Heme Biosynthesis and the Porphyrias 2020:

Consensus Diagnoses, Variant Disorders, New & Emerging Therapies

October 11-13, 2020
Hyatt Regency Schaumburg Near Chicago O'Hare Airport

Heme Biosynthesis & the Porphyrias: 2020 Program

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Sunday, October 11, 2020

Session 1- Heme Biosynthesis and Recent Advances
Chairs: H. Dailey, PhD & S. Rudnick, MD
1:00 pm Welcome
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
1:10 pm Heme Biosynthesis & Degradation: Overview & Latest Advances
J.D. Phillips, PhD, University of Utah, Salt Lake City
1:50 pm Structure-Based Drug Design to Aminolevulinate Synthase 2
Wyatt Yue, PhD, University of Oxford, UK
2:20 pm Regulation of Erythroid Heme Biosynthesis by Mitochondrial CLPX
Y. Yien, PhD, University of Delaware, Newark
2:50 pm Exploring the Complex(ity) of Heme Biosynthesis & Distribution
A. Medlock, PhD, University of Georgia, Athens
3:20 pm Break
3:40 pm Heme Biosynthesis: Single Cell Hepatocyte Studies
Bruce Wang, MD, University of California at San Francisco, San Francisco
4:10 pm Continuous Lessons from Porphyria Mouse Models
Makiko Yasuda, MD, PhD, Icahn School of Medicine at Mount Sinai, New York
4:40 pm Itaconate as a Regulator of Erythroid Heme Biosynthesis During Inflammation
J. Marcero, PhD, University of Georgia, Athens
5:10 pm Intracellular Heme Dynamics in Adipocytes
Enrique Saez, PhD, Scripps Research, La Jolla
5:40 pm Adjourn
6:30 pm Reception
7:00 pm Dinner
Talk Tables for Mentorship

 

Monday, October 12, 2020

7:30 am Breakfast—Talk Tables for Mentorship
Session 2- Acute Hepatic Porphyrias
Chairs: J-C Deybach, MD, PhD, MD & H. Naik, PhD
8:30 am Introduction to the Porphyrias
K.E. Anderson, MD, University of Texas Medical Branch, Galveston
9:00 am Porphyria Genetics & Genomics
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
9:40 am Porphyria Diagnoses-International Guidelines & Harmonization
J-C Deybach, MD, PhD, Paris Diderot University, Paris; R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
10:20 am Break
10:35 am The Acute Hepatic Porphyrias (AHPs) and Variants: Pathogenesis & Clinical Manifestations
E. Sardh, MD, PhD, Karolinska Institutet, Stockholm
11:10 am AHPs: Neurologic Involvement
E. Pischik, MD, PhD, Consultative and Diagnostic Center with Polyclinics St. Petersburg
11:45 am AHPs: Current Management & Treatment
S. Keel, MD, University of Washington, Seattle
12:15 pm AIP Patient Interview and Discussion
K.E. Anderson, MD, University of Texas Medical Branch, Galveston; J-C Deybach, MD, PhD, Parie Diderot University, Paris
12:45 pm Lunch
Talk Tables for Mentorship
Session 3 - Porphyria Cutanea Tarda
Chairs: M. Thapar, MD & S. Beaven, MD, PhD
1:45 pm Porphyria Cutanea Tarda, Variants, & Current Treatment
J.D. Phillips, PhD, University of Utah, Salt Lake City
2:15 pm PCT Patient Interview and Discussion
K.E. Anderson, MD, University of Texas Medical Branch, Galveston
2:45 pm Break
Session 4- Erythropoietic Protoporphyrias
Chairs: M. Balwani, MD, MS & A. Dickey, MD
3:00 pm Congenital Erythropoietic Porphyria (CEP) & Current Treatment
A. Erwin, MD, PhD, Cleveland Clinic, Cleveland
3:30 pm CEP Patient Interview & Discussion
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, NY; A. Erwin, MD, PhD, Cleveland Clinic, Cleveland
4:00 pm Erythropoietic Protoporphyria (EPP) & X-Linked Protoporphyria (XLP), Variants, & Current Management
M. Balwani, MD, MS, Icahn School of Medicine at Mount Sinai, New York
4:30 pm EPP/XLP Patient Interview and Discussion
M. Balwani, MD, MS, Icahn School of Medicine at Mount Sinai, New York; Amy Dickey, MD, Massachusetts General Hospital, Boston
5:00 pm Discussion: Clinical Issues & Future Directions
All Speakers
5:30 pm Adjourn
7:00 pm Dinner
Talk Tables for Mentorship

 

Tuesday, October 13, 2020

8:00 am Breakfast
Talk Tables for Mentorship
Session 5- Emerging Treatments
Chairs: B. McGuire, MD & J. Quigley, MD
9:00 am Introduction and Overview
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
9:30 am Ciclopirox for CEP
Oscar Millet, PhD, CICbioGUNE and Atlas Molecular Pharmaceuticals, Bilbao and Madrid, Spain
10:10 am Emerging Treatments fo EPP
J-C Deybach, MD, PhD, Paris Diderot University, Paris
10:50 am Break
11:10 am Gene Therapy for the Porphyrias
A. Fontanellas, PhD, Center for Applied Medical Research (CIMA), University of Navarra, Pamplona, Spain
11:50 am Discussion
Moderator: R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
12:00 pm Lunch
Talk Tables for Mentorship
Session 6- Porphyria Biochemical & Molecular Laboratory Tests: Methods & Harmonization
Chairs: K.E. Anderson, MD, R.J. Desnick, PhD, MD, & R. Nussbaum, MD
1:00 pm AHPs: First Line Porphyrin Precursor Testing
E. Sardh, MD, PhD, Karolinska Institutet, Stockholm
1:45 pm The International Porphyrias Molecular Diagnostic Database
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
2:30 pm Erythropoietic Porphyrias: Laboratory Testing
K.E. Anderson, MD, University of Texas Medical Branch, Galveston
3:15 pm Discussion: The Need for US/International Laboratory Harmonization & a Consensus Document
R.J. Desnick, PhD, MD (Discussion Leader); All Session Speakers & Diagnostic Laboratory Attendees
4:00 pm Summary
R.J. Desnick, PhD, MD, Icahn School of Medicine at Mount Sinai, New York
4:15 pm Adjourn

 

Sunday, October 11, 2020

Concurrent Patient Session
Chairs: K. Wheeden, MBA & D. Lyon
9:15 am Registration and Coffee
10:00 am Welcome & Program Overview
K. Wheeden, American Porphyria Foundation
10:15 am APF and International Porphyria Advocacy
D. Lyon, American Porphyria Foundation
10:45 am Heme Biosynthesis & the Porphyrias 101
S. Keel, MD, University of Washington, Seattle
11:15 am Acute Hepatic Porphyrias: What Every Patient Should Know
K.E. Anderson, MD, University of Texas Medical Branch, Galveston; J-C Deybach, MD, PhD, Paris Diderot University, Paris, France
11:45 am Porphyria Cutanea Tarda: What Every Patient Should Know
K.E. Anderson, MD, University of Texas Medical Branch, Galveston; J.D. Phillips, PhD, University of Utah, Salt Lake City
12:05 pm Erythropoietic Protoporphyria: What Every Patient Should Know
M. Balwani, MD, MS, Icahn School of Medicine at Mount Sinai, New York; A. Dickey, MD, Massachusetts General Hospital, Boston
12:30 pm Lunch
1:30 pm Psychosocial Studies of the Porphyrias
H. Naik, PhD, Icahn School of Medicine at Mount Sinai, New York
2:00 pm Current and Emerging Therapies
J-C Deybach, MD, PhD, Paris Diderot University, Paris
2:30 pm Ask the Experts Panel
Moderated by M. Mazepa, MD, University of Minnesota
K.E. Anderson, MD; M. Balwani, MD, MS; J-C Deybach, MD, PhD; M. Kazamel, MD; E. Pischik, MD, PhD; E. Sardh, MD, PhD
3:00 pm Summation & Closing Remarks
K. Wheeden, MBA; D. Lyon, American Porphyria Foundation