UCL GOS Institute of Child Health

MRC CNMD Biobank London

Updated March 2024

The MRC Centre for Neuromuscular Diseases (MRC CNMD) Biobank London is based at the UCL Institute of Neurology and the UCL Great Ormond Street Institute of Child Health. The Biobank takes full advantage of the largest UK patient populations with neuromuscular diseases cared for at the co-located hospitals: Great Ormond Street NHS Trust and the National Hospital for Neurology and Neurosurgery, UCLH Foundation Trust.

The Biobank comprises of samples from patients with confirmed or suspected neuromuscular disorders and a limited number of controls. The samples are vital to allow researchers to better understand diseases and develop new diagnostic tests and drugs. The Biobank stores myoblasts, fibroblasts, plasma, serum, urine, DNA, muscle tissue and other miscellaneous samples. These samples have been collected from patients or healthy volunteers who have given appropriate consent for research and from existing pathology archives.

Samples are accessible for researchers based in the UK and internationally. Applicants should be employees of a recognised academic institution, hospital or commercial research organization and must hold their own ethical approval to access samples from the Biobank.

Researchers who wish to prospectively collect and bank a large volume of samples as part of their project should discuss this in advance with the biobank coordinator since additional resources are required to process and bank large volume requests, which must be costed for upfront in the grant application.

Additional information can be found on the MRC CNMD Biobank London website. 

The Biobank Coordinator is Dr Silvia Torelli, email: s.torelli@ucl.ac.uk

The Cardiac Archive

Updated March 2024

The Cardiac Archive is based at the Zayed Centre for Research and is held under a satellite of the main ICH HTA research licence.

The aim of the Cardiac Archive is to be a resource and repository for the study of the structural architecture of the human heart & lung, how this changes during development, in congenital malformations and in acquired disease.

The Archive is actively open and consists of existing holdings of heart and lung specimens (pre-HTA Act - Sept 2006) together with newly donated samples (Sept 2006 onwards)

Access to the archive, for observational study and training, is via the PD and is restricted to health professionals and students on designated courses, or else those conducting approved observational research studies. Other research studies can be requested for consideration by the Cardiac Archive research committee and for subsequent ethical approval by contacting the PD.

The Cardiac Archive is governed by the ICH HTA committee which reports to the UCL Human Tissue Authority Licence Designated Individual and Persons Designated Group.

The Archive is managed by UCL Institute of Cardiovascular Science with observational research studies assessed by the Cardiac Academic Group of ICS Children’s Cardiovascular Research Department / GOSH

PD: Andrew Cook: a.cook@ucl.ac.uk

The Baby Biobank

Updated Febuary 2024

The Baby Biobank is based at the St Marys Hospital and the UCL Great Ormond Street Institute of Child Health. The remit of the Baby Biobank is to facilitate research into pregnancy complications, in particular Recurrent miscarriage, fetal growth retardation, prematurity and pre-eclampsia. The Biobank resources are available to commercial and non commercial research organisations internationally.

The Biobank comprises of over 54,000 archived biological samples and associated clinical data collected from 2515 pregnancies. Biological samples include, blood, serum, and plasma from both parents, urine from the mother and placental and umbilical cord tissues and blood from the proband. The biobank also holds DNA from the parenta and proband and placental RNA. Sample sets are accompanied by clinical and demographic data.

The Baby Biobank Research Management Board reviews requests for the use of samples and data. Approved studies must have local Research and Development approval and provide evidence of peer reviewed funding. Data generated from the samples is fed back into the biobank database. The Baby Biobank was set up from funding from Wellbeing of Women and is now solely supported by income generated by the supply of samples for research.

View information about the Baby biobank and an application form to access the resource.

PD: Nita Solanky: nita.solanky@ucl.ac.uk

The Human Developmental Biology Resource (HDBR)

Updated March 2024

The Human Developmental Biology Resource (HDBR) (www.hdbr.org) is a human embryonic and fetal biobank with Research Tissue Bank Ethics approval to collect, store and distribute products of conception in the period: 4-22 weeks post-fertilisation. HDBR has operated as a partnership between Newcastle University and UCL since 1999, with joint funding from MRC and Wellcome.

Fresh or archived tissues, slides and RNA/DNA/ single cell dissociation preps are available to the international scientific community. Material can either be sent to registered users or our In House Gene Expression Service (IHGES) can carry out projects on users’ behalf, providing high quality images and interpretation of gene expression patterns. Data generated both by HDBR users and produced in house at London and Newcastle HDBR centres are disseminated through the HDBR Atlas Human Developmental Biology Resourse (HDBR) Atlas. 

View information about the HDBR and an application form to access the resource.

PD: Nita Solanky: nita.solanky@ucl.ac.uk

The Living Airway Biobank

Updated March 2024

Respiratory infections and diseases are responsible for 1 in 4 deaths in the UK. Improving the care and treatment of these patients requires more research, but studying the early development of disease and identifying new drugs requires access to good quality human airway material.

Our Living Airway acts as a depository for respiratory tissue, blood and secretions from adult and paediatric healthy volunteers and patients with a range of respiratory conditions, including cystic fibrosis, COPD, asthma, rare lung diseases and viral infections.

It is run by UCL, but we have established procedures and local approval to collect material from eight UK hospitals. The samples we collect are then distributed to researchers, internal or external to UCL, with samples relevant to the type of research they are conducting. This could include biomedical fields ranging from airway tissue regeneration, inflammation, viral and bacterial infection, and gene therapy, for example.

In our first three years of operation, we have collected almost 200 different samples from donors (each obtained with the patient or family’s informed consent to donate). Samples are either specifically collected for the Biobank or comprise of tissue or secretions surplus to other requirements (again, once consent is obtained). Available samples include flash-frozen lung or nasal biopsies, frozen airway secretions or lavage, and living cells cultured from airway biopsies. The latter cultured cells provide an excellent pre-clinical model for evaluating airway disease and testing novel therapeutics. The team at UCL ICH has more than 10 years of experience using this model and regularly interacts with academic and industrial partners across scientific disciplines to accelerate the translation of laboratory research to improve patient care.

A Biobank Access Committee assesses the scientific remit of Biobank sample access applications and ensures that the Biobank is managed in an ethical, fair, and accountable manner. The Biobank was established by Dr Claire Smith, Associate Professor in Respiratory Child Health, and Prof Chris O’Callaghan, UCL Great Ormond Street Institute of Child Health.

For further details please contact Dr Claire Smith (c.m.smith@ucl.ac.uk) or Prof Chris O’Callaghan (c.ocallaghan@ucl.ac.uk).

Rare Cardiovascular Diseases Research Tissue Bank 

Updated: March 2024

The Rare Cardiovascular Diseases Research Tissue Bank is a repository of blood, urine and tissue samples collected from patients under the care of the Inherited Cardiovascular Disease, Heart Failure and Pulmonary Hypertension services at Great Ormond Street Hospital. This biobank currently contains over 7000 samples from over 1,400 individual patients. The Biobank is managed by the UCL Institute of Cardiovascular Science.

For the purposes of this biobank, rare cardiovascular diseases include inherited and acquired cardiomyopathies, inherited arrhythmia syndromes, aortopathy syndromes and pulmonary hypertension. Biobank samples are collected from: patients diagnosed with a rare cardiovascular disease, patients carrying genetic variants which increase their risk of developing a rare cardiovascular disease, or patients undergoing cardiac screening due to a family history of one of these conditions.

The aim of this Biobank is to facilitate research into rare cardiovascular disease in children. The Rare Cardiovascular Diseases Biobank Management Committee ensures appropriate and fair use of samples through review of proposals from prospective users of Biobank samples. Prospective researchers can make a formal application to the Biobank Committee and must provide written evidence of an ethically approved project prior to accessing any Biobank resources.

Long term storage of these samples is at the Zayed Centre for Research into Rare Disease in Children (HTA License No: 12220), governed by the ICH HTA committee which reports to the UCL Human Tissue Authority Licence Designated Individual and Persons Designated Group.

PD: Dr Juan Pablo Kaski (j.kaski@ucl.ac.uk)

The CHOIR Biobank

Updated March 2024

Childhood ocular inflammatory disorders such as uveitis, scleritis and orbital inflammation are an important cause of childhood and later life visual loss.

CHOIR, or the Childhood Ocular Inflammatory Disease Research Tissue Biobank, has (since mid 2023) been established in order to collect and store biological tissue samples linked to clinical longitudinal data for research purposes. Specifically, within CHOIR sit linked stores of blood, uveal tissue, tears, aqueous humour, and faeces and saliva samples from individuals diagnosed with childhood onset ocular inflammatory disease, for use by researchers throughout the UK. Samples include those obtained from individuals undergoing routine surgery. Patients are recruited from hospitals in the UK: whilst recruitment is currently only active at Great Ormond Street Children’s Hospital, future sites include Moorfields Eye Hospital.

Additionally, in future CHOIR will also collect samples from patients who have a disorder that is associated with an increased risk of developing uveitis (such as juvenile idiopathic arthritis), patients who have an unrelated eye disease, or people related to young people or children with inflammatory eye disease. Samples are linked to clinical phenotype (including clinical outcomes and imaging data) and form a unique research resource for studies into the mechanisms responsible for ocular inflammatory disease and for the development of novel treatment strategies.

CHOIR Biobank Protocol

PD: Ameenat Lola Solebo (a.solebo@ucl.ac.uk) and Lizzy Rosser (e.rosser@ucl.ac.uk)