Question: As head of the Molecular Stem Cells Biology laboratory at the Leiden University Medical Center what main research projects are you working on?
Answer: Essentially all our research centres around the development of lymphocytes, a type of white blood cells, from stem cells. We try to find answers to specific questions such as: how do you get from a stem cell to a fully functional working T cell or B cell?, why does the daughter cells go into one direction and not another, for example, instead of to lymphocytes towards monocytes or red cells?, and so on.
Besides basic aspects of how a cell orchestrates gene activity and communicates with other cells in both mice and humans, this knowledge is applied to diagnosis and gene therapy of primary human immunodeficiencies. Our research will lead to novel diagnostic and therapeutic tools and bring gene therapy to a number of immune disorders and into the reality of the clinics.
Q: What is Recomb about and what does it hope to achieve?
A: RECOMB is an EU sponsored H2020 project that involves 11 counties with the aim to deliver gene therapy for one particular type of SCID disease. The ultimate aim of RECOMB is to create a novel treatment for one of the most common types of SCID, RAG1-SCID, by performing phase 1 and phase 2 clinical trials using autologous haematopoietic stem cell‒based gene therapy.
SCID comprises a group of rare diseases in which cells in the adaptive immune system fail to develop properly. The specific SCID phenotype depends on the underlying genetic defect, and more than 20 SCID-associated genes have been identified to date. SCID affects ~1:35,000 infants, with approximately 145 affected babies born each year in the EU.
These infants are born without a functional immune system, thus typically experience a wide range of serious eventually even life-threatening infections, including pneumonia, meningitis, and sepsis, and die within the first year of life unless effective treatment is given.