Node Highlights

Find out the latest happenings within our nodes!

Node News Bulletin

The ExPRESS Node participated in a patient engagement event at the National Hospital of Neurology and Neurosurgery, as part of ‘Celebrating Research Week’ on the 6^th June. They approached patients walking past their stall in the Hospital, to ask whether they would like to be added to the Queen Square Movement Disorders registry. They received several new registrations, so that when new studies are set up, patients will be contacted should they be eligible to take part. Patients with new presenting symptoms of parkinsonism who have registered to the MDC registry will receive information about the ExPRESS study as soon as the pilot phase has progressed.

The ExPRESS Node participated in the PSP Association Research Information Day (2024) on the 23^rd May, which included a 30 minute talk about the ExPRESS study by Riona Fumi (ExPRESS Study Coordinator and Researcher). This talk was delivered to patients with Progressive Supranuclear Palsy (PSP) and Corticobasal Syndrome (CBS), their carers and families, PSPA volunteers and a range of healthcare professionals. The background, aims and future plans for the ExPRESS study were discussed. Check out the full talk here.

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.

The UPNAT Node was recently featured in StatNews. UPNAT Node Lead – Dr Haiyan Zhou was interviewed in the article ‘U.K. health officials and researchers try to carve a path for more individualized genetic treatments’ which introduced the Node and highlighted the funding received from MRC/NIHR.

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.

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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Email:
enquiries@rd-research.org.uk

Telephone: 01793 416200

Email:
enquiries@rd-research.org.uk

Telephone: 01793 416200