PLENARY LECTURES

PL1: Mitochondrial Iron and Heme Metabolism in Red Cells
Barry PAW (USA)

PL2 : Cellular transport, trafficking, and recycling of heme
Iqbal HAMZA (USA)

PL3 : Acute Intermittent Porphyria,  update 2017

Robert J. DESNICK (USA)

PL4 : Phase 1, Randomized, Placebo Controlled Study of Givosiran, an Investigational RNA Interference (RNAi) Therapeutic, in Patients with Acute Intermittent Porphyria: Interim Study Results
Eliane SARDH (Sweden) (for EU/USA Porphyria Reference Centers)

PL5 : Variegate porphyria – a consideration of the pathology, diagnosis and treatment – based on the South African experience
Peter MEISSNER (SA)

PL6 : Clinical aspects, pathophysiology and management of PCT
Jorge FRANK (Germany)

PL7 : Pharmacological chaperones as a potential therapy for congenital erythropoietic porphyria
Oscar MILLET (SP)

PL8 : Tailored oligonucleotide therapy for treatment of erythropoietic protoporphyria
François HALLOY (Switzerland)

PL9 : Afamelanotide for the treatment of protoporphyria-induced phototoxicity, where are we ?
Janneke LANGENDONK (Netherlands)

PL11 : Porphyrias and kidney disease
Nicolas PALLET (France)

PL12 : Porphyria associated liver disease
Staffan WAHLIN (Sweden)

PL13 : The value of long term longitudinal clinical and laboratory observations in porphyria follow up
Karl ANDERSON (USA)

PL14 : Measurement of therapeutic effect in the porphyrias: Balancing the needs of professionals, patients and the pharmaceutical industry
Elisabeth MINDER (Switzerland)

PL15 : Diagnosing and monitoring porphyrias : benefits and disadvantages of centralizing porphyria dedicated laboratory tests
Sverre SANDBERG (Norway)

PL16 : EPNET and EMQN EQAS impact on porphyria diagnosis
Sharon WAHTLEY (UK) and Aasne AARSAND (Norway)

PL17 : Gene correction in erythropoietic porphyrias by the CRISPR/Cas9 technology
François MOREAU-GAUDRY (France)

PL18 : Inducing iron deficiency improves erythropoiesis and photosensitivity in CEP
John PHILIPS (USA)

ORAL COMMUNICATIONS

OC1: A study of the Subcellular localization and possible role of Hydroxymethylbilane synthase in the nucleus, using cultured HepG2 cells and liver tissue
Karen TOSKA (Norway)

OC2 : The Effect of Insulin Growth Factor on Delta-Aminolevulinic Synthase Expression
Victoria E PARERA (Argentina)

OC3 : Efficacy of systemic messenger RNA therapy to treat and prevent porphyria attacks in a mouse model of acute intermittent porphyria
Antonio FONTANELLAS (Spain)

OC4 : Acute intermittent porphyria: Molecular and in silico findings towards an oligogenic model with a main impact of environment
Laurent GOUYA (France)

OC5 : A pilot study to identify possible genetic factors associated with acute neurovisceral attacks in patients with Acute Intermittent Porphyria
Sharon WHATLEY (United Kingdom)

OC6 : Direct-acting antivirals for Hepatitis C virus induce a rapid clinical and biochemical remission of Porphyria Cutanea Tarda
Paula AGUILERA (Spain)

OC7 : Porphyria Cutanea Tarda: Profile of 192 patients from the Porphyrias Consortium in the US
Ashwani K SINGAL (USA)

OC8 : 5-Aminolevulinate Dehydratase Porphyria (ADP): Evidence for Hepatic ALAS1 Induction
Karl E ANDERSON (USA)

OC9 : Iron chelation improves haemolytic anemia and skin photosensitivity in a mouse model of congenital erythropoietic porphyria
Jean-Marc BLOUIN (France)

 

OC10 : Erythropoietic Protoporphyria: Disease Severity and Quality of Life
Hetanshi NAIK (USA)

OC11 : Inflammation in acute intermittent porphyria is associated with high visfatin and Interleukin‑17 levels revealed by hierarchical clustering analysis
Elin STORJORD (Norway)

OC12 : The Prevalence of mental health in the porphyria population. An 87 year systematic literature review meta synthesis
Karen NOONAN (Australia)

OC13 : EXPLORE: A Prospective, Multinational Natural History Study of Patients with Acute Hepatic Porphyria (AHP) with Recurrent Attacks
Laurent GOUYA (France)

OC14 : The European Porphyria Registry: Treatment practices for acute attacks in acute intermittent porphyria patients in Europe
Aasne K AARSAND (Norway)

OC15 : Increasing Clinical Specificity and Reducing Analytical Complexity in Urine Porphyrin Analysis by LC-MS/MS
Silvia TORTORELLI (USA)

OC16 : Mouse models and U7-based splicing modulation for Erythropoietic Protoporphyria (EPP)
Paulina CWIEK (Switzerland)

OC17 : Pharmacological Chaperones for the Treatment of Acute Intermittent Porphyria
Helene J BUSTAD (Norway)

POSTERS

The maximum dimension for the posters is L x 100 cm and H x 170 cm