rare genetic disease. Their new publication in...
The role of eIF6 in ribosome assembly and recycling
Protein synthesis is a cyclical process in which ribosome components assemble to translate mRNA into protein, disassemble upon completion and are recycled back into further rounds of assembly. This...
Congratulations to Dr Miriam Lisci, a former CIMR PhD Student who has been awarded the 2021-2022 Milo Keynes Prize for Outstanding Dissertation by the Cambridge School of Clinical Medicine Degree...
We were very pleased to take part in RAREfest22, a two-day science, technology, community and arts festival organised by the Cambridge Rare Disease Network , and centred on people living with rare...
Professor David Rubinsztein FRS has been highlighted by Clarivate as a ‘Highly Cited Researcher’ in 2022. This is due to his highly-cited papers which rank in the top 1% by citations for field and...
