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Find out the latest happenings within our nodes!

Node News Bulletin

  • CILIAREN node had their clinical launch at UK Kidney Week (Edinburgh, 11-13/06/2024), the annual UK Kidney Association meeting renowned for its up-to-date research, state-of-the-art lectures, and diverse symposia, presentations and workshops across all kidney-related professionals and patient advocacy groups. 

    In a special session ‘Biology and big data to transform lives in rare kidney diseases’ chaired by John Sayer, CILIAREN was brought on the main stage. Their SAB member Danny Gale wowed the audience with the massive strides being made in the UK rare renal landscapes with ‘How the UK National Registry of Rare Kidney Diseases (RaDaR) can inform clinical care via interventional studies. Next up, Pleasantine Mill provided an introduction into how tiny cilia have such massive effects on human development and health, and why kidneys sit so prominently as effected in the ciliopathies in her talk ‘The human genetics of cilia disorders and the ambitions of CILIAREN’. We heard from Sarah Bingham, mother of three children all diagnosed with an ultrarare renal ciliopathy and their diagnostic odyssey. The session was closed with a moving tribute to Tess Harris, in full technical glory, from Alan Greenberg, trustee for PKD Charity UK. 

    On the following morning, John Sayer presented the Chandos Lecture to a full house about ‘Unveiling urinary phenotypes: strategies for kidney disease diagnosis and treatments’.

  • CILIAREN node represented at CILIA24 Dublin September 2024. Their expert patient Audrey presented the CILIAREN vision at a dedicated networking lunch event, at the patient conference within the Conference. Hosted by CILIAREN, the  working lunch to was used to discuss opportunities to innovate therapies and improve care for all renal ciliopathies. In the main conference, their expert patient Sarah Bingham gave a keynote patient perspective to the whole scientific conference and latest research from their respective labs were shared through oral and poster presentations. 

ELSI node

  • Ramona Moldovan  hosted a workshop titled “The science, guidance and experience of informed consent” and Angus Clarke  presented a poster titled ‘Reflexive prediction in genetic counselling’ at this year’s ESHG event in Berlin, Germany (1-4th June 2024).
  • Anneke Lucassen hosted an international GenEthics workshop in Berlin, Germany (1-4th June 2024).
  • Angus Clarke presented at the COMET conference, Brescia, Italy (26th – 28th June 2024). Title: “Caring for patients with rare diseases through communicative practices (counselling for predictive genetic testing for HD)”. URL: https://comet2024.unibs.it
  • Ramona Moldovan presented at the WPA conference, Vienna, Austria (29th September 2024). Title: “Patient Outcomes in (pharmaco)genetic research”. The focus of the session was to discuss the potential role of people with lived experience in shaping future psychiatric care and research. URL: https://2023.wcp-congress.com/
  • Ramona Moldovan gave a presentation titled “Psychological support for Huntington’s Disease – a Cognitive Behavioural Therapy informed intervention” at the European Huntington’s Disease Network on 13th September 2024.
  • Ramona Moldovan gave a presentation titled “Extending the conversation about what it means to be rare” at the 2nd Manchester Rare Conditions Centre Annual Celebration Event, 17th July 2024. HF and GP presented an overview of the ELSI Node at the same event.
  • Anneke Lucassen co-chaired the Genethics Forum, London, UK (27th September 2023). Plenary Speaker: Dr Harriet Etheredge, “Ethics at scale-Exploring practival challenges in the Genomics England’s Newborn Genomes Programme”. The GenEthics Forum is a workshop organised for health professionals to discuss and explore difficult ethical and/or legal issues encountered in genetic medicine. Other node members attended the workshop.
    URL: http://genethicsforum.ning.com/.
  • Angus Clarke presented at a Lecture at a workshop on methods to study decision making by patients in the context of predictive or prenatal testing for rare genetic diseases, Porto, Portugal (15th March 2024) – URL https://decide.i3s.up.pt/about/
  • Tara Clancy chaired the Genethics Forum, Manchester, UK (1st October 2024). Plenary Speaker: Chris Beford-Gay (Founder Member and Trustee of FOP (Fibrodysplasia Ossificans Progressiva) Friends). Ramona Moldovan presented the aims and objectives of the ELSI Node.
  • Anneke Lucassen and Tara Clancy hosted and chaired a workshop titled “Genetics and insurance: Complexities in the genomic era” on 15th May 2024. This event was jointly organised by the Centre for Personalised Medicine at Oxford and the British Society for Genetic Medicine.
  • Anneke Lucassen, Susie Weller & Rachel Horton wrote a Frontiers Article titled “Genomic Data: Building Blocks for Life or Abstract Art?”. Published on 8th February 2024. URL: https://kids.frontiersin.org/articles/10.3389/frym.2024.1249534
  • Anneke Lucassen, Susie Weller & Rachel Horton contributed to the Centre for personalised medicine podcasts, where researchers discuss their work on different ethical and societal issues within personalised medicine. URL: https://cpm.ox.ac.uk/listen-to-our-podcasts/
  • UPNAT and Node members at UCL GOS ICH are working with MRC Nucleic Acid Therapeutic Accelerator (NATA) on the preclinical development of splice-switching ASOs for childhood epilepsies caused by mutations in the WDR45 gene. This is a pilot programme to explore NATA’s capability in NAT preclinical development and systemic toxicology studies for RD. 

 

  • UPNAT and Node members at GOSH have also initiated the collaboration with EveryOne Medicine on n=1 individualized ASO therapy in paediatric neurology, which has also been taken as a pilot study with Rare Therapies Launch Pad (RTLP) to explore the new regulatory pathway in the UK on ultrarare or n=1 ASO treatment.
  • Professor Morris discussed the ExPRESS study in a podcast made by the Michael J Fox Foundation, which reaches an international audience of Parkinson’s disease patients and carers.

 

  • At the Neuro2023 international conference on PSP and CBD, the ExPRESS study was further discussed by Professor Morris and later Riona Fumi in a panel discussion surrounding the delay to diagnosis in conditions such as PSP and CBS. The discussions at the conference featured in the ‘PSPA Matters’ magazine, reaching a range of patients and carers in a lay format. 

 

  • The ExPRESS node has supported a key publication which was recently published in Movement Disorders, as below. Using previously collected cerebrospinal fluid samples, we have evaluated the potential usefulness of a specific marker for alpha-synuclein in patients with PSP and CBS. This shows that there is a significant false positive diagnosis rate likely reflecting co-pathology of tau and alpha-synuclein. This research also showed that a cases with such co-pathology were older and had a shorter disease duration compared with thosewithout alpha-synuclein co-pathology.
    • Vaughan DP, Fumi R, Theilmann Jensen M, Hodgson M, Georgiades T, Wu L, Lux D, Obrocki R, Lamoureux J, Ansorge O, Allinson KSJ, Warner TT, Jaunmuktane Z, Misbahuddin A, Leigh PN, Ghosh BCP, Bhatia KP, Church A, Kobylecki C, Hu
      MTM, Rowe JB, Blauwendraat C, Morris HR, Jabbari E. Evaluation of Cerebrospinal Fluid α-Synuclein Seed Amplification Assay in Progressive Supranuclear Palsy and Corticobasal Syndrome. Mov Disord. 2024 Sep 20. doi: 10.1002/mds.30019. Epub ahead of print. PMID: 39301998.
  • The Rare @ Manchester event 2024 was held on Wednesday 17th July 2024 at CityLabs 1.0. Over 100 people attended this event and engaged with a packed schedule of talks from key partners of the Manchester Rare Conditions Centre (MRCC) to celebrate the second anniversary of its inception. A stunning variety of posters showcased the new and exciting rare conditions work being done in Manchester and further afield; prizes were awarded for scientific content and accessibility. Presentations from Kath Bainbridge, Emma Baple, Tim Barrett and Lucy McKay highlighted the amazing clinical and academic networks that are being established in the rare conditions space throughout the UK and compelling talks from Jessica McAndrew and Romona Moldovan championed the importance of patient voices in these ever-evolving initiatives. The day finished with an informative advisory panel discussion where clinicians, patient advocates, academics and healthcare professionals got together with the MRCC team to celebrate their successes so far and plan how the Centre could continue to enhance the diagnosis, treatment, and support for patients with rare conditions.
  • Between February and July 2024 members of the CAPTIVATE node of RDRUK published a trilogy of papers introducing the n-of-1 design. The n-of-1 design is an efficient way to compare treatments for rare diseases on a within-patient basis where the nature of the disease and other practical considerations make this possible.
    • Chatters, R., Hawksworth, O., Julious, S. et al. The development of a set of key points to aid clinicians and researchers in designing and conducting n-of-1 trials. Trials 25, 473 (2024). https://doi.org/10.1186/s13063-024-08261-z
    • Hawksworth, O., Chatters, R., Julious, S. et al. A methodological review of randomised n-of-1 trials. Trials 25, 263 (2024). https://doi.org/10.1186/s13063-024-08100-1
    • Senn, S. The analysis of continuous data from n-of-1 trials using paired cycles: a simple tutorial. Trials 25, 128 (2024). https://doi.org/10.1186/s13063-024-07964-7.
  • Prof Joe Bateman and other members from the mTOR Pathway Diseases Node spoke at the Clinical Genetics SpR (Specialist Registrar) Summer School on TSC and MTORopathies at St. George’s hospital on 5th June 2024. 
  • 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 6th 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.
Members of the central ExPRESS study team are Marte Theilmann Jensen (left) and Riona Fumi (middle).
  • The ExPRESS Node participated in the PSP Association Research Information Day (2024) on the 23rd 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.

 

 

  • 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

  • ELSI node received the Brocher Award (6000 CHF) to host a Brocher Foundation workshop in Switzerland (21st – 23rd January 2025). Title: “Rare Diseases, Genomics and Justice: a workshop to set an agenda”.

 

  • UPNAT node received the following grants 
    • EU Commission/ MRC. Marie Curie Doctor Training Programme – EFFeCT. PI (UK). £329,000. 2025-2028. 
    • Rosetree Trust. Preclinical development of ASO therapy for SPTLC1-related sensory neuropathy. PI. £210,000. 2025-2028.
    • LifeArc Centre for Rare Respiratory Diseases. co-applicant. UCL PI: Mitchison. £1.5m out of £10m to UCL investigators. 2024-2029.  
    • NIHR GOSH BRC. Developing RNA therapy for lysosomal storage disorders- Clinical PhD studentship. PI (Primary supervisor). £298,983. 2024-2027.
    • UCL Tech Fund. TargetRide- developing cell-specific ASO delivery. PI. £250,000. 2024-2026.
    • LifeArc/MDUK. Preclinical development of peptide-conjugated antisense oligonucleotide therapy. PI. £382,547. 2024-2027. 

 

  • 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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