Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
PTC Therapeutics‘ gene therapy candidate PTC-AADC (formerly AGIL-AADC) provided clinically meaningful and sustained improvements in motor, cognitive, and language milestones in children with aromatic l-amino acid decarboxylase (AADC) deficiency up to five years following the one-time treatment, trial analyses show. A single dose of PTC-AADC delivered into…
Next month’s annual conference of the National Organization for Rare Disorders (NORD) in Washington, D.C., couldn’t come at a better time, says Marshall Summar, MD, chairman of NORD’s board of directors. “The pace of discovery in rare diseases has gone from brisk to hypersonic,” Summar told BioNews Services, publisher…
Mutations in the dopa decarboxylase (DDC) gene — the gene associated with aromatic L-amino acid decarboxylase (AADC) deficiency — are linked with an increased risk of severe malaria, according to a review study. The study, “Genome-wide association studies of severe P. falciparum malaria susceptibility: progress, pitfalls…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar conditions. A recent review paper discusses many of these, highlighting the benefits and pitfalls of those available, and giving a view toward how new diagnostic methods may be applied in the future. The paper, “…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Aromatic L-amino acid decarboxylase (AADC), the enzyme deficient in patients with AADC deficiency, also is involved in the process of viral infections, a new study suggests. The work sheds light on AADC functions outside the brain and suggests that AADC may have anti-viral effects, opening new possibilities in…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
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