Birmingham Women’s and Children’s Hospital

Birmingham Women’s and Children’s Hospital (BWCH) is a leading partner in the Paediatric Excellence Initiative (PEI), bringing together expertise in rare diseases, genomic medicine, gene and cell therapies, novel treatments and translational research. As the regional centre for paediatric, neonatal, obstetric, gynaecological and genetics services across the West Midlands, BWCH provides a strong environment for translating research discoveries into new approaches to diagnosis and treatment.

Working alongside Great Ormond Street Hospital and other PEI partners, Birmingham is developing research across several GOSH BRC themes, supported by major regional and national research infrastructure including the Central and South Genomic Medicine Service Alliance, the LifeArc Rare Diseases Trials Acceleration Centre and the NIHR Commercial Research Delivery Centre.

Research Focus: Rare Diseases, Genomic Medicine, Gene and Cell Therapies, Novel Therapies, Precision Medicine, Translational Research

Birmingham’s PEI programme connects clinical and scientific expertise across Birmingham Women’s and Children’s Hospital and the University of Birmingham with the wider GOSH BRC research network. Projects span genomic diagnostics, gene therapy, rare neurological conditions, childhood cancer and the development of innovative therapies for rare diseases.

Current areas of research include:

• Gene therapy for rare and inherited conditions
• Genomic and molecular diagnostics
• Cell-free DNA and long-read sequencing
• RNA sequencing to identify patients who may benefit from innovative therapies
• Artificial intelligence and imaging approaches for rare childhood brain tumours
• Translational research into rare neurodevelopmental disorders
• Research supporting families following a rare disease genomic diagnosis

Current programmes include:

Cell-free DNA and Oxford Nanopore sequencing: Researchers are developing cell-free DNA approaches using Oxford Nanopore Technologies, including work to improve the diagnosis and prognosis of retinoblastoma and explore new approaches to non-invasive prenatal diagnosis.

RNA sequencing for innovative therapies: A translational RNA sequencing pipeline has been developed with the Central and South Genomic Laboratory Hub to help identify patients who may be suitable for innovative therapies. Seven patients have already been recruited to the project, with a further eight being approached, alongside an approved Genomics England research project to support further patient identification.

Gene and cell therapies: Birmingham is supporting research into the effects of viral-vector gene therapy on the human liver and the delivery of advanced therapy studies, including a Phase 3 commercial gene therapy trial for adolescents with severe or moderately severe haemophilia B.

Rare childhood brain tumours: Research is using radiomics, artificial intelligence and large imaging datasets to develop tools that could improve the classification and clinical management of rare childhood brain tumours. This work has already attracted further external funding to support its continued development and translation.

The PEI is helping Birmingham develop research across institutional and geographical boundaries while creating a pathway for promising projects to attract further investment.

Impact to date includes:

• Development of new genomic approaches for diagnosing rare diseases and identifying patients who could benefit from innovative therapies
• Progress towards delivery of paediatric gene therapy studies at Birmingham
• Development of radiomic and artificial intelligence approaches for rare brain tumours
• Research findings on the effects of viral-vector gene therapy on the human liver, alongside publications and presentations at international meetings
• External research funding leveraged from organisations including Fight for Sight and advanced therapy partners
• Birmingham hosting the first PEI Board Meeting in March 2025 and the first BRC/CRF conference in Birmingham in 2025
• Funding from the Midlands & Wales Advanced Therapy Treatment Centre to develop a Trust-wide advanced therapy medicinal product study portfolio, including support for pharmacy, research nursing and study delivery roles.

Developing the next generation of child health researchers is an important part of Birmingham’s PEI activity. Birmingham has established a Junior Research Faculty, providing a network for early career clinical and non-clinical researchers and greater representation within the Trust’s research and innovation activities.

Activities include:

• A dedicated Junior Research Faculty committee with regular meetings
• Representation in Trust strategy and research meetings
• Links with early career researcher networks across Birmingham and the wider Midlands
• A dedicated space for clinical academics
• Development of grant support and networking opportunities
• Cross-site connections with the GOSH BRC Junior Faculty
• Opportunities for doctoral and fellowship development.

The GOSH BRC Research Hospital Internship programme has also provided protected research time for healthcare professionals at Birmingham to develop research proposals and progress towards pre-doctoral, doctoral and post-doctoral fellowships. Projects have included medication safety, support for families following rare disease diagnosis, and central line care in paediatric haematology and oncology.

Children, young people and families are contributing to the development of Birmingham’s PEI research.

Patient and public involvement has been embedded within individual projects, including work to co-design support for families following a rare disease genomic diagnosis. This research has begun establishing a PPIE advisory panel and is moving towards stakeholder workshops to co-design an intervention that could ultimately inform support for families with genomic conditions nationally.

Children and young people have also contributed to Birmingham’s rare brain tumour research through PPIE activity and discussion with the GOSH Young Persons’ Advisory Group, helping ensure that patient perspectives inform the development and translation of new approaches.