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Giving New Life Through X-linked Hypophosphatemia Research

Giving New Life Through X-linked Hypophosphatemia Research

FromDDx


Giving New Life Through X-linked Hypophosphatemia Research

FromDDx

ratings:
Length:
11 minutes
Released:
May 29, 2024
Format:
Podcast episode

Description

After a lifetime of treating her rare bone disease, X-linked hypophosphatemia, a patient is at the end of her rope. Due to a genetic variation of the X chromosome — specifically the PHEX gene — there’s an imbalance of phosphate levels in her body. Because of its domino effect on bone development and mineralization, the patient is in pain, she’s frustrated, and nothing seems to help. So when a clinical trial opportunity presents itself, Dr. Suzanne Jan de Beur, a professor of medicine and the Chief of Endocrinology and Metabolism at the University of Virginia, is unsure the patient will want to participate. While the decision to participate is surprising, the results of the clinical trial are astonishing.
Released:
May 29, 2024
Format:
Podcast episode

Titles in the series (63)

A podcast about how doctors think. Presented by Figure 1, the knowledge-sharing app for healthcare. Learn more at figure1.com/DDx