Heme Biosynthesis and the Porphyrias 2021:

Consensus Diagnoses, Variant Disorders, New & Emerging Therapies

October 15-17, 2021
Hyatt Regency Schaumburg Near Chicago O'Hare Airport

Agenda

Printable Symposium Agenda

Thursday October 14, 2021

8:00 pm Faculty Dinner

Friday October 15, 2021

Session 1 - Introduction to Heme Biosynthesis and the Porphyrias
Chair: Robert J. Desnick, PhD, MD
1:00 pm Welcome and Symposium Overview
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
Kristen Wheeden, MBA, American Porphyria Foundation, Bethesda
Sverre Sandberg, MD, PhD, University of Bergen, Bergen, Norway
1:15 pm Heme Biosynthesis: Overview and Latest Advances
John D. Phillips, PhD, University of Utah, Salt Lake City
1:45 pm Overview of the Hepatic and Erythropoietic Porphyrias
Bruce Wang, M.D, University of California, San Francisco
2:15 pm Porphyria Genetics, Genomics and Modifying Genes
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
2:50 pm Porphyria Diagnostics: First- and Second-line Testing
Karl Anderson, MD, University of Texas Medical Branch, Galveston
3:25 pm Break and Poster Viewing
Session 2 – Acute Hepatic Porphyrias (AHPs)
Chairs: Karl Anderson, MD and Hetanshi Naik, PhD
3:40 pm Acute Hepatic Porphyrias (AHP): Pathogenesis and Manifestations
Eliane Sardh MD, PhD, Karolinska Institute, Stockholm
4:15 pm AHPs – Neurologic Involvement
Elena Pischik, MD, PhD, Consultative and Diagnostic Center with Polyclinics, St. Petersburg
4:50 pm AHPs: Current Management & Treatment
Herbert Bonkovsky, MD, Wake Forest Baptist Medical Center, Winston-Salem
5:25 pm Acute Intermittent Porphyria (AIP) Patient Interview
Sioban Keel, MD, University of Washington, Seattle
5:45 pm ALAD Deficient Porphyria-
Karl Anderson, MD, University of Texas Medical Branch, Galveston
6:15 pm Adjourn
7:00 pm Reception and Attended Poster Session
Moderated by Bruce Wang, M.D, University of California, San Francisco
8:00 pm Dinner—Talk Tables for Mentorship and Networking

Saturday October 16, 2021

7:00 am Breakfast—Talk Tables for Mentorship and Networking
Session 3 - Heme Biosynthesis: Recent Research
Chair: John Phillips, PhD
8:00 am Regulation of Heme Synthesis During Erythropoiesis by the Immunometabolite Itaconate
Harry Dailey, PhD, University of Georgia, Athens
8:35 am Structure-Based Drug Design to Aminolevulinate Synthase 2
Wyatt Yue, PhD, University of New Castle, New Castle UK
9:10 am ALAD Is an Iron Sulfur Cluster Enzyme
Tracey A. Rouault, MD, NIH Division of Intramural Research Program, Bethesda
9:45 am Heme Biosynthesis: Single Cell Hepatocyte Studies
Bruce Wang, MD, University of California at San Francisco, San Francisco
10:20 am Break and Poster Viewing
Chair: John Quigley, MD
10:35 am Exploring the Complex(ity) of Heme Biosynthesis & Distribution
Amy Medlock, PhD, University of Georgia, Athens
11:10 am Heme Tolerance and Metabolism
Iqbal Hamza, PhD, University of Maryland, College Park
11:45 am Investigation of Hepatic Heme Homeostasis Using an Inducible Hepatocyte-Specific Alas1 Knockout Mouse
Makiko Yasuda, MD, PhD, Icahn School of Medicine at Mount Sinai, NYC
12:20 am Intracellular Heme Dynamics in Adipocytes
Enrique Saez, PhD, Scripps Research, La Jolla
12:55 pm Lunch—Talk Tables for Mentorship and Networking
Session 4 - Porphyria Cutanea Tarda (PCT)
Chairs: Herbert Bonkovsky, MD and Manish Thapar, MD
1:45 pm Porphyria Cutanea Tarda (PCT): Variants & Current Treatment
John Phillips, PhD, University of Utah, Salt Lake City
2:20 pm Porphyria Cutanea Tarda (PCT) Patient Interview and Discussion
Herbert Bonkovsky, MD, Wake Forest Baptist Medical Center, Winston-Salem
2:40 pm Break and Poster Viewing
Session 5 - Erythropoietic Porphyrias
Chair: Manisha Balwani, MD, MS
3:00 pm Congenital Erythropoietic Porphyria (CEP): Manifestations & Current Treatment
Angelika Erwin, MD, PhD, Cleveland Clinic, Cleveland
3:35 pm CEP Patient Interview
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
3:55 pm Erythropoietic Protoporphyria (EPP) & X-Linked Protoporphyria (XLP): Variants & Current Treatment
Manisha Balwani, MD, MS, Icahn School of Medicine at Mount Sinai, NYC
4:30 pm EPP/XLP Patient Interview
Cynthia Levy, MD, University of Miami, Miami
4:50 pm EPP: A Physician-Patient’s Perspective and Patient Survey
Amy Dickey, MD, Massachusetts General Hospital, Boston
5:10 pm EPP: Late Breaking Research
Janneke Langendonk, MD, PhD, Erasmus Medical Center, Rotterdam, Netherlands
5:30 pm Mechanism of Phototoxicity and the Erythropoietic Porphyrias
Bishr Omary, MD, PhD, Rutgers Biomedical and Health Sciences, Piscataway
5:50 pm Adjourn
7:00 pm Reception and Attended Poster Session
Moderated by Brendan McGuire, MD, University of Alabama, Birmingham
8:00 pm Dinner

Sunday October 17, 2021

7:30 am Breakfast—Talk Tables for Mentorship and Networking
Session 6 - Emerging Treatments
Chair: Bruce Wang, MD
8:30 am Enzyme and Gene Therapy for Acute Intermittent Porphyria
Antonio Fontanellas, PhD, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona
9:10 am Ciclopirox for CEP
Oscar Millet, PhD, CICbioGUNE and Atlas Molecular Pharmaceuticals, Bilbao and Madrid
9:50 am Emerging Treatments for Erythropoietic Protoporphyria
J.C Deybach, MD, PhD, Paris Diderof University, Paris
10:30 am Break and Poster Viewing
10:45 am Preclinical Studies on the Role of ABCG2 in Erythropoietic Protoporphyria
Xiaochao Ma, PhD, University of Pittsburgh, Pittsburgh
11:25 am Selected Poster Presentations
12:00 pm Adjourn
12:00 pm Lunch — Talk Tables for Networking and Mentoring
Session 7- Porphyria Biochemical and Molecular Diagnostics
Chairs: Karl Anderson, MD and Robert J. Desnick, PhD, MD
1:00 pm Porphyria Diagnostics: Overview, Issues, and Harmonization
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
1:15 pm Improving Porphyria Diagnostics: Pre-analytical, Analytical and Post-analytical Aspects
Sverre Sandberg, MD, PhD, University of Bergen, Bergen, Norway
1:45 pm Diagnosis of PCT and Erythropoietic Porphyria
Karl E. Anderson, MD, University of Texas Medical Branch, Galveston
2:00 pm Diagnostic Guidelines and International Molecular Database
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
2:30 pm Need for Harmonization in Diagnostic Testing and Reporting
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC
Karl E. Anderson, MD, University of Texas Medical Branch, Galveston
3:00 pm Closing Remarks
Robert J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NYC

Sunday October 17, 2021

Session 8: Concurrent Patient Meeting
Chairs: Charles Parker, MD
10:00 am Welcome and American Porphyria Foundation (APF) Update
Kristen Wheeden, American Porphyria Foundation, Executive Director
10:05 am APF Goes Global
Desiree Lyon, American Porphyria Foundation, Global Director
10:15 am

Overview and What’s New in the Porphyrias
Diagnosis, management, and treatment

Guidelines and Long-Term Follow-Up for all Porphyrias
Manisha Balwani, MD, MS, Icahn School of Medicine at Mount Sinai, NYC

AHP
Sioban Keel, MD, University of Washington, Seattle

PCT
Karl Anderson, MD, University of Texas Medical Branch, Galveston

EPP/XLP
Cynthia Levy, MD, University of Miami, Miami

CEP
Angelika Erwin, MD, PhD, Cleveland Clinic, Cleveland

11:30 am Emerging Treatments in the Porphyrias
Discussion about new and potential treatments in the porphyrias
Bruce Wang, M.D, University of California, San Francisco
12:00 pm Research Is the Key to Your Cure!
Current research and how to get involved
Karli Hedstrom, MPH, Icahn School of Medicine at Mount Sinai, NYC
12:15 pm

Pain in the Porphyrias
Explain and discuss pain in the Acute (Hepatic) and Cutaneous (Erythropoietic) Porphyrias
Mohamed Kazamel, MD, University of Alabama, Birmingham

12:45 pm

Lunch

Chairs: Sean Rudnick, MD and Charles Parker, MD
1:15 pm Quality of Life and Psychosocial Issues
Issues and impact beyond the physical symptoms
Hetanshi Naik, PhD, Icahn School of Medicine at Mount Sinai, NYC
1:45 pm Cannabis Use and Alternative Medicines
Results of a patient survey
Hetanshi Naik, PhD, Icahn School of Medicine at Mount Sinai, NYC
2:00 pm Ask the Porphyria Experts Panel
Mohamed Kazamel, MD, Sioban Keel, MD, Marshall Mazepa, MD and Brendan McGuire, MD
2:45 pm Get Involved – what you can do as a rare disease patient
Highlights of ways to be involved in education, awareness, advocacy and support programs
Kristen Wheeden, Executive Director, APF
3:00 pm Adjourn

 

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