Spotlight Porphyria
Welcome to Spotlight Porphyria where we feature all things porphyria! Including:
Porphyria Voices shares experiences, insights, and advice from the porphyria community.
What's UP Doc? Where porphyria experts take your questions.
Summing UP explains the latest research in easy-to-understand summaries
Meet your experts and advocates where we meet the people changing the world for porphyria.
…and more!
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Genetic Testing Results: Variant of Uncertain Significance (VUS) & De Novo
Question: My genetic test for AIP shows a VUS and I was told the variant was de novo- what does this mean?
Porphyrias Consortium
What is the Porphyrias Consortium? Why is it so important? What do they do?

