research
play

Open collaboration for research 8 steps from Black Bone Disease Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure 1902: Sir Archibald Garrod Harwa Oldest AKU Patient 1500BC Stenn et al 1977 Step 1:

0 downloads 4 Views 1,98 MB Size Report
  1. Open collaboration for research 8 steps from Black Bone Disease Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure

  2. 1902: Sir Archibald Garrod

  3. Harwa Oldest AKU Patient 1500BC Stenn et al 1977

  4. Step 1: Working with scientists to understand the disease

  5. Metabolic pathway Phenylketonuria DOPA Melanin Albinism Nitisinone Alkaptonuria Tyrosinaemia type 1

  6. The AKU tetrad

  7. Effects on spine Sofia Michopoulou & Andrew Todd Pokropek

  8. A cell model AKU Research Team

  9. AKU mouse model Springer-Verlag

  10. Nitisinone

  11. Nitisinone reduces homogentisic acid by 95%

  12. Urinary HGA National Institutes of Health

  13. Urinary HGA

  14. Step 2: Working with clinicians for a centre of excellence

  15. The Robert Gregory National Alkaptonuria Centre Funded by NHS England

  16. Step 3: Working with clinical trial centres

  17. Three Studies Trial Name Description Sites SONIA 1 : Suitability of 3-month phase II study UK/Slovakia Nitisinone in Alkaptonuria 1 SONIA 2 : Suitability of 4-year phase III UK/Slovakia/France Nitisinone in Alkaptonuria 2 SOFIA : Subclinical Ochronosis Features Cross-sectional study UK in Alkaptonuria

  18. Three Clinical Trial Sites 1) Liverpool, UK Royal Liverpool University Hospital PI: Prof L Ranganath 2) Paris, France Hôpital Necker PI: Prof Pascale de Lonlay 3) Piešťany , Slovakia National Institute of Rheumatic Disease PI: Prof Jozef Rovenský

  19. Step 4: Working as a consortium with industry

  20. The DevelopAKUre partners

  21. Step 5: Working with patients around the world

  22. A global patient movement

  23. Social media • Facebook • Twitter, • Google +, • Pinterest

  24. Online communities

  25. Websites

  26. AKU Societies in EU, Asia, Middle East and North America • AKU Society UK • ALCAP (France) • AIMAKU (Italy) • AKU Society Germany • AKU Society Netherlands • AKU Society Jordan • AKU Society India • AKU Society Slovakia • AKU Society North America (USA and Canada) • AKU Society Belgium (in progress) • AKU Society Sweden (in progress) • AKU Society Asia (in progress)

  27. AKU patient Ann

  28. Prof Ranganath, Coordinator of DevelopAKUre

  29. "These trials have given us great hope. This treatment could completely change our lives. We’re that one step closer to a cure .” - Belgium AKU patient

  30. AKU patients Brenda, Sharon and Jennifer

  31. Step 6: Learning from other patient groups

  32. Step 7: Working more broadly with other stakeholders

  33. Step 8: Sharing with the wider stakeholder community

  34. www.findacure.org.uk

  35. Rare Diseases: Challenges and Opportunities for Social Entrepreneurs Out now! With chapters from leaders in the rare disease sector Contact: nick@akusociety .org

  36. www.akusociety.org nick@akusociety.org

Recommend Documents


trespassing knowledge
TRESPASSING KNOWLEDGE RESEARCH AS

1 Emma Bolland: Lecture for the MFA Art, Society & Publics. Duncan of

what is research an introduction
What is research? An Introduction COM

What is research? An Introduction COM 432 Dr Yeoh Kok Cheow What is

tuberculosis researches in thailand
Tuberculosis Researches in Thailand

TB research lab >> TB research lab >> TB research lab >>

an introduction to open research
An introduction to Open Research

An introduction to Open Research Library Research Services Research Data

types of research and research design
Types of Research and Research Design

Types of Research and Research Design By Dario Kuzmanovi Office of Research

ms research revolution
MS Research Revolution Research that

MS Research Revolution Research that will STOP MS in its tracks. Research that

where will your research take you why do research pursue
Where will your research take

Where will your research take you? Why Do Research? Pursue

1 cs research process
1. CS research process Check research

Notes on research methodogy CS2001 fall 2003 Rami Melhem CS research

research can be fun informative and
Research can be fun, informative and

Research can be fun, informative and relatively painless. All you need is a

research dis isrupted
Research Dis isrupted: Protecting

Research Dis isrupted: Protecting Federal Research In Investments and the

kay parkinson director and founder alstr m syndrome uk
Kay Parkinson Director and Founder,

Kay Parkinson Director and Founder, Alstrm Syndrome UK,& EU Charity

nathespitz aol com
nathespitz@aol.com Perkins Webinar

Anne Spitz, M.Ed. Teacher of the Visually Impaired nathespitz@aol.com

lysocil
LYSOCIL Excel in Rare Diseases

LYSOCIL Excel in Rare Diseases Research: Focus on LYSOsomal Disorders and

tips for a better eye exam
TIPS FOR A BETTER EYE EXAM Emily

TIPS FOR A BETTER EYE EXAM Emily Schmidt COT I have no relevant financial or

overview of childhood visual impairment and blindness
Overview of childhood visual

Overview of childhood visual impairment and blindness EU Regulatory Workshop

diabetes and low vision rehabilitation past present and
Diabetes and Low Vision

4/18/19 Diabetes and Low Vision Rehabilitation: Past, Present, and Future

cerebral palsy perceptions survey report presentation
Cerebral palsy : Perceptions Survey

Cerebral palsy : Perceptions Survey report Presentation Bird Eye view

little tembo
Little Tembo We are different. Not

Little Tembo We are different. Not less. Our campaign aims to raise awareness

disability in the right spotlight
Disability in the Right Spotlight The

M ONTHLY S PEAKERS S ERIES Disability in the Right Spotlight The University of

aucd international fellows inclusive education leads to
AUCD INTERNATIONAL FELLOWS: INCLUSIVE

AUCD INTERNATIONAL FELLOWS: INCLUSIVE EDUCATION LEADS TO INCLUSIVE EMPLOYMENT

fy2018 results briefing
FY2018 RESULTS BRIEFING We respect,

FY2018 RESULTS BRIEFING We respect, care and deliver ZIMPLATS LOCATION AND

11a h amp h infection control 11a h amp h infection
11a H&H: Infection Control 11a

11a H&H: Infection Control 11a H&H: Infection Control Class Outline 5