A one-day symposium organised by the RCPAQAP/AACB Porphyrins Advisory Committee, supported by experienced clinicians and patients.

Target audience:

Clinicians from all backgrounds who may potentially encounter cases, laboratory scientists and Pathologists involved in diagnostic testing, patients and anybody with an interest in knowing more about Porphyria.

Areas to be covered:

General background and clinical situations where it is important to think about Porphyria. Also diagnostic testing, including genotyping, quality assurance and where assay developments are occurring. Both patient and clinician perspectives on management and challenges faced, together with insight into new treatment advances.

Expected outcomes:

To understand the patho-physiology of Porphyria and know when to suspect it.

To know how to exclude porphyria in an acute situation and how to proceed with diagnostic testing when a case is suspected. To have a greater understanding of all perspectives and to promote greater cooperation at the laboratory-clinician interface.

PROGRAM SCHEDULE

09:15 – 09:25 Introduction – Chris Florkowski/Peter Graham

09:25-09:45 Biochemistry of Porphyria- Joel Smith

09:45-10:25 Porphyria Diagnosis and Management, Clinical and laboratory Integration- Gayle Ross/ Virginia Cronin

10:25- 10:40 Q/A Session

10:40 – 11:10 Morning Tea

11:10 – 11:30 Role of Genetics in Porphyria – Jole Bojovic

11:30 – 11:50 RCPAQAP Porphyria cases for comment– Joel Smith

11:50 – 12:05 A challenging case – Chris Florkowski

12:05- 12:10 Q/A Session

12:10 – 13:00 Lunch

13:00 – 13:20 How good are our assays? Feedback from RCPAQAP – Abrar Taif

13:20 – 13:40 Where do our assays need to be? Ongoing developments – Chris Sies

13:40 – 14:00 A patient’s perspective of Porphyria – Brad Pearson

14:00- 15:00 Open Discussion

15:00 – 15:20 Afternoon tea

15:20 – 15:50 A copro-porphyria family. Challenges and progress – Cindy Towns

15:50 – 16:20 TBA

16:20 – 16:30 Open discussion & Conclusion

NETWORKING DRINKS