Genetics, genomics and the power of stem cells to identify novel treatment options in complex diseases

Personalized Medicine
Ulrich Broeckel, Karen Maresso

Abstract

The advances in human genetics enabled through the implementation of the latest sequencing technologies have the potential to dramatically change the landscape of medicine. As we decipher the polymorphic structure of the genome, the next challenge will focus on understanding the complex functional implications in the context of health and disease. Multiple approaches will be necessary to evaluate genome variation. While computational analyses serve as a starting point and can predict functional effects in silico, further direct functional studies will be required. The development of technologies to generate induced pluripotent stem cells represents one of these approaches. With growing evidence that these cells and derived tissues resemble phenotypes observed in patients, this approach holds tremendous potential for both diagnosis and treatment. While further studies are required to better understand the underlying mechanisms and to improve the methodology for generating induced pluripotent stem cells, this technology appears to be a powerful tool for the functional evaluation of genome variation, drug screening, risk prediction and advanced diagnostics.

References

Jan 17, 2007·Genome Biology·Elaine R Mardis
Nov 22, 2007·Science·Junying YuJames A Thomson
Dec 23, 2008·Nature·Allison D EbertClive N Svendsen
May 15, 2009·Genome Medicine·John Belmont, Amy L McGuire
Oct 9, 2009·Nature·Teri A ManolioPeter M Visscher
Mar 20, 2010·Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine·Marion de Jong, Theodosia Maina
Mar 20, 2010·Methods in Molecular Biology·Pauline C Ng, Ewen F Kirkness
May 19, 2010·Nature Reviews. Genetics·Elizabeth T Cirulli, David B Goldstein
Jun 15, 2010·Current Opinion in Pharmacology·Alexandra Wendler, Martin Wehling
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
Feb 5, 2011·Nature·Ryan E MillsUNKNOWN 1000 Genomes Project
May 11, 2011·BMC Bioinformatics·Xin FengLincoln Stein
Jun 24, 2011·Journal of Applied Genetics·Chandra Shekhar PareekAndrzej Tretyn
Aug 10, 2011·Proceedings of the National Academy of Sciences of the United States of America·Budd A TuckerEdwin M Stone
Jan 10, 2012·Proceedings of the National Academy of Sciences of the United States of America·Or ZukEric S Lander
Jan 18, 2012·Annual Review of Medicine·Claudia Gonzaga-JaureguiRichard A Gibbs
Jan 27, 2012·Nature·Mason A IsraelLawrence S B Goldstein
Feb 22, 2012·Science·Daniel G MacArthurChris Tyler-Smith
Mar 13, 2012·Methods in Molecular Biology·Heewook Lee, Haixu Tang

❮ Previous
Next ❯

Citations

Sep 17, 2013·Proteomics. Clinical Applications·Ulrich Stelzl
Dec 27, 2016·Genetic Epidemiology·Francesco GadaletaKristel Van Steen

❮ Previous
Next ❯

Methods Mentioned

BETA
Illumina sequencing
exome-sequencing
exome sequencing

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.