Dr Jennifer Hollywood wins the 2020 Professor Roz Anderson Memorial Prize at the 6th Annual Dublin Cystinosis Workshop 2020

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Successful Virtual 6th Annual Dublin Cystinosis Workshop 2020

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Cystinosis Ireland and CRN Co-fund Male Infertility Study

New cystinosis research publication from Dr Jennifer Hollywood and team at the University of Auckland

Congratulations to Dr Jennifer Hollywood and her research colleagues at the University of Auckland in NZ on their recent publication entitled:  Use of Human Induced Pluripotent Stem Cells and Kidney Organoids To Develop a Cysteamine/mTOR Inhibition Combination Therapy for Cystinosis.


Oral cysteamine therapy is the only treatment option for cystinosis patients and despite life-long use patients still require a kidney transplant due to progressive destruction of the proximal tubule segments. The reason for this remains unknown.

The authors developed induced pluripotent stem cell and kidney organoid models of cystinosis that exhibit cystine accumulation, increased apoptosis, enlarged lysosomes and defective basal autophagy.

Cysteamine treatment was unable to rescue the basal autophagy defect however, mTOR inhibition with everolimus was able to restore basal autophagy to levels of healthy controls.

Combination treatment with cysteamine was able to correct all cystinotic symptoms observed suggesting that a dual therapy may be therapeutic to patients with cystinosis and improve outcomes.

This research was partly funded by Cystinosis Ireland.

You can read the full research paper at:  Hollywood et al.2020

How can Cystinosis Ireland help you to include PPI in your HCRI-HRB joint funding application?

The Worldwide Cystinosis Community Advisory Board (Cystinosis CAB)

An opportunity HCRI-HRB Applicants to Avail of Structured Public Patient Involvement (PPI) – deadline 18 October 2019

As you are aware, PPI in research is a key objective for the HRB and Cystinosis Ireland and will be an important evaluation aspect of all funding applications to the HCRI-HRB Joint Funding Scheme 2020.

In this context, we would like to make you aware that cystinosis patient groups in Europe, the US and further afield have come together and formed the Worldwide Cystinosis Community Advisory Board (Cystinosis CAB).  Cystinosis Ireland is a founder member of the Cystinosis CAB.

Under the mentorship of EURORDIS, the Cystinosis CAB meets with researchers and others to engage at the very earliest stages of research planning. The Cystinosis CAB members are from cystinosis patient organisations worldwide and they are receiving training in research development, the drug development process and everything associated with medical and scientific research in general.  They are an educated and informed panel of patient experts in cystinosis.

The Cystinosis CAB will be meeting at the end of October 2019 to review research and do other work.

This presents a significant opportunity for prospective applicants to the HCRI-HRB Joint Funding Scheme 2020 to get PPI feedback from patient stakeholders at the early stage of planning research proposals.

As part of the PPI aspect of the HCRI-HRB Joint Funding Scheme 2020, Cystinosis Ireland would like to request the Cystinosis CAB to review all applications for this scheme.  

We strongly encourage you to avail of this opportunity.

How can Applicants avail of this PPI opportunity? 

Applicants can avail of the input of the Cystinosis CAB by submitting to us a short briefing document (approximately 1-2 pages ) would need to be submitted to [email protected] before 5pm GMT on 18 October 2019 so that the Cystinosis CAB members have an opportunity to constructively review them.

The Cystinosis CAB members will meet to review each proposal and offer recommendations, etc to improve it.  Feedback from the Cystinosis CAB will be provided quickly to allow proposers make any amendments to proposals as necessary.   I would like to assure all researchers that the Cystinosis CAB process is completely confidential.  No information will be shared beyond the group without the explicit consent of the researcher(s) involved.

The Cystinosis CAB is cognizant of not increasing the workload on applicants any more than necessary. However, in order to provide useful and constructive feedback, the Cystinosis CAB requires the following information (approx. 1-2 pages; please use lay oriented language aimed at a non-scientific but very well informed patient/patient representative audience):

  1. Title of proposed research project 
  2. Description of the research proposed and the potential impact for patients living with cystinosis (use lay person’s language) 
  3. Proposed research methodology – In particular, please include any information that you feel might be relevant to how you think that people living with cystinosis might beneficially influence the proposed research design, plan, implementation, outputs etc
  4. Please state if you plan to have research collaborator(s) from Ireland or elsewhere (it is not an essential eligibility criterion to have an Irish collaborator) and provide the name(s) of the proposed collaborator(s) – please update if necessary
  5. How do you propose to engage in PPI during the research project life cycle?

Please note: this is a separate process to Cystinosis Ireland’s peer review process and HRB’s subsequent peer review processes.

It is not a peer review process. It is a patient involvement process.

The Cystinosis CAB’s involvement and recommendations should be highlighted strongly in your final application.  PPI is not about engaging patients is a superficial way.  Patients and patient representatives should be an integral part of the process, involved in study design as much as possible and where patients are not involved, the reasons should be given.  The Cystinosis CAB will also be relevant throughout a proposed research project life cycle.

Cystinosis Ireland’s deadline for the submission of full proposals is 15 November 2019.

This as an opportunity to strengthen the cystinosis research proposals being submitted to the HCRI-HRB Joint Funding Scheme 2020.

Public and Patient Involvement in Research – PPI

Cystinosis Ireland and the HRB are committed to promoting real engagement of the public and patients in the research that we support.

  • ‘Public’ means everyone in Ireland who has an interest in health and social care as a public service including potential users of services.
  • ‘Patient’ means people who use services such as patients, service users, clients or their carers.
  • ‘Involvement’ means the active involvement between people who use services, carers, the general public and researchers.

PPI can include, for example, involvement of the public and/or patients in the choice of research topics, assisting in the design, advising on the research project or in carrying out the research. A comprehensive approach to PPI by all HRCI-HRB applicants is recommended. Those for whom benefit is intended should be at the heart of decision-making within the research project.

Often, applicants are required to describe public or patient involvement in the proposed research throughout the various stages of research design and planning, conduct, analysis and dissemination.

Applicants must state whether public or patient involvement is included in the application and describe

  1. the purpose of the involvement,
  2. public or patient involvement to date and how that has influenced/changed what work has been planned, and
  3. public or patient involvement planned for the duration of the award.

PPI reviewers will have access to the entirety of the application, including the charity background information on work and strategic research priorities, plus accompanying peer reviews and right to reply from the applicant. They will focus in particular on how the research is described in the lay summary, the proposed impact of the work and dissemination channels, the specifics on public and patient involvement and will advise on whether the proposed budget is appropriately supporting PPI activities during the project (if appropriate).

It is recognised that the nature and extent of active public involvement may vary depending on the proposed study.

The Principal Applicant must clearly articulate how the level of public and patient involvement is appropriate to the specific research proposed.

The assessment of the proposal’s PPI approach may influence the assessment of any or all criteria depending on the nature of the proposed research.

In the HCRI-HRB joint funding scheme in particular, all proposals considered by the HRB’s Joint Selection Panel will be graded on how appropriate the level of PPI is for the research project they propose. This grading will inform the consensus Panel score, and therefore the final ranking and recommendation for funding.

HRCI-HRB Joint Funding Scheme 2020 – Information for Applicants