From Molecules to Medicine: The Science of Porphyria 🧬

Описание: Why does porphyria cause such a wide range of symptoms? What happens at the molecular level?
In this webinar, porphyria expert Dr. John Phillips breaks down the science behind porphyria in a clear, patient-friendly way. From the heme biosynthetic pathway to how these rare diseases affect the body—this is your chance to learn directly from the experts.

💡 Whether you're newly diagnosed or have lived with porphyria for years, this session is packed with valuable insights.

📌 Watch now and share with someone who wants to better understand porphyria from the inside out.

00:00 Welcome and Introductions
02:35 Understanding heme biosynthesis and its relationship to porphyria
12:25 Why does urine turn purple in AIP?
15:15 Is it possible to have a sensor to detect porphyria in emergency rooms?
18:58 Which substance in the pathway is most reactive?
21:55 If you can't process heme properly would that mean your body is always trying to make more heme?
26:23 Mitochondria and porphyria
30:15 Why are there different tests for different types of porphyria?
35:57 EPP testing- blood or feces test better?
38:52 Do higher protoporphyrin levels make you more sun sensitive?
41:14 Do porphyria patients have enough heme?
47:00 If a treatment slows the uptake of glycine would it work for other types of porphyria?
48:45 Why are symptoms so different for different types of cutaneous porphyria?

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