Following Nobel Prize-winning chemist David Baker’s recipe for cooking an antidote to cobra venom using artificial intelligence (AI) could be faster and more effective than currently available methods. The ingredients and steps can be found in a new study published by the University of Washington (UW) scientist in collaboration with the Technical University of Denmark. They are ready for the next steps in preclinical trials.

Some rare skin diseases not only reduce the quality of life of patients, but also can be devastating conditions, leading to amputations or death. At the 31st annual congress of the European Society of Gene and Cell Therapy (ESGCT), held last week in Rome, different laboratories showcased their approaches to editing mutations related to this group of diseases.

By adapting computational methods for dealing with large volumes of data, and slimming down that data, researchers at the Icahn School of Medicine at Mount Sinai have discovered previously unknown genetic associations with 19 rare diseases, and validated three of those associations.

Brightinsight Inc. and UCB SA struck a deal to jointly develop a digital disease management solution for patients with rare diseases. The companies will start with a mobile app for myasthenia gravis (MG) built on Brightinsight’s platform. UCB joins CSL Behring, Novo Nordisk A/S, Sanofi SA and Roche AG in partnering with Brightinsight on digital disease management.

LONDON – The industry is expressing divergent views of changes to how the U.K. health technology assessment agency, the National Institute for Health and Care Excellence (NICE), will in the future select what products to assess and the methods and processes it will use to carry out its evaluations.

LONDON – A pilot study has shown that whole genome sequencing can pinpoint the genetic causes of rare diseases, even in people who had previously not been given a diagnosis after undergoing sequencing of their protein coding exome.

Centogene NV and Twist Bioscience Corp. are linking up to develop custom assay kits for rare disease testing. The companies said the collaboration aims to make genetic tests more accessible to rare disease patients. Financial details were not disclosed. Centogene, which dubs itself the “rare disease company” is positioning to be a frontrunner in the testing market. The global rare disease genetic testing market size was valued at $812.3 million in 2019 and is projected to register a CAGR of 10.9% from 2020 to 2027.

LONDON – Clinical genomics specialist Congenica Ltd. has raised $50 million in a series C round that will enable it to extend beyond its roots in rare disease diagnosis to personalized medicine in cancer, and health and wellness, while expanding its geographical reach.