Patricia Inácio, PhD, science writer —

Engineers and healthcare providers at the University of Illinois are joining efforts to accelerate the diagnosis of rare diseases such as aromatic l-amino acid decarboxylase (AADC) deficiency with the help of artificial intelligence (AI). The goal is to use machine learning models to learn from available electronic medical records,…

Ambry Genetics announced a new genetic test designed to speed the diagnosis of rare genetic conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. The company said the test, called ExomeReveal, combines whole exome sequencing (WES) with Ambry’s RNA analysis technology to shorten a patient’s diagnostic journey…

Genedx said changes to its whole genome sequencing (WGS) services will allow for faster diagnoses for patients with rare genetic disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The company said its rapid whole genome sequencing technology, capable of screening a person’s entire genetic makeup, now…

GeneDx is teaming up with Epic Aura to make its genetic sequencing techniques widely available for newborns in intensive care units (NICUs). The goal is to accelerate the diagnosis of rare genetic conditions, such as aromatic l-amino acid decarboxylase (AADC) deficiency, to shorten a patient’s diagnostic odyssey…

TeleRare Health has launched a video-based virtual clinic exclusively for people in the U.S. who are living with a rare disease, which may provide a new resource to individuals with conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. The goal, the Minnesota-based virtual…

PTC Therapeutics has submitted its application seeking the approval of Upstaza (eladocagene exuparvovec) — a one-time gene therapy to correct the underlying cause of aromatic L-amino acid decarboxylase (AADC) deficiency — to the U.S. Food and Drug Administration (FDA). “We are excited to bring Upstaza one step closer to children…

The patient-centered healthcare data generation company PicnicHealth has acquired AllStripes, a platform that’s focused on gathering clinical evidence of people with rare diseases like aromatic l-amino acid decarboxylase (AADC) deficiency. With the acquisition, PicnicHealth aims to its expand patient-centered strategies intended to help in the…

Measuring 3-O-methyldopa (3-OMD) levels in the dried blood spots used in newborn screening programs could help in diagnosing aromatic L-amino-acid decarboxylase (AADC) deficiency early in life, a study in Taiwan suggests. Results from 157,371 newborns showed that six of the eight babies found to have higher-than-normal 3-OMD levels carried…

People in East Asia have a higher frequency of variants in the DDC gene — the cause of aromatic l-amino acid decarboxylase (AADC) deficiency — than do those in any other ethnic groups across the world, a new study has found. Interestingly, while Koreans had the lowest carrier frequency among…

Undiagnosed and ultra-rare disease patients and their family members have joined efforts with clinicians and advocacy partners to create the Undiagnosed Diseases Network Foundation (UDNF) to help improve care for people with such rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. “By centering those left behind…