Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

Congress

Reem Mustafa
Reem Mustafa

Reem Mustafa

Dr. Mustafa is a Professor of Internal Medicine, Division of Nephrology and Hypertension at the University of Kansas and she is the Director of the Outcomes and Implementation Research Unit. Dr. Mustafa’s research interest focuses on the application of principles of evidence-based medicine in clinical and public health decision-making. She also studies the effect of these principles on clinical and patient-important outcomes. Dr. Mustafa has extensive experience in the development and assessment of clinical practice guidelines through her work with The Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group and she serves on the GRADE Guidance Group (GRADE executive committee). She has been involved with multiple guideline development groups internationally through the World Health Organization (WHO), the American Society of Hematology (ASH), American College of Physicians (ACP) among others.

Penny Stein

UK

Yonatan Edel

Israel

John Phillips
John Phillips

John Phillips

Dr. John Phillips has been working in the heme biosynthesis field at the University of Utah School of Medicine for the past 30 years. The primary focus of the laboratory is biochemical analysis of the proteins of heme biosynthesis, including regulation of expression, metabolic interactions and structure function studies.

Iqbal Hamza

USA

 

Makiko Yasuda
Makiko Yasuda

Makiko Yasuda

Makiko Yasuda is an Assistant Professor in the Department of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (ISMMS) in New York City. She received her MD degree from Tokyo Women’s Medical University, where she also completed her pediatrics residency and later earned her PhD in Molecular Biology. Since joining the ISMMS faculty in 2008, her main area of research has been the acute hepatic porphyrias (AHPs) with focus on delineating disease pathogenesis and developing novel therapeutic approaches. Currently, her team is also actively pursuing fundamental research on heme homeostatic pathways in the liver.

Antoine Poli
Antoine Poli

Antoine Poli

Antoine Poli, MD, PhD candidate

Geneticist, consultant in the French reference center for porphyria patients

Jordi To-Figueras
Jordi To-Figueras

Jordi To-Figueras

Dr. Jordi To-Figueras is a clinical biochemist in the Hospital Clinic of Barcelona and full professor of Biochemical Toxicology at the Faculty of Medicine of the University of Barcelona.

Since 2001, he runs a comprehensive diagnostic laboratory for the porphyrias attached to the clinic of the hospital. He is member of EPNET since its inception and participated in the elaboration of diagnostic protocols and quality control schemes. He is responsible for the laboratory external quality control for porphyria diagnosis (EQAS) thus Barcelona being credited as a porphyria specialist centre. “To-Figueras” show ~44 items in PubMed devoted to porphyria.

Antonio Fontanellas
Antonio Fontanellas

Antonio Fontanellas

Antonio Fontanellas (Biochem Mol Biol BSc ´89, Statistics MSc ´92, PhD ´94). Dr. Fontanellas was awarded with a Certificate of Merit from the Spanish Royal Academy of Medicine (1995) for his PhD Thesis. In 2018 he received a career recognition award from AELMHU, the Spanish Association of biotech and pharma industries supporting research in rare and ultrarare diseases. He has more than 32 years of experience working in porphyrias, exploring the pathophysiological mechanisms of the diseases, and developing new therapies in clinically relevant animal models. His research has been published in top journals (>80 publications, >50 in Q1, >35 as first or senior author) and book chapters. He has co-developed and patented three products based on innovative therapies, that have been licensed to biotech industry partners. He participated in the development of the first Phase I open label AAV-based gene therapy clinical trial for acute intermittent porphyria.

Daphne Vassiliou
Daphne Vassiliou

Daphne Vassiliou

 Daphne Vassiliou is a consultant at the Department of Endocrinology and the Swedish Porphyria Centre at the Karolinska University Hospital in Stockholm.

She has been part of the specialist team treating porphyria patients for over a decade, and has been involved in the process of establishing national treatment guidelines.

Janneke Langendonk

The Netherlands

 

Kirstine Belongie
Kirstine Belongie

Kirstine Belongie

Dr Kirstine Juhl Belongie is a senior director, medical Science at Mitsubishi Tanabe Pharma Group where she is currently the global clinical team leader for the clinical development of dersimelagon for patients with EPP/XLP among other diseases. She has worked at Janssen, Merck, and Novo Nordisk spanning projects from early-stage discovery to early clinical research in metabolic diseases. She received her university degrees and training at Copenhagen, Colorado health sciences center, and Harvard universities.

Will Savage
Will Savage

Will Savage

Will Savage is the Chief Medical Officer of Disc Medicine, a biotech company focusing on fundamental red blood cell targets that potentially could have meaningful impact for patients. Dr. Savage is a pediatric hematologist and transfusion medicine physician who trained at Johns Hopkins, and he also has a PhD in clinical investigation. After serving as faculty at Johns Hopkins and Harvard medical schools, Dr. Savage spent the last 5 years in hematology drug development.

Amy Dickey
Amy Dickey

Amy Dickey

Dr. Amy Dickey is a physician at Massachusetts General Hospital (MGH) and Instructor of Medicine at Harvard Medical School (HMS) engaged in clinical and translational porphyria research. Having a diagnosis of erythropoietic protoporphyria (EPP) herself, she is the co-founder and co-director of the MGH Porphyria Center. Amy is carrying out investigations to improve clinical trial endpoints in EPP and to better understand the reasons for differences in light sensitivity between EPP patients. She is also leading a Porphyrias Consortium study that is investigates the effect of oral cimetidine for the protoporphyrias.

Robert Sarkany
Robert Sarkany

Robert Sarkany

Dr. Sarkany is a Consultant Dermatologist and the Head of the Cutaneous Porphyria Clinic at St. John's Institute of Dermatology in London. He became involved with porphyria when he studied the genetics of EPP in the 1990s and has since developed a clinical interest in the clinical management of the cutaneous porphyrias, and looks after one of the largest cohorts of cutaneous porphyria patients in the world.

 Aasne Aarsand
Aasne Aarsand

Aasne Aarsand

Aasne K. Aarsand MD PhD is Director of the Norwegian Porphyria Centre (NAPOS) and a consultant medical biochemist at the Department of Medical Biochemistry and Pharmacology, Haukeland University Hospital and the Norwegian Organization for Quality Improvement of Laboratory Examinations (NOKLUS). Her main areas of expertise and research interests include the porphyrias, biological variation and its applications and harmonization of the total testing process.

She is director of the European Porphyria Network External Quality Assessment Scheme, chair of the European Porphyria Network Laboratory Working Group and manager of the European Porphyria Registry. She is also chair of the European Federation of Clinical Chemistry and Laboratory Medicine Working Group on Biological Variation.

Sharon Whatley
Sharon Whatley

Sharon Whatley

Sharon Whatley is a clinical scientist at the University Hospital of Wales in Cardiff in Wales. She is interested in the pathophysiology of the porphyrias. She has worked both in research and biochemical and molecular diagnostics. In collaboration with colleagues she has published peer reviewed research papers and book chapters and has been an invited speaker at many international conferences.

Mike Badminton
Mike Badminton

Mike Badminton

Mike Badminton was Clinical Lead for the National Acute Porphyria Service Cardiff centre, and Director of the Cardiff SAS Porphyria Service laboratories until retiring at the end of 2021.

He has been involved in the diagnosis and management of all types of porphyria since 2001 and his research interests include the erythropoietic porphyrias, and more recently identifying modifier genes in acute porphyria.

He is a founder member of the European Porphyria Network, which was established to improve healthcare for porphyria patients and their families. He is involved in a number of international collaborative projects aimed at supporting other clinicians diagnosing and managing porphyria through sharing diagnostic information and developing consensus guidelines.  

Staffan Wahlin
Staffan Wahlin

Staffan Wahlin

Dr. Staffan Wahlin is a senior clinical hepatologist in the Karolinska University Hospital and an associate professor in the Karolinska Institutet, Stockholm, Sweden. His main areas of research are autoimmune liver diseases and porphyria. His porphyria research is focused on the clinical management, hepatic complications, and transplantation in EPP and AIP. Staffan is affiliated with the Swedish Porphyria Centre and is a member of the EPNET cutaneous porphyria working group.

Paul Wilson

 

 

 

ICPP 2022

ICPP 2022

Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

ICPP 2022

ICPP 2022

Thinking Porphyria, Working Together

International Congress on
Porphyrins and Porphyrias

4-7 September 2022
Sofia, Bulgaria

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