A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

S Marwaha, JW Knowles, EA Ashley - Genome medicine, 2022 - Springer
Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

Advances in organ-on-a-chip engineering

B Zhang, A Korolj, BFL Lai, M Radisic - Nature Reviews Materials, 2018 - nature.com
Predicting the effects of drugs before human clinical trials is at the heart of drug screening
and discovery processes. The cost of drug discovery is steadily increasing owing to the …

Self-assembling human heart organoids for the modeling of cardiac development and congenital heart disease

YR Lewis-Israeli, AH Wasserman, MA Gabalski… - Nature …, 2021 - nature.com
Congenital heart defects constitute the most common human birth defect, however
understanding of how these disorders originate is limited by our ability to model the human …

Human iPSC-derived cardiomyocytes are susceptible to SARS-CoV-2 infection

A Sharma, G Garcia, Y Wang, JT Plummer… - Cell Reports …, 2020 - cell.com
Summary Coronavirus disease 2019 (COVID-19) is a pandemic caused by severe acute
respiratory syndrome coronavirus 2 (SARS-CoV-2). COVID-19 is defined by respiratory …

Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

Induced pluripotent stem cells and their use in human models of disease and development

P Karagiannis, K Takahashi, M Saito… - Physiological …, 2019 - journals.physiology.org
The discovery of somatic cell nuclear transfer proved that somatic cells can carry the same
genetic code as the zygote, and that activating parts of this code are sufficient to reprogram …

Organ-on-a-chip devices advance to market

B Zhang, M Radisic - Lab on a Chip, 2017 - pubs.rsc.org
To curb the high cost of drug development, there is an urgent need to develop more
predictive tissue models using human cells to determine drug efficacy and safety in advance …

Metabolically driven maturation of human-induced-pluripotent-stem-cell-derived cardiac microtissues on microfluidic chips

N Huebsch, B Charrez, G Neiman, B Siemons… - Nature biomedical …, 2022 - nature.com
The immature physiology of cardiomyocytes derived from human induced pluripotent stem
cells (hiPSCs) limits their utility for drug screening and disease modelling. Here we show …

Generating ring-shaped engineered heart tissues from ventricular and atrial human pluripotent stem cell-derived cardiomyocytes

I Goldfracht, S Protze, A Shiti, N Setter, A Gruber… - Nature …, 2020 - nature.com
The functions of the heart are achieved through coordination of different cardiac cell
subtypes (eg, ventricular, atrial, conduction-tissue cardiomyocytes). Human pluripotent stem …

Engineering adolescence: maturation of human pluripotent stem cell–derived cardiomyocytes

X Yang, L Pabon, CE Murry - Circulation research, 2014 - Am Heart Assoc
The discovery of human pluripotent stem cells (hPSCs), including both human embryonic
stem cells and human-induced pluripotent stem cells, has opened up novel paths for a wide …