… within rare disease research and drug development. This article describes the value of …
rationale for establishing rare disease patient registries and the considerations and challenges …

… Molecular genetics have characterized the cause of many rare diseases and provide … ,
or improve each disease. Rare disease research poses challenges to investigators requiring …

… Therapeutic development in the neuronal ceroid lipofuscinoses shares many challenges
with other rare diseases, such as incomplete understanding of natural history to inform trial …

… of the IRDiRC Vision follow, along with the rationale, challenges, and opportunities of each.
… community in the public and private sectors, we are under no illusions about the challenges …

… of novel therapeutics for rare “orphan” diseases has brought a … However, several ethical
challenges arise with expedited … approval and the ethical challenges expedited approval creates …

… development of drugs for rare diseases can be challenging for pharmaceutical companies
… it is tailored to the unique challenges of rare diseases. Overall, orphan drug development is …

… For a rare disease such as ALS, prevention can only practically be considered for individuals
who are at risk for disease. Until very recently, the only known such population were gene …

… in the group of rare diseases, which are defined in the EU as diseases with a frequency of …
distinct, prospectively identifiable rare sub-group with a strong rationale for separate research, …

… It can be similarly challenging to produce guidelines … diseases as well as rare diseases.
For example the strength of evidence for asthma, perhaps the most common respiratory disease …

… Even though our knowledge of these diseases has increased and therapies have been
established, many aspects of the molecular pathology of LSDs remain obscure. This Review …