hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0089p2-p113 | Diabetes & Insulin P2 | ESPE2018

Detection and Analysis of Glycometabolism Related Genes in Children Diabetes

Chen Lin QI , Wang Xiao Yan , Wu Hai Ying , Chen Ting , Chen Xiu Li , Sun Hui , Wang Feng Yun

Objective: To know more about the etiology and mechanism of antibody-negative diabetes, screening MODY pathogenicity genes and deepening understanding of islet autoantibody-negative diabetes, so as to individualized precision treatment.Methods: A total of 31 subjects with diabetes who had negative islet autoantibodies and C-peptide ≥0.3 ng/ml were collected. Another group was the type 1 diabetes control group, After informed consent obtained patien...