Clinical applications of molecular genetic discoveries

Medulloblastoma: Clinical Challenges and Emerging Molecular Discoveries

Medulloblastoma is the most common type of malignant brain tumor in children, responsible for 25% of pediatric brain cancers. Conventional treatment methods, which include surgery, radiotherapy, and chemotherapy, have improved overall survival rates for patients with medulloblastoma to over 50%. A majority of survivors, however, suffer serious long-term side effects, including developmental, ne...

Clinical impact of recent genetic discoveries in osteoporosis

Osteoporotic fracture carries an enormous public health burden in terms of mortality and morbidity. Current approaches to identify individuals at high risk for fracture are based on assessment of bone mineral density and presence of other osteoporosis risk factors. Bone mineral density and susceptibility to osteoporotic fractures are highly heritable, and over 60 loci have been robustly associa...

Assessing clinical discoveries.

Spotlight: Catalytic applications of molecular machines

Morteza Torabi was born in 1995 in Hamedan, Iran. He received his B.Sc. in Applied Chemistry (2017) and M.Sc. in Organic Chemistry (2019) from Bu-Ali Sina University under the supervision of Professor Mohammad Ali Zolfigol. He is currently working towards his Ph.D. under the supervision of Professor Mohammad Ali Zolfigol at Bu-Ali Sina University. His research interest is the design, synthesis ...

Clinical and Molecular Genetic Analysis of Iranian Patients with Neonatal Diabetes demonstrating Mutations in KCNJ11 gene

Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...