The EpiGenRare Node facilitates research into the epigenomics of rare diseases by collaborating with experts from the Universities of Exeter, Manchester and Cambridge, King’s College London, and Aston University, spanning relevant disciplines, along with partners in industry, and patient support groups. This collaborative effort aims to address several unmet needs and expedite the diagnosis and treatment of epigenetic disorders.
Epigenomics and epigenetics are the studies on how the activity of genes are controlled. This is important because >100 rare epigenetic diseases are known, such as Rett, Kabuki and Angelman syndromes, and collectively they represent a large number of patients with rare diseases. However, epigenetic diseases remain challenging to discover, diagnose, understand and treat.
The three challenge areas the Node aims to tackle are as follows:
1. Generating a resource linking patients’ genomic and epigenomic data.
2. Performing preliminary studies in animal models to test if similar treatment approaches could be used for multiple epigenetic diseases that share clinical features and biological mechanisms.
3. Generating a resource of well-studied human cell models for large scale drug testing in epigenetic diseases.
In addition to the projects above, the Node will continue to work with various patient-family support groups in co-developing patient information resources, organising family education days and working together to develop evidence-based management guidelines for epigenetic disorders.
EpiGenRare Team
Investigators
Albert Basson
University of Exeter
Siddharth Banka
University of Manchester
Deepak Srivastava
King's College London
Sue Kimber
University of Manchester
Eamonn Maher
Aston University
Researchers
Alex Moorhouse
University of Exeter
Sara Cuvertino
University of Manchester
Bryndis Yngvadottir
University of Cambridge
Project Managers
Henry Frost
University of Manchester
Gabrielle Parkinson
University of Manchester
Collaborators
- Dr. Cristina Dias (King’s College London).
- Prof. Deborah Mackay (University of Southampton).
- Dr. Jamie Ellingford (University of Manchester and Genomics England).
- Prof. Jason Lerch (University of Oxford).
- Prof. Andy Sharrocks (University of Manchester).
- Prof. Danielle Whittaker (King’s College London).
- Dr. Sarah Wynn (UNIQUE).
- Dr. Jordi Xaus Pey (ORYZON).
Scientific Advisory Board
In August 2024, we appointed our Scientific Advisory Board (SAB). To ensure that our science is world-leading and publicly relevant, we invited a diverse mix of patient representatives, clinicians, and scientists to inform our research. We will meet with them once a year to guide our efforts in expanding our network, co-developing future projects, and connecting with international initiatives in epigenetic rare diseases.
We are delighted to have the following SAB members:
- Prof. Rosanna Weksberg (University of Toronto).
- Prof. Hans van Bokhoven (Radboud University).
- Prof. Wendy Bickmore (University of Edinburgh).
- Dr. Clara Tang (Kabuki Syndrome Foundation).
- Prof. Jonathan Mill (University of Exeter).
EpiGenRare Network
The EpiGenRare Network is a community of like-minded academics, healthcare professionals and representatives from industry and patient support groups that aims to address the many remaining challenges in understanding, diagnosing and treating epigenetic rare disorders. This Network organises conferences and smaller meetings to collate, generate and disseminate ideas and foster collaboration across public and professional groups.
As of November 2024, this ever-expanding network is ~70 members strong and includes members from the following important groups of people.
- Patient support groups (Angelman UK, Beckwith-Wiedemann syndrome support group, Child Growth Foundation, CHARGE family support group (UK), Foundation for ARID1B Research, Kabuki UK, KleefstraSyndrome.org, Reverse Rett and Rett UK).
- Biotechnology companies (Illumina and Oxford Nanopore).
- Academics & clinicians (Cardiff University, GOSH, Babraham Institute).
If you are interested in joining the EpiGenRare Network, please email EpiGenRare@rd-research.org.uk.
Patient and Public Involvement and Engagement (PPIE)
PPIE is central to the success of the EpiGenRare Node; it informs all the research and networking activities that we undertake. We are ensuring PPIE is embedded into this project by: inviting patient support group representatives into the Scientific Advisory Board and the wider EpiGenRare Network; co-developing patient information resources and evidence-based management guidelines for epigenetic disorders with patient support groups; contributing to family education days for epigenetic disorders.
EpiGenRare Outputs
Publications
| wdt_ID | wdt_created_by | wdt_created_at | wdt_last_edited_by | wdt_last_edited_at | Category | Letters/corrections/proceedings, queries | Clinical trials | Disease gene discoveries | Phenotype expansion | Mechanistic studies | Translational studies | Genetic counselling / PPIE | Title | Authors | Citation | First Author | Journal/Book | Publication Year | Create Date | PMCID | NIHMS ID | DOI | PMID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 585 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:06 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:31 PM | Mechanistic studies | Y | Transcriptional and cellular response of hiPSC-derived microglia-neural progenitor co-cultures exposed to IL-6. | Couch, A. C. M., Brown, A. M., Raimundo, C., Solomon, S., Taylor, M., Sichlinger, L., Matuleviciute, R., Srivastava, D. P., & Vernon, A. C. | Amalie Couch | Brain Behav Immun | 2024 | 10.1016/j.bbi.2024.08.007 | 39098436 | ||||||||||
| 586 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:08 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:34 PM | Mechanistic studies | Y | Acute IL-6 exposure triggers canonical IL6Ra signaling in hiPSC microglia, but not neural progenitor cells. | Couch, A. C. M., Solomon, S., Duarte, R. R. R., Marrocu, A., Sun, Y., Sichlinger, L., Matuleviciute, R., Polit, L. D., Hanger, B., Brown, A., Kordasti, S., Srivastava, D. P., & Vernon, A. C. | Amalie Couch | Brain Behav Immun | 2023 | PMC10682389 | 10.1016/j.bbi.2023.02.007 | 36781081 | |||||||||
| 587 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:09 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:31 PM | Mechanistic studies | Y | Analysis of higher order interactions quantifies co-ordination in the epigenome and reveals novel biological relationships in Kabuki syndrome. | Cuvertino, S., Garner, T., Martirosian, E., Walusimbi, B., Kimber, S. J., Banka, S., & Stevens, A. | Sara Cuvertino | bioRxiv | 2024 | 10.1101/2024.03.11.584387 | |||||||||||
| 588 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:13 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:34 PM | Mechanistic studies | Y | Recommendations, guidelines, and best practice for the use of human induced pluripotent stem cells for neuropharmacological studies of neuropsychiatric disorders. | Dutan Polit, L., Eidhof, I., McNeill, R. V., Warre-Cornish, K. M., Yde Ohki, C. M., Walter, N. M., Sala, C., Verpelli, C., Radtke, F., Galderisi, S., Mucci, A., Collo, G., Edenhofer, F., Castrén, M. L., . . . Srivastava, D. P. | Lucia Dutan | Neuroscience Applied | 2023 | 10.1016/j.nsa.2023.101125 | |||||||||||
| 589 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:15 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:32 PM | Mechanistic studies | Y | Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis. | Mackay, D. J. G., Gazdagh, G., Monk, D., Brioude, F., Giabicani, E., Krzyzewska, I. M., Kalish, J. M., Maas, S. M., Kagami, M., Beygo, J., Kahre, T., Tenorio-Castano, J . . . Tumer, Z. | Deborah Mackay | Clin Epigenetics | 2024 | 10.1186/s13148-024-01713-y | |||||||||||
| 590 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:17 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:32 PM | Mechanistic studies | Y | The Intellectual Disability Risk Gene Kdm5b Regulates Long-Term Memory Consolidation in the Hippocampus | Perez-Sisques, L., Bhatt, S. U., Matuleviciute, R., Gileadi, T. E., Kramar, E., Graham, A., Garcia, F. G., Keiser, A., Matheos, D. P., Cain, J. A., Pittman, A. M., Andreae, L. C., Fernandes, C., Wood, M. A., Giese, K. P., & Basson, M. A. | Leticia Perez-Sisques | J Neurosci | 2024 | PMC11079963 | 10.1523/JNEUROSCI.1544-23.2024 | 38575342 | |||||||||
| 591 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:19 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:33 PM | Mechanistic studies | Y | Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome. | Rots, D., Bouman, A., Yamada, A., Levy, M., Dingemans, A. J. M., de Vries, B. B. A., Ruiterkamp-Versteeg, M., de Leeuw, N., Ockeloen, C. W., Pfundt, R., de Boer, E., Kummeling, J., van Bon, B., van Bokhoven, H., . . . Kleefstra, T. | Dmitrijs Rots | Am J Hum Genet | 2024 | PMC11339614 | 10.1016/j.ajhg.2024.06.008 | 39013458 | |||||||||
| 592 | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:21 PM | gabrielle.parkinson@manchester.ac.uk | 21/11/2024 04:34 PM | Disease gene discoveries | Y | Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes. | Rots, D., Choufani, S., Faundes, V., Dingemans, A. J. M., Joss, S., Foulds, N., Jones, E. A., Stewart, S., Vasudevan, P., Dabir, T., Park, S. M., Jewell, R., Brown, N., . . . Banka, S. | Dmitrijs Rots | Am J Hum Genet | 2024 | PMC11339626 | 10.1016/j.ajhg.2024.06.009 | 39013459 |