Louise von Stechow

In the quest to understand and treat the over 6,000 rare diseases, researchers encounter a number of limitations – in the amount of available data, access to interdisciplinary expertise, and time that can be spent on research.

Could a new …

With DeepMind’s release of AlphaGenome—a deep learning model that can predict the relevance of variants in both coding and non-coding DNA—the so-called “dark genome” has taken center stage in biotech news. AlphaGenome, an “all-in-one” genome exploration model, is …

Rare diseases, which affect more than 300 million people worldwide, are often difficult to diagnose. Many patients wait five years or more for a correct diagnosis and are misdiagnosed at least once along this diagnostic odyssey. In addition to …

Drug development for rare (also referred to as orphan) diseases is notoriously challenging. Legislative initiatives, such as the 1983 US Orphan Drug Act and 1999 EU Orphan Regulation, provide regulatory and economic incentives to drug developers. Despite an increase …