News

NORD Rare Disease Summit on Tap for Oct. 17-18 in DC

The NORD Rare Diseases & Orphan Products Breakthrough Summit, set for Oct. 17–18, will feature a range of speakers and discussions about issues affecting the more than 300 million people worldwide thought to have a rare disease — including those with aromatic l-amino acid decarboxylase (AADC) deficiency. The…

NORD Cheers New US ‘Inflation Reduction Act’ for Healthcare

The Inflation Reduction Act of 2022 (HR 5376) will help individuals with rare diseases — such as aromatic l-amino acid decarboxylase (AADC) deficiency — to continue to receive safe and effective care, the National Organization for Rare Disorders (NORD) said in a statement lauding the new U.S. healthcare legislation.

Registration Now Open for 2022 RARE Patient Advocacy Summit

The goal of this year’s Global Genes RARE Patient Advocacy Summit, slated for Sept. 12–14, is to connect rare disease patients, advocates, caregivers, researchers, healthcare professionals, and industry stakeholders — including those involved with aromatic l-amino acid decarboxylase (AADC) deficiency. “For people living with any of the 10,000+ rare…

Scientists Test New Method That Can Help Diagnose AADC Deficiency

Scientists have discovered a new technique to measure the activity of the aromatic-L-amino acid decarboxylase (AADC) enzyme to help diagnose AADC deficiency. The assay, which uses liquid chromatography-tandem mass spectrometry, was detailed in a study, “Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of…

New Treatments Needed to Improve Quality of Life in AADC

Aromatic l-amino acid decarboxylase (AADC) deficiency has a significant negative effect on patients, their families, and the healthcare system, according to a new review paper that called it “a debilitating disease that significantly impacts quality of life for individuals and caregivers.” The review found that people with AADC deficiency…