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Monday, June 16, 2025
Monday Morning Update 6/16/25

Monday Morning Update 6/16/25

June 16, 2025June 16, 2025
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
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Tag: rare disease

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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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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Ambient Voice Accuracy Lies in the Details

Ambient Voice Accuracy Lies in the Details

May 2, 2025Healthcare IT Today

Terry Ciesla, Senior Vice President at ScribeEMR, explains in this video how various AI scribes can be evaluated on the basis on how well they handle complex, obscure, and subtle details.He offers an example…

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Mount Sinai launches new center aimed at AI-enabled pediatrics

Mount Sinai launches new center aimed at AI-enabled pediatrics

March 25, 2025Healthcare IT news

The Mount Sinai Health System on Monday announced its new Center for Artificial Intelligence in Children’s Health, which will explore new ways to develop, test and embed AI directly into pediatric healthcare to enable…

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Enhancing diagnostic capability with multi-agents conversational large language models

Enhancing diagnostic capability with multi-agents conversational large language models

March 13, 2025npj Digital Medicine

Large Language Models (LLMs) show promise in healthcare tasks but face challenges in complex medical scenarios. We developed a Multi-Agent Conversation (MAC) framework for disease diagnosis, inspired by clinical Multi-Disciplinary Team discussions. Using 302…

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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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Orsini, PicnicHealth Partner to Improve Rare Disease Patient Care

Orsini, PicnicHealth Partner to Improve Rare Disease Patient Care

January 13, 2025January 14, 2025HIT Consultant

What You Should Know:

– Orsini, a leader in rare disease pharmacy solutions, announced today a new partnership with PicnicHealth, a health technology company dedicated to simplifying observational research. 

– This collaboration enables rapid development of drug-specific registries…

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StoryCatch Partners Acquires EmpiraMed

StoryCatch Partners Acquires EmpiraMed

November 21, 2024November 22, 2024HIT Consultant

What You Should Know:

– StoryCatch Partners, a Public Benefit Corporation leveraging the power of individual stories to improve mental and physical wellbeing, today announced that it has acquired Maynard, Mass.-based EmpiraMed Inc., a digital health…

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GeneDx Launches AI Tool to Fuel Rare Disease Drug Discovery

GeneDx Launches AI Tool to Fuel Rare Disease Drug Discovery

November 20, 2024November 20, 2024HIT Consultant

What You Should Know: 

– GeneDx, a leader in genomic insights, has announced the launch of GeneDx Discover, a groundbreaking data visualization tool designed to revolutionize drug discovery and development. 

– The platform provides biopharmaceutical companies…

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Ex-Invitae Spinoff Relaunches as Citizen Health, Picks Up $14.5 in Seed Funding - MedCity News

Ex-Invitae Spinoff Relaunches as Citizen Health, Picks Up $14.5 in Seed Funding – MedCity News

November 20, 2024November 20, 2024MedCity News

A Silicon Valley-based startup formerly known as Ciitizen relaunched as Citizen Health on Tuesday — as well as announced a $14.5 million seed funding round led by Transformation Capital and a new partnership with…

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