1. HOW A RETINAL PATIENT GROUP CAN INFLUENCE GENOTYPING IN A DEVELOPING COUNTRY RI Conference , Stresa, 2010

2. RETINA SA FACTS Established 1980 Annual Income around R1-2M per annum
Patient registry of 2900
Research project at University of Cape Town since 1980

3. UCT Research project Genetic Research
RP13 Dominant RP, splicerzome gene
RP 17 Dominant RP, carbonic Anhydrase gene
Stargardt Research, Quick 7 test for common mutations in SA families
Patient Services
Genotyping

4. UCT RESEARCH TEAM
L to R: C Nossek, L Roberts, Professors J Greenberg & R Ramesar, N Zitho and A Pandor [missing M Akinyi]

5. GENOTYPING RSA allocates budget Criteria : Youth Condition
Payment options

6. STEPS to GENOTYPING Register with RSA with a COD Genetic Counselling
Blood sample taken
DNA extracted
DNA banked
Microarray tests or Quick 7 test
Verification tests – PCR and probes
Gene sequencing tests
Results delivered by Genetic Counsellor

7. PATIENT REGISTRATION FORM

8. CONFIRMATION OF DIAGNOSIS FORM

9. PATIENT CATEGORIES Economically disadvantaged
Borderline – motivate for sponsorship
Affluent – contribute by donation
Young patients < 35 yrs old
Or family members
Carriers
Family members
Spouses

10. WHY GENOTYPE? Confirm a clinical diagnoses Management of the condition
Find patients for clinical trials or treatments
Tests for mutation carriers
Pre-symptomatic diagnosis of family members
Reproductive choices
To assist research  

11. DELIVERY OF RESULTS Number of tests done 50 283
Number of results delivered 218
Results awaiting delivery 300
Results being delivered in July

12. ESTABLISHING PATIENT COHORT
Stargardt Dystrophy
Number of patients 262
No of families characterised 105
Ideal cohort for patient trials
Highlighting national differences
Strategies for national projects for treatment

13. Conclusion
Retinal patient groups can influence research and genotyping
Type and Rate
Translation into patient services and hopefully treatments
NEED:
Build capacity at a Genetic laboratory
Patients
Passion
Energy
Resolve

14. web page: www.rpsa.org.za
THANK YOU
RETINA SOUTH AFRICA
SHARECALL NO:
FAX:
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