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Top AADC News News

Patients for Patient Safety in the Context of Rare Diseases

Patients for Patient Safety in the Context of Rare Diseases

Background: The active involvement of patients and their families in patient safety is essential in healthcare systems. Citizen Science can be useful for this purpose, especially for rare diseases, by gathering data and contributions from patients to design safer environments....See the Story
A Causal Discovery Workflow for Rare Diseases: Experts-in-the-Loop Analysis of Sparse Longitudinal Data
Artificial Intelligence

A Causal Discovery Workflow for Rare Diseases: Experts-in-the-Loop Analysis of Sparse Longitudinal Data

Causal networks provide a mechanistic understanding of clinical phenomena, allowing for personalized and explainable decision-making. Causal discovery, namely the task of constructing such models, is challenging, particularly for rare diseases, where observational data are sparse, medical knowled...See the Story
Building muscle tone in a child who has AADC deficiency

Building muscle tone in a child who has AADC deficiency

When our daughter, Rylae-Ann, was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, my wife, Judy, and I were overwhelmed and unsure where to begin. Initially, our primary concern was survival. After she received gene therapy at 8 months old, we could finally ask the next big question: How do we help her get stronger? I half-joked about feeding her burgers every day. Judy didn’t find it very funny and reminded me that turning…Read Article

Reanalysis of genetic data can aid in rare disease diagnosis: Study

A company's program to systematically reanalyze genetic data with new information was found to help in rare disease diagnosis, per a study.Mississippi · MississippiRead Article

How soft blocks became a cornerstone in our home

During a recent visit from another parent whose child has aromatic L-amino acid decarboxylase (AADC) deficiency, a small comment made my wife, Judy, and I pause. “Your house looks like a kid’s gym!” she said with a laugh. We looked around, and she was right. Soft blocks of every shape and color weren’t just in the playroom of our daughter, Rylae-Ann. They were scattered throughout the house, transformed into castles, obstacle courses, and makesh…Taiwan · TaiwanRead Article

OneMedNet expands capabilities with real-world rare disease data

OneMedNet, a provider of real-world healthcare imaging data, will expand its capabilities to enable secure collaboration for researchers investigating rare diseases and other complex medical questions. By providing de-identified, curated datasets, OneMedNet hopes to fuel innovation around rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The company’s new offerings will leverage Amazon Web Services (AWS) clean rooms, whic…United States · United StatesRead Article

Changes afoot as we reflect on our daughter’s school journey

With just two weeks left in the school year, my wife, Judy, and I find ourselves reflecting deeply on how far our daughter, Rylae-Ann, has come. It feels like just yesterday we were coaxing her through tearful goodbyes at the classroom door, navigating the daily challenge of separation anxiety and morning meltdowns. Thankfully, Judy works at the same school and was never too far away, offering us comfort and Rylae-Ann a sense of security. In the…Mississippi · MississippiRead Article

Parliament’s health committee sets ambitious agenda on rare diseases, women’s health, and cancer

100% Left coverage: 1 sources
The European Parliament's SANT Committee has revealed it will launch hearings and commission studies on mental health, antimicrobial resistance, and digital health.European Union · BrusselSee the Story

Novel research into AADC enzyme may help advance treatment

Scientists created a new cell model of AADC deficiency that has allowed them to understand exactly how two disease-causing mutations in the DDC gene affect the AADC enzyme. According to the team, the new model “is useful to study the molecular basis of the disease.” It “recapitulates some key features of AADC deficiency, … and represents an ideal system for small molecule screening regarding specific enzyme defects, paving the way for a precisio…Mississippi · MississippiRead Article

After years of practice, my daughter succeeded at riding a trike

For parents of children with rare diseases, progress is rarely linear. Each milestone is hard-earned, often built upon months or even years of trial, error, and perseverance. Our daughter, Rylae-Ann, was born with aromatic l-amino acid decarboxylase (AADC) deficiency. This rare genetic disease affects neurotransmitter production, resulting in significant challenges with movement and coordination. In the beginning, my wife, Judy, and I had a simp…Mississippi · MississippiRead Article

Read Again: How Digital Hubs Are Making Genetic Condition Information Accessible

Could digital hubs, like the one launched by Airedale NHS Foundation Trust and Bradford Teaching Hospitals NHS Foundation Trust, transform how patients access essential health keep reading The post Read Again: How Digital Hubs Are Making Genetic Condition Information Accessible first appeared on Practice Business.Health · MinnesotaSee the Story

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