September 3, 2020
Porphyria Post
We are excited for the upcoming APF educational sessions via Zoom "Heme Basics with Dr. Phillips".
Join us on
Thursday, September 10, 2020 at 7:00PM ET, for this Virtual Event via Zoom.
Porphyria researcher and expert, Dr. John Phillips (University of Utah), will join us to present on Heme Basics - helping patients (in layman terms) understand the scientific basics of porphyria and the heme biosynthetic pathway.
Email Edrin Williams, Director of Patient Services, at to request the registration link!

Next up:
Nutrition and the Acute Porphyrias with Dr. Bonkovsky
Mark your calendars for OCTOBER 7, 2020
RSVP - Send me the link to register to Nutrition and the Acute Porphyrias!
Porphyrias Consortium
Longitudinal Study
Participants are Needed Across All Porphyrias
The NIH-supported Porphyrias Consortium (PC) consists of six Porphyria Centers and seven Porphyria Satellite Centers across the USA.  One of the CRITICAL studies that the PC implements is the Longitudinal Study (LS).  The LS is an observational study that seeks to learn more about the natural history in patients with acute and cutaneous porphyria. You can find detailed information here:

Have you already participated in the Longitudinal Study? If so, it may be time to update your information with the research coordinator at your participating site. 
If not,
All porphyria patients (adults and children) with a confirmed diagnosis are eligible and encouraged to participate. Please contact Edrin Williams via email at or via phone at 301-312-8741 to contact the study coordinator at the participating location nearest you. 

New Porphyria Publication
A publication by Dr. Amy Dickey and other esteemed porphyria experts, "Evidence in the UK Biobank for the Underdiagnosis of Erythropoietic Protoporphyria," has been published in the Genetics in Medicine Journal. 

Purpose: Erythropoietic Protoporphyria (EPP), characterized by painful cutaneous photosensitivity, results from pathogenic variants in ferrochelatase (FECH). For 96% of patients, EPP results from coinheriting a rare pathogenic variant in trans of a common hypomorphic variant c.315-48T>C (minor allele frequency 0.05). The estimated prevalence of EPP derived from the number of diagnosed individuals in Europe is 0.00092%, but this may be conservative due to underdiagnosis. No study has estimated EPP prevalence using large genetic data sets.

Virtual Patient Education and Support Meeting with Dr. Sioban Keel
Zoom - EDT

10/26/20 8:30pm - 10/26/20 9:30pm

Join us for our third virtual patient education meeting with Porphyria Exert,
Dr. Sioban Keel
October 26, 2020 8:30 PM ET / 5:30 PM PT
Please Send Me the Link to RSVP
Sorry, I can't make it
Labor Day APF Office Closure
The APF Office will be closed on Monday, September 7, 2020 in observance of Labor Day.
Have a safe and happy holiday!
Contact Information

Is your contact information up to date?
If not please give us a call @ 866-APF-3635 or Email to
Get Involved * Stay Safe
American Porphyria Foundation| 1.866.APF.3635 |
"Remember....Research is the Key to Your Cure!"