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Top AADC News News

Partners updating AI platform for faster rare disease diagnosis
Artificial Intelligence · Miami

Partners updating AI platform for faster rare disease diagnosis

Researchers at the University of Miami are collaborating with artificial intelligence (AI) software company Sivotec Bioinformatics to enhance the GENA platform — a tool designed to accelerate the diagnosis of rare genetic diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. The project is led by Kaan Inal, PhD, a professor at the university’s Frost Institute for Data Science and Computing (IDSC). The team aims to modernize the cu…See the Story
Statement backing EU patient representation gains more support
European Union

Statement backing EU patient representation gains more support

More than 70 additional patient organizations have joined a joint statement from the European Organization for Rare Diseases (EURORDIS) and the European Patients’ Forum (EPF) urging European policymakers to safeguard patient representation in regulatory decisions affecting medicines. “Patient representatives are not passive participants, but expert, committed members of EMA [European Medicines Agency] committees,” Virginie Bros-Facer, CEO of EUR…Read Article
We’re grateful our daughter quickly recovered from COVID-19
Mississippi · Mississippi

We’re grateful our daughter quickly recovered from COVID-19

It was bound to happen. After six years of dodging it, our daughter, Rylae-Ann, finally caught COVID-19. For my wife, Judy, and me, this triggered a rush of emotions, including fear, worry, and, ultimately, gratitude. Rylae-Ann isn’t like most kids. At just 8 months old, she was diagnosed with aromatic l-amino acid decarboxylase (AADC) deficiency, a rare genetic disorder that severely limits the production of essential neurotransmitters. At that…Read Article

PromoterAI algorithm may aid diagnoses of rare diseases like AADC...

Illumina has launched PromoterAI, an artificial intelligence (AI) algorithm to identify genetic variants in noncoding regions of genes that may cause rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency. The technology is intended to help researchers diagnose more people with rare diseases caused by mutations in noncoding gene regions, that is, regions that don’t provide information to produce proteins, but do regulate the…Artificial Intelligence · MarylandRead Article

Finding the right words to describe what it means to be a father

I’ve always struggled to find the right words for what I’m about to describe. Maybe it’s because it feels too vulnerable, or maybe I haven’t fully unpacked the emotions. But as another school year comes to a close, with all the celebration, the final curtain calls, and the proud goals scored in overtime, I feel a tension deep in my chest. And I think it’s time I try to name it. As a school principal, I carry the weight and honor of watching hund…Thailand · ThailandRead Article

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

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

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...Artificial IntelligenceSee the Story

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

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