Scientists have created a novel tool called SynthMD that can be used to generate artificial datasets for rare diseases, which could help accelerate the development of new software to advance rare disease research. A paper describing this work, titled “Synthetic datasets for open software development in rare disease…
A national research network in Canada is working to accelerate research and treatment advances for rare diseases that affect children, such as aromatic l-amino acid decarboxylase (AADC) deficiency. RareKids-CAN: Pediatric Rare Disease Clinical Trials and Treatment Network aims to help streamline and support rare disease clinical research in order…
Eurordis is welcoming a recent call for the inclusion of health priorities, including an action plan on rare disorders, in the 2024-2029 European Union (EU) strategic agenda. The call was made by 27 health ministers of the Employment, Social Policy, Health, and Consumer Affairs (EPSCO) Council, which unanimously…
GeneDx is teaming up with Epic Aura to make its genetic sequencing techniques widely available for newborns in intensive care units (NICUs). The goal is to accelerate the diagnosis of rare genetic conditions, such as aromatic l-amino acid decarboxylase (AADC) deficiency, to shorten a patient’s diagnostic odyssey…
The Department of Health-Abu Dhabi and AstraZeneca are partnering to set up a center of excellence for rare diseases in the capital city of the United Arab Emirates. The two parties have signed a memorandum of understanding that outlines how they will work together on their shared mission to…
UCB has launched Aspire4Rare, a framework to “future-proof” health policies for rare diseases like aromatic l-amino-acid decarboxylase (AADC) deficiency, with the goal being to ensure faster diagnoses, better care, and access to new treatments. Developed in collaboration with a panel of experts in rare diseases from the U.S.
People living with rare diseases frequently end up being responsible for communication between their healthcare providers, a new study from Germany highlights. The finding “supports the need for establishing structures to unburden patients and caregivers from long distance travelling and being responsible for organizing their own healthcare,” researchers wrote in…
The Energy and Commerce Health subcommittee of the U.S. House of Representatives has voted to advance proposed legislation — several bipartisan bills — to support research into rare disease, including conditions such as aromatic l-amino acid decarboxylase (AADC) deficiency. Among the bills moving forward are two that will encourage…
Genomics companies Ambry Genetics and PacBio are coming on board to help the GREGoR Consortium achieve its goal of identifying the specific genetic underpinnings of rare diseases. The aim of the collaboration is to use advanced genetic sequencing techniques to screen the entire genome, the complete set…
The U.S. Food and Drug Administration (FDA) has agreed to review an application seeking the approval of Upstaza (eladocagene exuparvovec), PTC Therapeutics’ one-time gene therapy for AADC deficiency. The FDA placed the company’s application under priority review, which shortens the review period to about six months from…
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