Comment

A public–private partnership managed by the FNIH aims to address biological, manufacturing and regulatory challenges to the development of gene therapies for rare diseases.

Open science initiatives that harness human genomic and genetic data could help increase the likelihood of successfully developing new drugs for neurodegenerative diseases.

Clinical trial costs seem to be inflating excessively, without a clear increase in the value of the information gained. Here, we highlight factors that could be driving this trend and discuss potential solutions.

Current regulation of T cell receptor (TCR)-based therapeutics may require repeated testing of patients for specific HLA alleles as well as companion diagnostics development, despite the invariant nature of the HLA genotype and availability of robust clinical HLA tests. This increases the burden on patients and the organizations developing these products. We propose regulatory flexibility to facilitate the development of and access to TCR-based therapeutics.

The International Rare Diseases Research Consortium (IRDiRC) has developed a new guidebook to invigorate drug repurposing for rare diseases.

The total number of rare conditions is debated, partly because of the variety of definitions of what constitutes rare. A broader consensus view of what rare means, based on improved understanding of individual group and patient clinicopathological characteristics, will help maximize the impact of technological advances in therapeutic development programmes.

Despite major advances in cancer research, we are falling short in bringing innovative medicines to children with cancer. We propose a new business model to incentivize investors, private companies and public organizations to invest in drug development for paediatric cancers.

Innovative approaches to conducting proof-of-concept trials could accelerate the evaluation of repurposed drugs. Drawing lessons from repurposing efforts for COVID-19 therapies, here we present a vision for a drug repurposing platform that could maximize efficiency and improve patient outcomes for many different conditions.

Thirteen pharmaceutical companies have shared and integrated preclinical and clinical data for creating computational resources that enhance translational drug safety assessment.

The low number of clinical trials in Africa and biomedical datasets that disproportionately represent populations of European ancestry contribute to the suboptimal efficacy and safety of some medicines in African populations. To address these disparities, we propose greater incorporation of African data into drug discovery and development, as well as the development of African-centric preclinical and clinical models and tools.

The last decade has seen major progress in the molecular diagnosis of rare inherited diseases, underpinning gene-targeted therapies that are now in the clinic. However, new treatment development is slow and very expensive. Here, we highlight the opportunities for mitochondrial disorders, the challenges and some of the potential solutions.

Patients and the wider public are beneficiaries of scientific research that leads to new drugs and medical technologies, but they can and should be able to contribute to these advances through participation in clinical studies, co-design of research and input into regulatory processes.

Improved understanding of regulatory requirements by academic researchers can accelerate the translation of new medical interventions to the clinic. Here, we highlight the recommendations of the ‘Strengthening Training of Academia in Regulatory Science’ (STARS) project to improve the interaction and knowledge exchange between academics and regulators, and thereby advance academic drug development.

Error-corrected next-generation sequencing (ecNGS) is an emerging technology with the potential to revolutionize the field of genetic toxicology. Here, we present recommendations from an expert working group convened to discuss potential applications, advantages and challenges associated with implementing ecNGS in nonclinical safety studies.

Artificial intelligence tools are increasingly being applied in the development and use of medicines. Here, we provide a regulatory perspective on such applications.

The COVID-19 vaccine effort was the most rapid global response to a health crisis in history. The challenge of managing unparalleled volumes of safety information provided unique opportunities to evaluate the robustness of current pharmaceutical industry pharmacovigilance practices and test novel approaches to strengthen safety signal detection, evaluation and communication.

The Assay Guidance Manual programme, a translational science education and training initiative at the US National Center for Advancing Translational Sciences (NCATS), aims to help bridge the gap between research discoveries and the delivery of new therapies by creating and disseminating experimental protocols and standards for rigour in preclinical translational research.

The Accelerating Medicines Partnership in Heart Failure is designed to deliver tools and knowledge that enable the development of new approaches to treat heart failure with preserved ejection fraction, which is considered the largest unmet need in cardiovascular medicine.

A decade on from the launch of the pioneering autism biomarker discovery initiative EU-AIMS, here we highlight advances in biomarker discovery and validation from the follow-on AIMS-2-TRIALS programme, which aims to improve the wellbeing and outcomes of autistic people through precision healthcare approaches.

INCATE, the INCubator for Antibacterial Therapies in Europe, aims to boost the antibiotic pipeline by accelerating the translation of academic innovation into industrial R&D projects to tackle antimicrobial resistance. Founded in 2021 as a partnership of research institutions and pharma companies, INCATE provides advice, community and non-dilutive funding to start-up companies.