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Recent grants awarded

2014 Sophia foundation (SSOW)
The involvement of epigenetic changes in the development of Hirschsprung disease
(PI Hofstra, 1Postdoc for 2 years)

2013 Sophia foundation (SSOW)
Isolation, characterization, and genetic rescue of enteric nervous system stem cells for use as a novel therapy in Hirschsprung diseas
(PI Hofstra, 1PhD student)

2013 NIH Grant Number: 1R21NS082546-01A1
Analysis of HSCR patient exome sequence data using Zebrafish
(PI Shepherd, co-PI Hofstra)

2012 MRace (Erasmus MC)
Isolation, characterization, and genetic rescue of enteric nervous system stem cells for use as a novel therapy in Hirschsprung disease
(PI Hofstra, 1PhD student)

2010TOP subsidie ZonMw, 40-00812-98-10042

Hirschsprung disease as a model to determine the contribution of rare variants to polygenic diseases (2 PhD students, € 675,000)

Understanding complex or polygenic diseases has become a major topic in the field of human genetics. A commonly used hypothesis in this field is "common disease, common variant", which suggests that complex diseases are caused by a large set of common but weak disease-associated variants. To find these common variants, genome-wide association studies (GWAS) are being undertaken to detect the genomic loci (and the genes therein) in many common, complex diseases. However, the identified loci usually only account for a fraction of the total genetic risk. This project is based on a complementary hypothesis, namely that besides many common weak mutations, complex diseases also need several rare, and probably stronger, mutations in order to develop. To test this hypothesis, we will work on a highly heritable, complex disorder called Hirschsprung disease (HSCR).