An international team of researchers have reported 121 new cases of aromatic L-amino acid decarboxylase (AADC) deficiency and identified 26 novel disease-associated mutations in the DDC gene. Among the nearly 350 reported cases of AADC deficiency globally — including the 121 new ones — the vast majority of DDC mutations…
News
In a new collaboration, Novo Nordisk plans to explore Life Edit Therapeutics’ innovative gene-editing technology for the treatment of rare genetic diseases, such as aromatic l-amino acid decarboxylase (AADC) deficiency. The therapeutic targets have yet to be disclosed, but the partnership provides for the development of as…
Note: This story has been updated May 25, 2023, to state that data from the two children in the report were part of the data package that supported Upstaza’s approval in the European Union and the U.K. The first two aromatic l-amino acid decarboxylase (AADC) deficiency patients older than…
A new artificial intelligence (AI) tool — OpenAI’s GPT application programming interface (API) — has been integrated into FindZebra, an online search engine that aims to make it easier to find information about, and thereby diagnose, rare diseases. OpenAI’s GPT API is an innovative deep-learning tool that uses artificial…
Most rare disease experts are in favor of using DNA sequencing to screen newborns for AADC deficiency and other genetic disorders that are not covered by current screening programs, according to a survey. “Early identification of infants who are at risk for genetic disorders can be lifesaving and screening…
Children with aromatic L-amino acid decarboxylase (AADC) deficiency are continuing to experience motor function gains up to 10 years after receiving a single dose of PTC Therapeutics’ gene therapy Upstaza (eladocagene exuparvovec), new clinical trial data show. Alexis Russell, PTC’s senior medical director, discussed the findings during…
The Sanford CoRDS 13th Annual Great Plains Rare Disease Summit will focus on rare neurodevelopmental disorders such as aromatic l-amino acid decarboxylase (AADC) deficiency. The event, hosted by Sanford Research, will be held May 11-12 virtually and in person in Sioux Falls, South Dakota, and feature presentations by…
Undiagnosed and ultra-rare disease patients and their family members have joined efforts with clinicians and advocacy partners to create the Undiagnosed Diseases Network Foundation (UDNF) to help improve care for people with such rare diseases, such as aromatic L-amino acid decarboxylase (AADC) deficiency. “By centering those left behind…
Michael A. Taylor of the Minnesota Twins baseball team has opened a “home-run challenge” to support Uplifting Athletes, a nonprofit rare disease advocacy and support platform, and the rare disease community. People can support the campaign by pledging a donation for every home run he hits during the…
The National Organization for Rare Disorders (NORD) is seeking to address health disparities in the rare disease community in the U.S. with the launch of new “Latino/a/x & Hispanohablantes Community Listening Sessions” — events for patients and caregivers who are, as the name says, Latino and Spanish-speaking individuals. Listening…
Recent Posts
- Pact to develop 3D models could help speed new rare disease treatments
- The power of play: How game night became our daughter’s best therapy
- MRI-guided gene therapy targets serotonin in AADC deficiency
- An ice park may have been a tourist trap, but it was also a therapy win
- New platform aims for personalized gene editing for rare diseases