With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…
News
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
PTC Therapeutics has launched a program to deliver — at no cost — blood tests that can help diagnose aromatic L-amino acid decarboxylase (AADC) deficiency, the company announced. AADC deficiency, a genetic and neurometabolic disease, is caused by mutations in the gene DDC, which codes for the…
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, “…
Recent Posts
- 2025 studies in the dozens support genome-first testing in rare disease
- How we protect our mental health as rare disease parents
- Nonprofits partner to bring therapy for Wiskott-Aldrich syndrome to US
- We resolve for the new year to spend more time with family
- AI model popEVE predicts likelihood of harm from ultra-rare DNA mutations