1. UCL Institute of Neurology Queen Square Brain Bank Department of Molecular Neuroscience The Queen Square Brain Bank Tamas Revesz Professor of Neuropathology Queen Square Brain Bank for Neurological Disorders, Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London Open Access Biobanks @ UCL 18th April 2013

2. UCL Institute of Neurology Queen Square Brain Bank Human tissue has remained an essential component of research in neurodegenerative diseases Alzheimer’s disease –Isolation of the amyloid-  peptide (Glenner et al. 1984) –Identification of tau as the major component of neurofibrillary tangles (Goedert et al. 1988) Parkinson’s disease –Identification of  -synuclein as the major protein in Lewy bodies (Spillantini et al. 1997) Frontotemporal dementias and motor neuron disease (MND/ALS) –Identification of TDP-43 (Neumann et al. 2006) Human brain tissue in neuroscience research and understanding disease

3. UCL Institute of Neurology Queen Square Brain Bank Animal models do not fully recapitulate human disease New technologies provide new opportunities for research using human tissue –RNA expression profiling –Proteomics –In-depth DNA studies Target validation once disease modifying therapies become available Is it still important to collect human brain tissue?

4. UCL Institute of Neurology Queen Square Brain Bank Brain banks systematically collect clinically well characterised, appropriately stored high quality human tissue Brain banking is a complex task requiring long-term investment by and close collaboration between –Patient organisations –University/Health authority/research grant providing bodies –Clinicians –Neuropathologists –Neuroscientists –INDUSTRY Important legal, ethical considerations Brain banking

5. UCL Institute of Neurology Queen Square Brain Bank Queen Square Brain Bank - since 1985 Part of University College London, Institute of Neurology Member of the MRC UK Brain Banks Network http://www.mrc.ac.uk/Ourresearch/Resourceservices/UKBrainBanksnetwork/index.htm Queen Square Brain Bank Gene epxression Proteomics etc.

6. UCL Institute of Neurology Queen Square Brain Bank (N = 2059)Large numbers of cases of several diseases (N = 2059) Parkinson’s disease, atypical parkinsonism (PSP, MSA, CBD), Frontotemporal lobar degenerations etc. Correlation of clinical and pathological features Genetic studies single gene mutations genetic risk factors: H1 & H2 tau haplotype, GBA heterozygosity GWAS studies (Parkinson’s disease; PSP; MSA; FTD) Gene expression Proteomics etc. Small numbers of cases of rare diseases Familial British and familial Danish dementias Dystonia Tourette syndrome etc. Queen Square Brain Bank

7. UCL Institute of Neurology Queen Square Brain Bank Diagnosis of cases, Queen Square Brain Bank; 1989 - 2010 Queen Square Brain Bank, UCL Institute of Neurology

8. UCL Institute of Neurology Queen Square Brain Bank TISSUE DONATION Half fixed in formaldehyde BRAIN Half frozen Half brain is transported immediately to QSBB for flash freezing Slow frozen at mortuary and transported to QSBB later

9. UCL Institute of Neurology Queen Square Brain Bank Contact Brain Bank Complete declaration of intent to donate form Word of mouth NHS clinic Information from patient organisations counselling Details entered on register of prospective donors Donor can withdraw at any time Letter sent to GP by QSBB Encouraged to discuss donation with family/friends Inform Brain Bank of death Organise autopsy Brain received and retained by the QS Brain Bank Withhold consent (no further action) Seek informed, written consent Inform GP, specialist consultant, family Neuropathological diagnosis Dissemination of tissue for research Prospectively studied cases

10. UCL Institute of Neurology Queen Square Brain Bank Contact Brain Bank Complete declaration of intent to donate form Word of mouth NHS clinic Information from patient organisations counselling Details entered on register of prospective donors Donor can withdraw at any time Letter sent to GP by QSBB Encouraged to discuss donation with family/friends Inform Brain Bank of death Organise autopsy Brain received and retained by the QS Brain Bank Withhold consent (no further action) Seek informed, written consent Inform GP, specialist consultant, family Neuropathological diagnosis Dissemination of tissue for research London Ethics Committee approved protocols

11. UCL Institute of Neurology Queen Square Brain Bank Contact Brain Bank Complete declaration of intent to donate form Word of mouth NHS clinic Information from patient organisations counselling Details entered on register of prospective donors Donor can withdraw at any time Letter sent to GP by QSBB Encouraged to discuss donation with family/friends Inform Brain Bank of death Organise autopsy Withhold consent (no further action) Seek informed, written consent Inform GP, specialist consultant, family Neuropathological diagnosis Dissemination of tissue for research Tissue is stored under a licence from the Human Tissue Authority Brain received and retained by the QS Brain Bank

12. UCL Institute of Neurology Queen Square Brain Bank Governance Management Board Management Board Management Team Tissue request committee Local HTA committee Director, UCL Institute of Neurology Head, Department of Molecular Neuroscience Director of the IoN, Head of Dept. Molecular Neurosci, Directors of the QSBB, Neuropathologist, Representatives of charities Tissue users’ representatives, Outside neuropathologists with experience in brain baking

13. UCL Institute of Neurology Queen Square Brain Bank http://www.ucl.ac.uk/ion/departments/molecular/themes/neurodegeneration/brainbank

14. UCL Institute of Neurology Queen Square Brain Bank Newsletter published annually is sent to registered donors, patient organisations

15. UCL Institute of Neurology Queen Square Brain Bank Staff Directors Professor Tom Warner Professor Tamas Revesz Neuropathologist Dr Janice Holton Post-doctoral fellows Dr Tammaryn Lashley Dr Aoife Keily Dr Sarah Pressey Research technicians Mrs Linda Parsons Mrs Kate Strand Ms Hilary Ayling Mr Robert Courtney Ms Christina Murray Ms Corinna Washbrook Administrator Ms Susan Stoneham Research nurse Ms Karen Shaw Research students Dr David Williams (PhD student) Ms Simone Sharma (PhD student) Dr Laura Silveira-Moriyama (PhD student) Dr Luke Massey (PhD student) Dr Helen Ling (PhD student) Mr Jack Brelstaff (PhD student) Ms Yasmine Asi (PhD student) Visiting fellows Dr Keith Josephs Dr Tetsutaro Ozawa Ms Christine Song (PhD student) Dr Yarko Compta

16. UCL Institute of Neurology Queen Square Brain Bank Funding The Reta Lila Weston Institute for Neurological Science Progressive Supranuclear Palsy (Europe) Association Parkinson’s UK The Alzheimer Research Trust The Multiple System Atrophy Trust MRC

17. NeuroResource can provide samples for studies on Multiple sclerosis Normal control CNS tissue Other CNS diseases, including MND and stroke Contact: Dr. Jia Newcombe j.newcombe@ucl.ac.uk The NeuroResource Tissue Bank UCL Institute of Neurology

18. UCL Institute of Neurology Queen Square Brain Bank