Biobank and Cell Modelling of Children's Rare Diseases

• Research type

  Research Tissue Bank

• IRAS ID

  342691

• Research summary

  Stemnovate Limited Biobank and Cell Modelling of Children's Rare Diseases

• REC name

  Wales REC 4

• REC reference

  24/WA/0125

• Date of REC Opinion

  4 Jun 2024

• REC opinion

  Further Information Favourable Opinion

• Data collection arrangements

  The Stemnovate AHS project aims to create a resource for studying Alpers-Huttenlocher syndrome (AHS), an autosomal recessive disease caused by a mutation in the POLG1 gene. The project will focus on mitochondrial DNA (mtDNA) replication and repair to improve our understanding of the disease, its diagnosis, and finding novel treatments. Biological samples will be collected and stored for microbiological, biochemical, and genetic analysis. The biobanking of clinically diagnosed patients and comparing standard and other mitochondrial diseases affecting children would become valuable resources for pharma partners and the broader scientific community. Comparative studies will help determine why some individuals develop AHS while others do not. The project will seek active engagement with participants, research users, and society. Stemnovate-generated data and samples will be only for ethically and scientifically approved research, with appropriate safeguards to ensure confidentiality.

• Research programme

  Stemnovate Biobank for Children is a project that aims to create a research platform focused on studying rare diseases in children, particularly mitochondrial disorders. The project's main objective is to develop a resource for studying Alpers-Huttenlocher syndrome (AHS), an autosomal recessive disease caused by a mutation in the POLG1 gene. The project will focus on mitochondrial DNA (mtDNA) replication and repair to improve our understanding of the disease and its diagnosis and to find new treatments. Biological samples will be collected and stored for microbiological, biochemical, and genetic analysis. Clinically diagnosed patient samples will be biobanked, and the data will be compared with standard mitochondrial diseases affecting children to become valuable resources for pharma partners and the broader scientific community. Comparative studies will help determine why some individuals develop AHS while others do not. The project will seek active engagement with participants, charities, research users, NHS and society. All Stemnovate-generated data and samples will be used solely for ethically and scientifically approved research, with appropriate safeguards to ensure confidentiality.

• Storage license

  12680

• RTBTitle

  Stemnovate Limited Biobank and Cell Modelling of Children's Rare Diseases

• Establishment organisation

  Stemnovate Limited

• Establishment organisation address

  270 Maia Building

  Babraham Research Campus

  Cambridge United Kingdom

  CB22 3AT