Researchers have developed a new sensor to detect dopamine, which may be a useful tool for diagnosing and treating neurological diseases such as aromatic L-amino acid decarboxylase (AADC) deficiency. The sensor was described in the study, “Electrochemical Dopamine Sensing Using Mn-Doped CeO2 Nanomaterial-Modified Carbon Paste Electrode…
A new study reports that aromatic L-amino acid decarboxylase (AADC) deficiency was the most common neurotransmitter disorder seen at a clinic in India over the last decade. The study, “Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India,” was published…
People affected by rare diseases like aromatic L-amino acid decarboxylase (AADC) deficiency require more than just medical support: These patients and their caregivers need a holistic approach that also addresses several unmet needs, such as providing social and financial assistance. That’s according to a new study, “…
Doctors at Boston Children’s Hospital say the gene therapy Kebilidi (eladocagene exuparvovec-tneq) can be life-changing for people with aromatic L-amino acid decarboxylase (AADC) deficiency, as was the case for a girl treated there. When the girl went in for gene therapy treatment as a baby in 2023, she…
Ambry Genetics‘ Patient for Life program — designed to systematically reanalyze genetic data as new information becomes available — can help in the diagnosis of rare genetic diseases, a new study by company researchers reports. Indeed, using the program led to a diagnosis in more than 450 samples,…
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…
Telerare Health is now offering virtual genomic consultations to people in Minnesota, with the aim of helping those with rare genetic disorders get accurate diagnoses and start treatment, according to a company press release. The genome is a person’s complete set of DNA. Genomics, therefore,…
A new documentary aims to raise rare disease awareness by focusing on the struggles faced by families of children with rare conditions. Rare: A Rare Disease Revolution is being submitted to film festivals worldwide, and was recently screened at a rare disease day event hosted by Illumina, a company…
Researchers at Oregon State University are developing an artificial intelligence (AI) chatbot to help doctors diagnose rare disorders like aromatic l-amino acid decarboxylase (AADC) deficiency. “In the long term, I’m convinced that AI will have a profound impact on health care,” Stephen Ramsey, PhD, associate professor of…
The National Organization for Rare Disorders (NORD) will host its first rare disease scientific symposium, in hopes of advancing rare disease research. The NORD Rare Disease Scientific Symposium will be held June 2-3 in Washington. Online registration is available. The symposium “offers a rare opportunity to bring together…
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