The purposes of Undiagnosed Diseases Programs (UDPs) are to provide patients with an unknown genetic condition a diagnosis and to find the correlation between genotype and phenotype; to share globally the information to facilitate the diagnosis through a matchmaking for finding possible second cases

View this resource Bookmark this resource

The purpose of NBS is to detect potentially fatal or disabling conditions in newborns as early as possible and possibly before onset of symptoms. Such detection allows the early treatment which may significantly modify the natural history of the disease and potentially prevent developmental delays, physical disabilities and eventually death.

View this resource Bookmark this resource

Chan Zuckerberg Initiative

Published by Chan Zuckerberg Initiative

Chan Zuckerberg Initiative

In addition to traditional grantmaking to support people and organizations working toward our missions in Science, Education, and within our communities, the Chan Zuckerberg Initiative makes venture investments in impact-focused companies, builds tools and products that we can scale and give away for free, and supports capacity building to achieve progress across our work.

View this resource Bookmark this resource

A decade of optimizing drug development for rare neuromuscular disorders through TACT

Published by

Advisory Committee for Therapeutics

2020 marks the tenth anniversary of the TREAT-NMD Advisory Committee for Therapeutics (TACT), a group of multidisciplinary experts that evaluates drug development programmes for rare neuromuscular diseases and identifies pitfalls. Here, we discuss the experience with TACT based on its reviews of more than 50 applications and its potential as a model for other rare disorders.

View this resource Bookmark this resource