Using AI to Streamline Rare Disease Diagnosis

It can take years for patients with rare diseases to get a proper diagnosis, often worsening their condition in the process. Artificial Intelligence (AI) may represent a way to help streamline proper diagnoses of rare diseases, improving patient outcomes in the process. In a new pharmaphorum article by Dr. Peter Fish, learn more about how Mendelian’s Mendelscan technology can aid in diagnosis.

According to Fish, “Last year, five possible cases of X-Linked Hypophosphatemia (XLH) were identified via MendelScan technology and all of these cases were moved forward by clinical reviewers. This is a highly encouraging metric, given that early intervention in XLH has a significant positive impact on patient outcomes. ”

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(Source: pharmaphorum, March 20^th, 2023)