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Large scale causal modeling to identify adults at risk for combined and common variable immunodeficiencies

Large scale causal modeling to identify adults at risk for combined and common variable immunodeficiencies

June 14, 2025June 15, 2025
A scoping review and evidence gap analysis of clinical AI fairness

A scoping review and evidence gap analysis of clinical AI fairness

June 14, 2025June 14, 2025
A scoping review of self-supervised representation learning for clinical decision making using EHR categorical data

A scoping review of self-supervised representation learning for clinical decision making using EHR categorical data

June 14, 2025June 14, 2025
Mobile application leads to psychological improvement and correlated neuroimmune function change in subjective cognitive decline

Mobile application leads to psychological improvement and correlated neuroimmune function change in subjective cognitive decline

June 14, 2025June 14, 2025
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Tag: rare diseases

Exclusive: Pangaea Data, AstraZeneca's Alexion partner to spot rare disease with EHRs

Exclusive: Pangaea Data, AstraZeneca’s Alexion partner to spot rare disease with EHRs

June 9, 2025June 9, 2025MobiHealthNews

Pangaea Data, a company focused on detecting hard-to-diagnose diseases in patients, is partnering with Alexion, a subsidiary of AstraZeneca focused on treating rare diseases, to co-develop, clinically validate and ultimately seek regulatory approval for an…

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Exclusive: Pangea Data, AstraZeneca's Alexion partner to spot rare disease with EHRs

Exclusive: Pangea Data, AstraZeneca’s Alexion partner to spot rare disease with EHRs

June 9, 2025June 9, 2025MobiHealthNews

Pangea Data, a company focused on detecting rare diseases in patients, is partnering with Alexion, a subsidiary of AstraZeneca focused on treating rare diseases, to co-develop, clinically validate and ultimately seek regulatory approval for…

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Orphan Drugs Reshape Pharmaceutical Market

Orphan Drugs Reshape Pharmaceutical Market

April 4, 2025DistilINFO Hospital IT

The Evolving Orphan Drug Landscape
Once considered specialized treatments for rare conditions, orphan drugs are now challenging the dominance of mainstream medications in the pharmaceutical industry. According to two recent Evaluate reports—”Are Orphans That Different?”…

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A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs

A phenotype-based AI pipeline outperforms human experts in differentially diagnosing rare diseases using EHRs

January 28, 2025January 29, 2025npj Digital Medicine

Rare diseases, affecting ~350 million people worldwide, pose significant challenges in clinical diagnosis due to the lack of experienced physicians and the complexity of differentiating between numerous rare diseases. To address these challenges, we…

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Korea starts recruiting for 1 billion bio data project

Korea starts recruiting for 1 billion bio data project

December 30, 2024December 30, 2024Healthcare IT news

Korea officially launches big bio data projectThe South Korean government has started recruiting participants for the National Integrated Bio Big Data Construction Project.
The ambitious 606 billion won (over $400 million) project is Korea’s largest healthcare project…

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Direct-to-patient platform uses AI to find gaps in care

Direct-to-patient platform uses AI to find gaps in care

December 13, 2024December 13, 2024Healthcare IT news

Unite Genomics announced a new clinical listening partnership with a “Top 10 pharma company” that can personalize and tailor patient psoriasis care insights based on their medical records on Monday.This direct-to-consumer platform uses artificial…

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Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders

November 22, 2024November 22, 2024npj Digital Medicine

Patients with rare diseases often experience prolonged diagnostic delays. Ordering appropriate genetic tests is crucial yet challenging, especially for general pediatricians without genetic expertise. Recent American College of Medical Genetics (ACMG) guidelines embrace early…

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Citizen Health secures $14.5M in seed funding for rare disease drug development

Citizen Health secures $14.5M in seed funding for rare disease drug development

November 20, 2024November 20, 2024MobiHealthNews

Citizen Health, a company that helps patients oversee rare and complex health conditions, announced it raised $14.5 million in seed funding.Transformation Capital led the round with participation from Wavemaker 360 and prominent angel investors. 
The…

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Citizen Health Secures $14.5M for AI Platform for Rare Diseases

Citizen Health Secures $14.5M for AI Platform for Rare Diseases

November 19, 2024November 20, 2024HIT Consultant

What You Should Know:

– Citizen Health, an innovative AI-powered consumer health platform designed to support over 400 million individuals managing rare and complex conditions, has announced the successful closing of a $14.5 million seed round. 

–  The…

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Enabling data linkages for rare diseases in a resilient environment with the SERDIF framework

Enabling data linkages for rare diseases in a resilient environment with the SERDIF framework

October 4, 2024October 5, 2024npj Digital Medicine

Environmental factors amplified by climate change contribute significantly to the global burden of disease, disproportionately impacting vulnerable populations, such as individuals with rare diseases. Researchers require innovative, dynamic data linkage methods to enable the…

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