The U.K. Medicines and Healthcare Products Regulatory Agency has laid out an approach to medical products for rare diseases, which the agency said afflict 3.5 million U.K. citizens. One of the objectives of this program is to simplify evidence requirements for these therapies with the hope of providing patients with more rapid access to much-needed therapeutic options.

An experimental gene therapy based on the prime editing technique could become an effective treatment for alternating hemiplegia of childhood, a severe and currently incurable rare disease. David Liu’s lab at the Broad Institute, the inventor of this gene edition methodology, together with scientists from The Jackson Laboratory, successfully reversed the effects of five mutations associated with this disorder in a mouse model.

An experimental gene therapy based on the prime editing technique could become an effective treatment for alternating hemiplegia of childhood, a severe and currently incurable rare disease. David Liu’s lab at the Broad Institute, the inventor of this gene edition methodology, together with scientists from The Jackson Laboratory, successfully reversed the effects of five mutations associated with this disorder in a mouse model.

The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare disorder affecting brain development for which a mouse model has finally been developed. Other times, small and large models exist, but an effective treatment remains elusive, as is the case with Krabbe disease, a fatal disease in children that could be prevented with the advances in gene therapy.

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 scientist in collaboration with the Technical University of Denmark. They are ready for the next steps in preclinical trials.

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.

Variants in several subunits of the Mediator protein complex are responsible for MEDopathies, which present variable clinical manifestations and modes of inheritance. Researchers from Université de Paris Cité have investigated the role of MED16, a subunit of the evolutionary-conserved Mediator complex, in MEDopathies.

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.

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.