Development of therapies for rare genetic disorders of GPX4: roadmap and opportunities.

ABSTRACT:

Background

Extremely rare progressive diseases like Sedaghatian-type Spondylometaphyseal Dysplasia (SSMD) can be neonatally lethal and therefore go undiagnosed or are difficult to treat. Recent sequencing efforts have linked this disease to mutations in GPX4, with consequences in the resulting enzyme, glutathione peroxidase 4. This offers potential diagnostic and therapeutic avenues for those suffering from this disease, though the steps toward these treatments is often convoluted, expensive, and time-consuming.

Main body

The CureGPX4 organization was developed to promote awareness of GPX4-related diseases like SSMD, as well as support research that could lead to essential therapeutics for patients. We provide an overview of the 21 published SSMD cases and have compiled addi

SUBMITTER: Cheff DM 

PROVIDER: S-EPMC8542321 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature