DIAPED

PorteursThierry ROUXELAffiliation porteursINRA Bioger, Grignon

Identification of genes responsible for monogenic frms of juvenile onset insuline dependent diabetes

The aim of this project is to identify genes responsible for recessive monogenic forms of juvenileonset
insulin-dependent Diabetes (JOD), that may be manifesting as extreme clinical forms (onset <1
year or syndromic) or not (diagnosed as type 1 diabetes, T1D). We will use whole exome sequencing
and complementary whole genome sequencing/region sequencing in 175 highly selected patients
enriched in monogenic diabetes, based on our prior analyses: 1) extreme clinical presentation AND
consanguinity, OR 2) extreme family structure in selected populations (Lebanon, Iran, Palestine). The
genetic impact of these genes will then be studied in an extended collection of diabetic patients and
families.