Heme Basics Zoom Meeting!; Porphyrias Consortium Longitudinal Study Participants Needed!; New Porphyria Publication; Virtual Patient Meeting

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 [email protected] 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!

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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: https://www.rarediseasesnetwork.org/cms/porphyrias/7201

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 [email protected] or via phone at 301-312-8741 to contact the study coordinator at the participating location nearest you.

“REMEMBER…RESEARCH IS THE KEY TO YOUR CURE!”

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.

Click on the link below to read the entire article