Early biomarkers
Which blood or urine markers change in carriers before symptoms, and how long before.
For researchers
A cohort you will not find anywhere else
Longitudinal samples and data from genetic CJD patients, healthy E200K carriers and their relatives, free for approved research.
The cohort
What the biobank holds
| Item | Details |
|---|---|
| Participants | Patients with genetic or sporadic CJD, healthy carriers, and first- and second-degree relatives of genetic patients. 355 samples collected so far, toward 500 participants. |
| Samples | Blood, urine, saliva and cheek swabs, collected by a hospital biobank's clinical team. |
| Questionnaires | Lifestyle and history questionnaires, and interviews with patients and families about life before the disease. |
| Timing | Repeated collection over several years, to study change over time and the conversion from carrier to patient. |
| Privacy | Coded: researchers receive samples and data under a number, never a name. |
Access model
Free samples, shared results
Researchers do not pay for samples. In return, we ask for the results of every study. Over time, each sample builds up a rich set of measurements that becomes one shared dataset for big-data and AI research.
Tell us about your study
The question, the samples and data you need, and your team.
Scientific review
An independent committee of senior scientists and the foundation reviews and prioritises requests.
Agreement and transfer
A material and data transfer agreement, including how results come back to the biobank.
Share your results
Your results join the dataset for the next team, and we welcome joint publications.
Research questions
What the cohort can help answer
Triggers
Why some carriers become ill at 40 and others never do: genetic modifiers, stress, diet and environment.
Protective factors
Exome and multi-omics comparisons of affected and unaffected carriers in the same families.
Trial readiness
A well-characterised group of carriers who may, in future, take part in prevention trials.
Collaborations
Samples and data from the foundation have supported work with:
- PrionAtRisk, an international consortium searching for early biomarkers and treatment targets.
- Weizmann Institute of Science: multi-omics and lifestyle data for AI-based biomarker discovery, and a study of early immune markers.
- Harvard University and Boston University: brain organoids grown from carriers' blood cells, and exome sequencing to find risk and protective factors.
- Paris Brain Institute (ICM): testing candidate compounds in animal models of the disease.
- Tel Aviv University: nanotechnology compounds tested in those models.
Pilot funding
We fund small feasibility pilots in neuroscience, genetics, epigenetics, stem cells, gene editing, the microbiome, metabolomics and related fields. Good preliminary data helps researchers win larger grants. Tell us about your idea.
Coming next: a secure research data platform. We are building an online platform where approved researchers will be able to explore coded data. It is not open yet.