Shining a light on epilepsy The key role

Shining a light on epilepsy The key role of charities in supporting brain research Peter Murphy, Deputy CEO, Epilepsy Ireland www. epilepsy. ie

Shining a light on epilepsy NAI Survey • Aim: to explore the support provided by NAI member organisations for research into neurological conditions • Online questionnaire, January 2015 • 14 charities www. epilepsy. ie

Shining a light on epilepsy Infrastructure Does your organisation's strategic plan outline specific targets or goals in relation to research? www. epilepsy. ie

Shining a light on epilepsy Infrastructure Does your organisation have a formal research strategy? www. epilepsy. ie

Shining a light on epilepsy Infrastructure Research Committee? Staff with research responsibilities? www. epilepsy. ie

Shining a light on epilepsy Barriers What are the main barriers for your organisation in actively supporting research into neurological conditions? www. epilepsy. ie

Shining a light on epilepsy Partnerships Does your organisation have an ongoing relationship with an academic or research institution(s) carrying out scientific research into neurological conditions? www. epilepsy. ie

Shining a light on epilepsy Partnerships www. epilepsy. ie

Shining a light on epilepsy Funding • • Average amount invested p. a. : € 50, 000 Typically <5% of the annual budget 5 – 10%: One organisation >30%: Two organisations www. epilepsy. ie

Shining a light on epilepsy Funding now versus five years ago www. epilepsy. ie

Shining a light on epilepsy Type of research funded • • • Basic science/ Genetics 3 Psychosocial research 2 Epidemiological research 2 Health Services 2 Treatments, therapies, devices or technologies Evaluation of organisation’s programmes/services by external researchers with a view to publication www. epilepsy. ie 3 2

Shining a light on epilepsy Summary • Strong (and growing) support for research from NAI members • Financial & Non-financial supports • Organisations becoming more strategic and professional in approach to research • Diversity in the research supported • Significant barriers DO exist www. epilepsy. ie

Shining a light on epilepsy Implications for researchers • Goodwill • Charities open to partnerships • Benefits to working with charities: – – Viable alternative for securing funding Access to PWNC Dissemination and education channels PPI • Charities also need support from wider research community • Responsibilities www. epilepsy. ie

Shining a light on epilepsy Implications for charities • • • How NB is research to your organisation & stakeholders? How high are YOUR barriers? What do you want to achieve? How can you get there? Other charities experiences www. epilepsy. ie

Shining a light on epilepsy Epilepsy Ireland & Research: "To undertake, encourage and assist research into the causes of, cure for and management of epilepsy and into the social and psychological effects of the condition". www. epilepsy. ie

Shining a light on epilepsy Strategic Approach: • • • Annual research priorities Annual budget allocation for research Formal application process Co-ordination with the MRCG/ HRB Joint Funding Scheme Peer review system Research Advisory Committee Contracting, Monitoring & Evaluation Sustainability Research Communications www. epilepsy. ie

Shining a light on epilepsy Research Priorities Round 1 Round 2 Round 3 Round 4 Round 5 All Projects. Emphasis on Restricted to All Projects. Emphasis on Psychosocial Aspects Psychosocial Aspects SUDEP SUDEP Generics Intellectual disability Teenagers Epilepsy Specialist Nursing Epilepsy in the elderly Memory & Epilepsy in men Generics Economic cost www. epilepsy. ie

Shining a light on epilepsy The Process October January February/ March April May July September October June Launch & promote Call Application Deadline Internal review of applications International Peer Review Right to Reply Research Review Committee Board/ F&A approval Submit to HRB Panel decides Contracts & Admin Projects begin Annual Reports www. epilepsy. ie

Shining a light on epilepsy Research Review Board www. epilepsy. ie

Shining a light on epilepsy Epilepsy Ireland Research Funding Scheme: • Launched in 2009 • 8 projects funded since 2010 – From 38 applications (21% funded) – 17 deemed ‘fundable’ (47% funded) • Investment of € 780, 000 to date – From € 4. 4 m applied (18% funded) • Approx € 110, 000 p. a. (7% of budget) • 1 -3 year projects up to 50 k p. a. • 6 projects on 50/50 basis via the Joint Funding Scheme www. epilepsy. ie

Shining a light on epilepsy Projects Investment – Research Type Psychosocial Genetics/ Basic Science SUDEP Health Services Research www. epilepsy. ie

Shining a light on epilepsy A pharmacogenomic study of chronic refractory epilepsy Dr. Gianpiero Cavalleri - RCSI Dates: Funding: 2010 -2012 (completed) € 148, 000 (with HRB) Aims: • Identify genetic factors predicting chronic, drug resistant epilepsy as well as response to particular classes of AEDs. • Identify the pathophysiology of epilepsy • Investigate new therapeutic avenues (personalised treatment) www. epilepsy. ie

Shining a light on epilepsy A pharmacogenomic study of chronic refractory epilepsy Dr. Gianpiero Cavalleri - RCSI Outcomes: • 400 patients recruited and genetically profiled • Enabled participation in large international collaboration • No clear predictors of refractory epilepsy identified • Identified gene involved in CBZ-induced Stevens-Johnson syndrome • Confirmed SCN 1 A gene as a risk factor for TLE • Identified genetic predictors re the volume of the hippocampus • Identified role of TDP 2 gene mutations in PWE&ID www. epilepsy. ie

Shining a light on epilepsy A pharmacogenomic study of chronic refractory epilepsy Dr. Gianpiero Cavalleri - RCSI Outcomes: • 7 peer-reviewed publications including NEJM, Nature Genetics, Lancet • 3 conference presentations • Further funding – SFI € 624, 000 career development award – EU FP 7 funding – co-applicant in € 6 m award – US funding – Co-applicant in € 25 m award www. epilepsy. ie

Shining a light on epilepsy Genome-wide DNA methylation analysis of hippocampus from patients with pharmacoresistant TLE Prof David Henshall, RCSI Dates: 2012 - 2013 (completed) Funding: € 75, 000 (with HRB) Aims: • To study a novel mechanism regulating how genes are turned on or off; DNA methylation. • To develop a DNA methylation "map" of epilepsy to identify why certain proteins/ enzymes are made or not made. www. epilepsy. ie

Shining a light on epilepsy Genome-wide DNA methylation analysis of hippocampus from patients with pharmacoresistant TLE Prof David Henshall, RCSI Outcomes: • 146 protein-coding genes exhibited altered DNA methylation in TLE with 81. 5% of the promoters of these genes undergoing hypermethylation • Unique methylation changes found in the brain of patients with TLE • identified methylation changes to “non-coding RNA” including Micro. RNA • “The first genome-wide analysis of DNA methylation changes in human epilepsy” www. epilepsy. ie

Shining a light on epilepsy Genome-wide DNA methylation analysis of hippocampus from patients with pharmacoresistant TLE Prof David Henshall, RCSI Outcomes: • Further funding – SFI € 1 million grant 2014 – SFI PI € 0. 9 million grant 2014 – EU FP 7 funding – € 11. 5 m funding to continue Micro RNA research (Epi. Mi. RNA project) • Numerous publications (inc Nature, J Neuroscience) book chapters, national/ international presentations (inc ECE 2012) • Mainstream Media coverage (RTE TV, RTE Radio, Newstalk) • Published in Brain this month www. epilepsy. ie

Shining a light on epilepsy Baroreflex sensitivity in individuals with epilepsy, does it play a role in SUDEP? Dr. Yvonne Langan, St James’s Dates: 2010 -2012 (completed) Funding: € 80, 000 Aims: • To better understand the autonomic processes involved in SUDEP • To examine the autonomic function of the heart in PWE compared to individuals without epilepsy • Specific focus on Heart Rate Variability and Baroreflex sensitivity (maintaining normal blood pressure) www. epilepsy. ie

Shining a light on epilepsy Baroreflex sensitivity in individuals with epilepsy, does it play a role in SUDEP? Dr. Yvonne Langan, St James’s Outcomes: • 84 patients recruited (42 PWE v 42 controls) • HRV and Baroreflex sensitivity reduced in PWE • Seizure activity may impact on ANS structures in brain • Confirmed previous smaller scale work on HRV • First study to implicate BS in SUDEP • Poor awareness of SUDEP among participants • Winner, INA Kirker Prize 2013 www. epilepsy. ie

Shining a light on epilepsy An evaluation of the role of the Epilepsy Specialist Nurse and the impact on patient quality of life. Prof Agnes Higgins, TCD Dates: 2013 -2015 (ongoing) Funding: € 150, 000 (with HRB) Aims: • To establish if there are Qo. L differences between patients who have access to an ESN and those who don't • To assess the position of ESNs in Ireland their impact on the patients' quality of life. • To determine whether or not the ESN is cost-effective to the public. www. epilepsy. ie

Shining a light on epilepsy Demystify the veil of secrecy: a mixed method inquiry of parent -child dialogue about epilepsy and its stigma Dr Veronica Lambert, DCU Dates: 2013 -2015 (ongoing) Funding: € 93, 000 (with HRB) Aims: • To assess the relationship between parents’ perceptions of epilepsy and perceived stigma to family communication patterns, parenting styles, children’s seizure severity & children’s own perceptions of epilepsy. • To explore dialogue practices about epilepsy and epilepsy associated stigma within families from both parent and child perspective • To lay foundations for a family based communication intervention. www. epilepsy. ie

Shining a light on epilepsy The collaborative development of an evidence-based educational resource for self-disclosure strategies for PWE Dr Naomi Elliott, TCD Dates: 2014 -2016 (ongoing) Funding: € 149, 000 (with HRB) Aims: • To understand the psychosocial aspects of how adult PWE self-disclose information about their condition to others • To develop an educational resource that will enable PWE to develop a repertoire of strategies for disclosure as part of everyday life. www. epilepsy. ie

Shining a light on epilepsy Epilepsy Deaths Register: www. epilepsy. ie

Shining a light on epilepsy Research Communications: • Disseminating outcomes of funded & non-funded research – – – Videos Newsletters Online Social media Conferences Through fundraising projects www. epilepsy. ie

Shining a light on epilepsy Research Communications: • Utilising the media www. epilepsy. ie

Shining a light on epilepsy Research Communications: • Volunteer recruitment & Membership participation www. epilepsy. ie

Shining a light on epilepsy Research Communications: • Research Events www. epilepsy. ie

Shining a light on epilepsy Epilepsy Ireland Summary: • • • € 780, 000 invested in 8 projects Value for Money (JFS) High profile genetic discoveries and publications Avenue to further funding Implications for health service development and advocacy Focus on psychosocial issues Developing future expertise and infrastructure Encouraging patient participation; linking to reseachers Providing dissemination channels www. epilepsy. ie

Shining a light on epilepsy Peter Murphy pmurphy@epilepsy. ie www. epilepsy. ie @epilepsyireland Facebook. com/epilepsy. ie www. epilepsy. ie