Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

EPS and iPS Cells in Disease Research

EPS and iPS Cells in Disease Research

Embryonic and induced pluripotent stem cells are excellent models for disease research because of their ability to self-renew and differentiate into most cell types. Somatic cells from a patient are isolated and reprogrammed into induced pluripotent stem cells or iPSCs. These iPSCs are later differentiated into the desired cell type, which mirrors the diseased cell of the patient. In this way, disease models have been created for investigating diseases such as Down syndrome, type I diabetes,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer.

Cancer research·2013

Same author

Astragaloside II triggers T cell activation through regulation of CD45 protein tyrosine phosphatase activity.

Acta pharmacologica Sinica·2013

Same author

Digital design and individually fabricated titanium implants for the reconstruction of traumatic zygomatico-orbital defects.

The Journal of craniofacial surgery·2013

Same author

Screening for and surveillance of high-risk patients with HBV-related chronic liver disease: promoting the early detection of hepatocellular carcinoma in China.

Bioscience trends·2013

Same author

Synthesis and hepatitis C antiviral activity of 1-aminobenzyl-1H-indazole-3-carboxamide analogues.

ChemMedChem·2013

Same author

Thyroid function and morphology in overweight and obese children and adolescents in a Chinese population.

Journal of pediatric endocrinology & metabolism : JPEM·2013

Same journal

Erratum: Corrigendum.

Intractable & rare diseases research·2026

Same journal

The skin as a sentinel organ for neurodegeneration: An underrecognized target for dementia prevention.

Intractable & rare diseases research·2026

Same journal

Beyond malignancies: Clinical advancements of CAR T-cell in the treatment of autoimmune diseases.

Intractable & rare diseases research·2026

Same journal

Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study.

Intractable & rare diseases research·2026

Same journal

Policy lessons regarding medical security for rare diseases inChina: Insights from Zhejiang Province through the multiplestreams framework.

Intractable & rare diseases research·2026

Same journal

From presence to provenance: Building substantive infrastructure for China's rare disease ecosystem.

Intractable & rare diseases research·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Dec 21, 2025

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

Published on: May 11, 2021

Modeling the rare diseases process in dish.

¹National Center for Global Health and Medicine, Tokyo, Japan.

Intractable & Rare Diseases Research

|June 5, 2018

Summary

This summary is machine-generated.

Induced pluripotent stem cells (iPSCs) offer a powerful way to model rare diseases like phenylketonuria and trisomy 18 in vitro. These new iPSC models show promise for understanding disease mechanisms and finding therapeutic targets.

Keywords:

Rare diseases cell model induced pluripotent stem cells phenylketonuria trisomy 18

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Dec 21, 2025

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

In Vitro Three-Dimensional Sprouting Assay of Angiogenesis Using Mouse Embryonic Stem Cells for Vascular Disease Modeling and Drug Testing

Published on: May 11, 2021

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

Biomedical Research
Stem Cell Biology
Rare Disease Modeling

Background:

Understanding rare disease pathology requires accurate in vitro models.
Induced pluripotent stem cells (iPSCs) enable the generation of patient-specific cells for disease research.

Discussion:

Established iPSC models for phenylketonuria and trisomy 18.
These models facilitate the study of disease mechanisms and identification of therapeutic targets.
Highlights the potential of iPSC technology in rare disease research.

Key Insights:

Successful creation of iPSC models for phenylketonuria and trisomy 18.
Demonstrated utility of iPSCs for mimicking rare disease progression.
Provides a platform for drug discovery and personalized medicine in rare genetic disorders.

Outlook:

Future research can leverage these iPSC models to explore novel therapeutic strategies.
Expansion of iPSC modeling to other rare genetic conditions.
Potential for advancing the understanding and treatment of intractable and rare diseases.