Analysis of certain chemicals, known as neurotransmitters, in the cerebrospinal fluid (CSF) that bathes the brain and spinal cord does not predict clinical outcomes following gene therapy in children and adolescents with aromatic L-amino acid decarboxylase (AADC) deficiency. That’s according to a recent study that analyzed CSF and clinical…
A new mobile app aims to make it easier for people with rare diseases — including aromatic l-amino acid decarboxylase (AADC) deficiency — and their caregivers to take part in research and long-term studies. The National Organization for Rare Disorders (NORD) designed the IAMRARE mobile app to connect directly with…
The National Organization for Rare Disorders (NORD) announced that its annual Rare Diseases & Orphan Products Breakthrough Summit centered on the theme “From Voices to Breakthroughs.” The event, held October 19-21 in Washington, D.C., highlighted how lived experiences fuel significant scientific and policy advancements. The event featured a…
The N-Lorem Foundation is gearing up for its Nano-Rare Patient Colloquium 2025 — the third year of its annual event to share the latest developments related to antisense oligonucleotide (ASO) treatment for individuals with extremely rare diseases. The forum, which will take place Oct. 20-21 in Cambridge, Massachusetts,…
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,…
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…
The National Organization for Rare Disorders (NORD) has launched NORD Claim Your Care, a digital tool meant to help people living with rare diseases, including aromatic l-amino acid decarboxylase (AADC) deficiency, navigate health insurance. NORD Claim Your Care is an online resource for people with rare diseases…
At its second annual event this fall, the N-Lorem Foundation detailed the latest developments related to antisense oligonucleotide (ASO) treatment for people with extremely rare diseases — those affecting just one to 30 people worldwide. Patients and families also shared experiences from their diagnosis and treatment journeys. The…
Florida State University (FSU) has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases, which conducts research on rare diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency, that affect children. The announcement was made by state representative Adam Anderson during…
Oct. 23 will mark the fifth annual AADC Deficiency Awareness Day: an event aimed at raising awareness and promoting education about aromatic L-amino acid decarboxylase (AADC) deficiency. The AADC Family Network will host this event, which includes a Facebook live presentation slated for 11 a.m. ET. The…
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