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Top AADC News News

We’re rethinking how we travel, thanks to our daughter’s progress

Milan, Lombardy · Milan

We’re rethinking how we travel, thanks to our daughter’s progress

As parents of a child with aromatic l-amino acid decarboxylase (AADC) deficiency, travel has always required strategic planning and careful accommodations. From the earliest days of our daughter Rylae-Ann’s diagnosis at just 8 months old, my wife, Judy, and I learned to navigate the world differently. Every trip meant finding wheelchair-accessible transportation, calling ahead to ensure we had priority boarding, and leaning into the accessibilit…Read Article

Legislation to support Pennsylvania rare disease community OK'd by...

Pennsylvania · Pennsylvania

Legislation to support Pennsylvania rare disease community OK'd by...

The Pennsylvania Senate has approved legislation to extend support for patients with rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency, by continuing the work of the Pennsylvania Rare Disease Advisory Council (PARDAC). PARDAC was established in 2017 to help Pennsylvania residents navigate life with a rare disease by advancing research, raising awareness, and advising policymakers. A bipartisan effort sponsored by Repub…Read Article

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

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…European Union Read Article

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…Mississippi · Mississippi 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 · Maryland Read 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 · Thailand Read 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 Intelligence See 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 · Mississippi Read Article

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