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Pushing the boundaries of in vitro disease modelling: single cell analysis of a “population on a dish’ to decipher monogenetic diseases

Project summary

Hereditary diseases

Changes in our genetic material (mutations) can cause diseases. Identification and characterisation of these mutations are important for diagnosis and prediction of the severity of these diseases, but also for the development of new therapies.

Currently, there are several methods in which stem cells are used to study the effects of genetic changes on the severity and course of a disease. These methods are labour-intensive, time-consuming and often require cells from patients. Especially in rare diseases, the effect of genetic changes on the course of the disease is difficult to study because of the small numbers of patients and the limited availability of cells from these patients

New technique

In this research, a fast and less labour-intensive method is developed without cells from patients, to gain insight into disease mechanisms and course of disease in the case of changes in the genetic material. Instead of a ‘patient on a scale’ approach, a ‘population on a scale’ approach is chosen.

More detailed information

Principal Investigator:

dr. Mike Broeders

Role Erasmus MC:



Orthopaedics & Sports Medicine

Project website:

Not available

Funding Agency: