Jessica Guzman

TL;DR: The NIH UDP incorporated use of the Human Phenotype Ontology, developed a genomic alignment strategy cognizant of parental genotypes, pursued agnostic biochemical analyses, implemented functional validation, and established virtual villages of global experts.

TL;DR: Despite the small size of the NIH UDP patient cohort, pharmacogenetic incidental findings potentially useful for guiding therapy are identified and groups conducting clinical genomic studies might consider reporting of pharmacogenetics incidental findings.

TL;DR: The authors hypothesized that similar complex problems are resolvable through process management and the distributed cognition of communities and built the NIH UDP integrated collaboration system (UDPICS) to form virtual collaborative multidisciplinary research networks or communities.

TL;DR: Progress in developing the Undiagnosed Diseases Program Integrated Collaboration System (UDPICS) is described, focusing on design rationale, challenges and issues that are likely to be common in the developed systems in the future.

TL;DR: In this article , two iPSC lines were generated from two SMA type I patients with homozygous SMN1 mutations and validated the pluripotency and the ability to differentiate into three germ layers.