Pangea Data and Alexion, a subsidiary of AstraZeneca, have partnered to develop an AI-enabled tool to detect hypophosphatasia in adults. This rare genetic disorder affects bone development and can lead to tooth loss. Mild forms of hypophosphatasia impact one in 6,000 to one in 7,000 people, while severe forms affect one in 100,000 to one in 300,000 newborns annually. The collaboration aims to create the Artificial Intelligence Clinical Data Support System (AI-CDSS), which will analyze electronic health records (EHRs) to accelerate diagnosis. Pangea’s platform currently detects 42 hard-to-diagnose conditions. Once deployed, the hypophosphatasia-focused program is expected to diagnose the condition in just eight to ten minutes, seamlessly integrating into existing EHR systems.
Zoomer Magazine
@Zoomer
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19h About 1.5 million Canadians 40+ have #osteoporosis, a condition that leads to thin, weakened bones & raises the risk of bone fractures & mobility problems. Some foods can top us up with the many nutrients our bodies depend on to maintain bone health. ➙ https://bit.ly/2TadNG6
Health First
@Health_First
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Jun 5 Think osteoporosis is just a women’s issue? Think again!
One in four men over 50 will break a bone due to osteoporosis — yet men are significantly less likely to get screened or treated for low bone density.
Anne Gregg, a physician assistant with Health First, explains why
Genetics in Medicine
@GIMJournal
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Jun 4 Combining review of de novo variants with constrained coding regions (highly conserved regions with few benign variants) raised rare disease diagnostic rates from 71% to 91% in 3,090 trios from the 100K Genomes Project—13 new diagnoses! https://bit.ly/4kR9xGz
@GeneFiddler
MEDICOS MCQS
@medicosmcqs
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Member
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Jun 3 Osteogenesis Imperfecta is a common congenital disorder caused by a mutation in COL1A1 or COL1A2 genes resulting in abnormal collagen cross-linking and overall decrease in type 1 collagen.
Patients present with fragility fractures, scoliosis, hearing loss, & cardiovascular
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