A free webinar on July 18 will offer insights into the patient journey in gene therapy trials, with a particular focus on rare diseases such as AADC deficiency. The webinar, “Rare Disease Trials and Gene Therapy: Understanding the Patient Journey,” will broadcast live beginning at 10 a.m. EDT, and…
For the first time, the rare disease patient advocacy organization Global Genes will hold its RARE Health Equity Forum, RARE Advocacy Summit, and other events during a single week, from Sept. 18-21 in San Diego. The global event, called Week in RARE, will also include the…
Exome sequencing, a method to decode DNA, may be useful for screening for mutations — including ones in the DDC gene — that cause aromatic L-amino acid decarboxylase (AADC) deficiency, a study from Italy suggests. The method may help to identify such mutations in children who have symptoms of…
GenScript ProBio and Comprehensive Cell Solutions (CCS) are partnering to accelerate the development of new cell and gene therapies, with the goal of making these treatments affordable and quickly accessible to patients. Such therapies could ultimately benefit people living with rare disorders such as aromatic l-amino decarboxylase…
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…
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…
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