Research Tools
This resource provides a comprehensive overview of key tools and data sources to support PURA Syndrome research and clinical work.
This centralized resource is designed to facilitate collaboration and accelerate research and therapeutic development for PURA Syndrome. Information was gathered and formatted by Odylia Therapeutics and the PURA Syndrome Foundation. Updated 9/24/25
Click the links to be directed to that section below:
Research Models
Cell Models
Mouse Models
Frog Models
Zebrafish Models
Worm Models
Fly Models
Click the following link for a PDF document of the Research Tools:
BIOBANKS
| Source Country | Description |
| Germany | The PURA-Biobank will involve the collection of a combination of prospective and retrospective samples from consented PURA syndrome patients globally. The samples will be used for research with the long-term goal to understand and develop treatment strategies against PURA syndrome or related disorders that include genomic deletion or duplication of the PURA gene as well as other neurological disorders. |
| Australia | The Australia Biobank is part of a large research program focused on developmental and epileptic encephalopathies, including PURA Syndrome. The program aims to identify new genetic causes, characterize over 900 known disorders, and explore their psychosocial and health economic impacts. It supports the development of new standards of care and prepares for precision medicine trials. The biobank collects specimens from participants, links clinical information to cellular studies, and generates cell lines to investigate disease mechanisms. |
| USA – Coming Soon! | The COMBINEDBrain Biorepository is a collaborative initiative aimed at accelerating research into rare genetic neurodevelopmental disorders. Managed by COMBINEDBrain, a nonprofit consortium of over 60 patient advocacy groups, the biorepository collects and stores biological samples—such as blood, urine, and tissue—from individuals diagnosed with these conditions. These samples are made available to researchers worldwide to identify biomarkers and develop targeted treatments. |
PATIENT DATA
| Data type | Institution/ Organization |
Contact | Description |
| Natural History Study | University of Southampton | D.Baralle@soton.ac.uk | The PURA Syndrome Longitudinal Natural History Study is an ongoing, web-based registry launched in 2022 to collect comprehensive clinical data from patients with PURA syndrome to understand its long-term progression, management, and outcomes. Led by the University of Southampton, the registry allows families and clinicians to contribute data on the condition’s symptoms, development, and overall health, providing essential information for managing the rare genetic disorder and supporting drug development |
| Patient Registry – Coming Soon! | Managed by the PURA Syndrome Foundation through COMBINEDBrain | info@purasyndrome.org | The COMBINEDBrain Patient Registry is a global initiative designed to accelerate research and treatment development for rare genetic neurodevelopmental disorders. Managed by COMBINEDBrain, a nonprofit consortium of over 60 patient advocacy groups, the registry collects and centralizes health data from individuals diagnosed with these conditions. |
RESEARCH MODELS
(*): Unknown
(?): Needs to verified
(-): Does not exist
Cell Models
| Cell type | Genotype | PI/ Institution | Availability/Contact | Publications |
| Patient-derived [unknown cell type]* |
* |
James Dowling, MD, PhD | James.Dowling@pennmedicine.upenn.edu | – |
| iPSC | PURA_A89P (+/+, +/-, -/-) | JAX |
|
– |
| iPSC | PURA_F271del (+/+, +/-, -/-) | JAX |
|
– |
| iPSC | PURA_G179 (+/+, +/-, -/-) | JAX |
|
– |
| iPSC | PURA KO (-/-) | Dierk Niessing, PhD | dierk.niessing@helmholtz-munich.de | (Bacher et al. 2025) |
| * | * | Christopher Reid, Florey Institute, Australia | christopher.reid@unimelb.edu.au | – |
Mouse Models
| Species | Genotype | PI/ Institution | Availability/Contact info | Publications |
| C57/BL6 | PURA (+/-), PURA (-/-) | Jennifer Gordon, Temple University | ||
| BALB/c | PURA (-/-) | Jochen Herms, PhD, DZNE | jochen.herms@dzne.de Link to Model |
(Hokkanen et al., 2012) |
| * | PURA KO (?) | Dierk Niessing, PhD | dierk.niessing@helmholtz-munich.de | – |
| * | PURA KI (p.Phe233del) | Christopher Reid, Florey Institute, Australia | christopher.reid@unimelb.edu.au | – |
| C57BL/6J | PURA (-/-) exon 2 deleted | JAX | C57BL/6J-Puraem2Lutzy/Mmjax | – |
| C57BL/6J |
PURA cKO exon 2 deleted |
JAX | C57BL/6J-Puraem1Lutzy/Mmjax | – |
| * | * | Stanley Iyudurai | – |
Frog Models
| Species | Genotype | PI/ Institution | Availability/Contact info | Publications |
| Xenopus | PURA KO | Matt Guile, PhD, University of Portsmouth | Matthew.Guille@port.ac.uk |
– |
Zebrafish Models
| Species | Genotype | PI/ Institution | Availability/Contact info | Publications |
| Danio rerio | puraa^mde28Gt^ | Bettina Schmid, DZNE |
https://zfin.org/ZDB-ALT-250402-2#summary
|
– |
| Danio rerio | purab^mde29Gt^ | Bettina Schmid, DZNE | https://zfin.org/ZDB-ALT-250415-1 | – |
| Danio rerio | Puraa (-/-); purab (-/-) | James Dowling, MD, PhD | James.Dowling@pennmedicine.upenn.edu | Data presented at 2024 PURA Syndrome Conference |
Worm Models
| Species | Genotype | PI/ Institution | Availability/Contact info | Publications |
| C. elegans | plp-1 (-/-) | James Dowling, MD, PhD | James.Dowling@pennmedicine.upenn.edu | Data presented at 2024 PURA Syndrome Conference |
Fly Models
| Species | Genotype | PI/ Institution | Availability/Contact info | Publications |
| D. melanogaster | UAS-PURA^G179Wfs*22^ | Shinya Yamaoto, DVM., PhD | yamamoto@bcm.edu | – |
| D. melanogaster | UAS-PURA^A89P^ | Shinya Yamaoto, DVM., PhD | yamamoto@bcm.edu | – |
| D. melanogaster | UAS-PURA^F231C^ | Shinya Yamaoto, DVM., PhD | yamamoto@bcm.edu | – |
| D. melanogaster | UAS-PURA^F233del^ | Shinya Yamaoto, DVM., PhD | yamamoto@bcm.edu | – |
| D. melanogaster | UAS-PURA^F271del^ | Shinya Yamaoto, DVM., PhD | yamamoto@bcm.edu | – |
| D. melanogaster | Pur-α^CR71382-KO-kG4^ | FlyBase | https://flybase.org/reports/FBal0399808 |
ANTIBODIES
(*): Unknown
| Antibody | Catalog # | Host species | Clonality | Species Reactivity | Applications | KO validated | Publications |
| Anti-PURA | ab79936 | Rb | Polyclonal | Human, Mouse | WB, IF | * | (Gao et al., 2021) |
| Anti-PURA | ab125200 | Rb | Polyclonal | Human | IP | * | (Gao et al., 2021) |
| PURA Antibody | 3F10 | Ms | Monoclonal | Human, Mouse, Rat | WB, ELISA, ICC/IF | * | (Kuo et al., 2020) |