DIAPED

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.

Publications :

• Dos Santos RS. et al. dUTPase (DUT) is mutated in a novel monogenic syndrome with diabetes and bone marrow failure. Diabetes 2017, vol. 66, issue 4
• Heller S. et al. Human Pluripotent Stem Cells Go Diabetic: A Glimpse on Monogenic Variants Frontiers in Endocrinology 2021, vol. 12