Soma Das

TL;DR: The experience in disclosing genetic information on Mendelian disorders discovered during the course of research in the Hutterites is described and individual genetic research results are returned to participants in a population-based research study.

TL;DR: The mainstay of treatment for metastatic colorectal cancer with 5-fluorouracil and irinotecan and FOLFIRI or oxaliplatin has become the mainstay in treatment for mCRC, and tools are needed to facilitate this transition.

TL;DR: The early‐onset classic form of panthotenate kinase‐associated neurodegeneration (PKAN) is a rare genetic disorder of brain iron deposition associated with mutations in the pantothenate kinases 2 gene and is the third neurological disease after megelencephalic leukoencephalopathy with subcortical cysts and calpainopathy with founder mutations inThe Agrawal community.

TL;DR: It is concluded that in progressive childhood dystonia, PKAN should be considered and magnetic resonance imaging performed early and a novel therapeutic approach to be considered, based on the mutation analyses of the PANK2 gene, as well as the prenatal diagnosis of this disorder.