Text

Stem Cells in Modeling Human Genetic Diseases

---

The cloning of the sheep Dolly in 1996, demonstrating for the fi rst time that it was
possible to reprogram a differentiated mammalian cell to a pluripotent state, opened
a new and very promising fi eld of research in regenerative medicine. Although the
technology of nuclear transfer from a somatic cell to an enucleated egg was banned
for human reproductive cloning, it looked very promising for therapeutic cloning
and research purposes. However, in practice, it was shown that this technology was
extremely challenging and the results were very disappointing and frustrating. The
groundbreaking discovery of induced pluripotent stem cells (iPSCs) in mice by Dr.
Yamanaka’s group in 2006 came as a surprising alternative to therapeutic cloning
approach for reprogramming differentiated cells to an embryonic stem cell (ESC)-
like state. The report of the fi rst human iPSCs just a year later was received with
high enthusiasm by the scientifi c community, since most technical and ethical
issues involving access to human ESCs could then be circumvented, promoting
therapeutic applications. Since then, iPSC research became a fast-growing fi eld
that quickly dominated most of the scientifi c publication in stem cell biology.
Interestingly, progress in iPSC research has been pushed by scientists interested in
the mechanisms of pluripotency (re)programming, maintenance of the pluripotent
state, differentiation to defi ned cell types, and consequences of genetic/epigenetic
abnormalities to cell ontogeny and function. While applications of iPSCs in cell
therapy are envisioned but still in a premature stage of development, the use of
iPSCs as tools to study human genetic diseases boomed in the last few years. With
the contribution of experts in the fi eld, this book provides to readers a glimpse of
this effervescent scenario, emphasizing the concept of “patients in a petri dish”
model. Chapters 1 and 2 provide excellent examples of how iPSCs have been used
to model inherited disorders affecting brain and heart function, as well as advantages and limitations compared to other experimental models. Chapters 3 and 4
present the perspectives that iPSCs bring to better understand and treat severe
forms of neurodegenerative disorders for which there are no effective therapy available. Applications of iPSC technologies to address common diseases that are
vi
leading cause of mortality and morbidity worldwide are covered in Chaps. 5 and 6.
Finally, Chaps. 7 and 8 discuss how stem cells in general, not only iPSCs, have
been instrumental in the study of common neurodevelopmental disorders as well as
complex multifactorial diseases such as cancer. Readers will fi nd in the forthcoming text enlightening issues of this rapidly developing fi eld of research within the
broader context of regenerative medicine.

---

Availability

No copy data

Detail Information

Series Title

-

Call Number

-

Publisher

London : Springer., 2016

Collation

-

Language

English

ISBN/ISSN

978-3-319-18314-5

Classification

NONE

Content Type

text

Media Type

computer

Carrier Type

online resource

Edition

-

Subject(s)

Cells Modeling

Specific Detail Info

-

Statement of Responsibility

Editors: Mayana Zatz, Oswaldo Keith Okamoto

Other Information

Cataloger

Jemadi

Source

https://link.springer.com/content/pdf/10.1007/978-3-319-18314-5.pdf?pdf=button

Other version/related

File Attachment

Comments

---

You must be logged in to post a comment