GOSH-UCL CLA Research Update 2024

Our dedicated UCL-GOS CLA Research team is based at the UCL GOS Institute of Child Health led by Dr Maanasa Polubothu. We work with top scientists the fields of developmental, vascular and oncogene biology and with national clinical experts in CLA at Great Ormond Street Hospital to both develop new treatments and to improve the clinical care and outcomes for children and adolescents with CLA.

 The main aims of our current work are to:

  • Ensure all patients with CLA in the UK are able to receive a genetic diagnosis
  • Working with the NHS to ensure all CLA genes are available on diagnostic panels
  • Working in the lab to develop liquid biopsy protocols to enable a genetic diagnosis from blood or lymphatic fluid thus avoid the need for a tissue biopsy leading to a quicker and safer route to genetic diagnosis
  • Working in the lab to find new causative genes for CLA for the patients who don’t have any of the known CLA gene changes
  • Improve availability of targeted medical therapies for patients with CLA
  • Working with drug companies and NHS funders to secure access to repurposed cancer therapies such as Trametinib
  • Improve access to expert multi-disciplinary care for all patients with CLA
  • Establishing an NHS England Rare Disease Collaborative Network for Mosaic Disorders with expert paediatric and adult clinics available to any patient in the UK
  • Understand more about the underlying pathobiology of CLA and develop new targeted treatments
  • Working with vascular biologists and genetic experts to understand why gene changes in CLA lead to disrupted lymphangiogenesis and exploring how we can develop drugs to reverse these changes
  • Develop organoid models of CLA
  • Working with leading vascular biologists to develop biomimetic organoid models of CLA to help us understand more about the evolution of CLA over time and to test new drugs

Roli Adollo, UK -LGDA funded Research Associate update

Roli completed a highly successful year as an CLA research associate. Her work in this time focused on 3D imaging of CLA tissue, generating organoid models of CLA for drug screening and developing a liquid biopsy protocol for genetic diagnosis in CLA. Roli presented her work on CLA at the International Conference on Vascular Anomalies in Brussels in 2023 and was awarded a poster prize!  This paper is currently in preparation for publication.

Hei-Yin Law, UCL MRes student completes his CLA MSc studying disrupted lymphatic vessel formation in CLA

Hei-Yin Law, a UCL MRes student on the Biosciences programme, was successfully awarded his MRes this year receiving first class honours! Hei-Yin joined our lab to complete his project and thesis titled “Exploring disrupted lymphangiogenesis in CLA”.  During this work Hei-Yin generated important gene edited cell lines containing the genetic changes seen in CLA.  These cells will be used by our group going forward to make 3D models and test new drugs.

Future directions

Catalysed by UK-LGDA funding our lab group has been able to flourish this past year.  We have forged key collaborations with lymphatic experts and vascular biologists to help propel forward our research. As a follow on from the pivotal pilot funding from UK-LGDA we have secured three further research grants from UCL therapeutic innovation network, UCL GOS Institute of child health research development fund and NIHR UCL GOS Biomedical Research Centre to continue our important work in CLA.