Node Highlights

Find out the latest happenings within our nodes!

Node News Bulletin

  • REOLUT Node Co-Investigator, Dr Melanie Chan (Imperial) has set up a Rare Disease group (as of February 2024) within the UK Kidney Association National Registry of Rare Kidney Diseases (RaDaR) to recruit children and young people with structural malformations of the urinary tract including those with rare, early onset lower urinary tract disorders. The group is co-led by Dr Jo Clothier, Consultant Paediatric Nephrologist at Evelina Children’s Hospital and Dr Lucy Plumb, Clinical Lecturer and paediatric nephrologist at Bristol University.

 

 

  • EpiGenRare Node Co-lead Siddarth Banka and the Manchester Rare Conditions Centre (MRCC) team hosted the Kabuki UK Information day. The event, which was attended by a sold-out audience including patient advocacy groups from the Netherlands and Spain, underscored the global impact and recognition of the UK’s leadership in Kabuki syndrome research and care.

Node Grant Awards

  • EpiGenrare Node lead Albert Basson was awarded a research grant from the CHARGE syndrome foundation. In collaboration with the laboratories of Stefano Espinoza (University of Eastern Piedmont) and Marta Biagioli (University pf Trento) in Italy, his group will evaluate the therapeutic potential of a new RNA-based technology in the context of the rare chromatin disorder, CHARGE syndrome.

 

  • REOLUT Node Co-leads Node Co-Is, Dr Neil Roberts (UoM) and Prof Adrian Woolf (UoM) recently received funding for 2024-2027 MRC-NIHR Project Grant (FeC £1,250,662; MRC contribution £1,000,529). Treating the autonomic neural pathobiology of a devastating early onset genetic urinary bladder disease (APP14742). Lead NA Roberts with co-leads AS Woolf and RM Williams.

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